UCHL5 (ubiquitin C-terminal hydrolase L5) - Rat Genome Database

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Gene: UCHL5 (ubiquitin C-terminal hydrolase L5) Homo sapiens
Analyze
Symbol: UCHL5
Name: ubiquitin C-terminal hydrolase L5
RGD ID: 1313432
HGNC Page HGNC:19678
Description: Enables cysteine-type deubiquitinase activity; endopeptidase inhibitor activity; and proteasome binding activity. Involved in several processes, including positive regulation of smoothened signaling pathway; protein deubiquitination; and regulation of primary metabolic process. Located in cytosol and nuclear lumen.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CGI-70; INO80 complex subunit R; INO80R; ubiquitin C-terminal hydrolase UCH37; ubiquitin carboxyl-terminal esterase L5; ubiquitin carboxyl-terminal hydrolase isozyme L5; ubiquitin carboxyl-terminal hydrolase L5; ubiquitin thioesterase L5; UCH-L5; UCH37
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381193,012,254 - 193,060,076 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1193,012,250 - 193,060,080 (-)EnsemblGRCh38hg38GRCh38
GRCh371192,981,384 - 193,029,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361191,251,522 - 191,295,144 (-)NCBINCBI36Build 36hg18NCBI36
Build 341189,716,556 - 189,760,178NCBI
Celera1166,094,514 - 166,138,132 (-)NCBICelera
Cytogenetic Map1q31.2NCBI
HuRef1164,217,286 - 164,265,038 (-)NCBIHuRef
CHM1_11194,403,215 - 194,450,956 (-)NCBICHM1_1
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-phenylbutyric acid  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP,ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (EXP,ISO)
butane-2,3-dione  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
genistein  (ISO)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
maneb  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paraquat  (ISO)
phlorizin  (ISO)
piroxicam  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,TAS)
cytosolic proteasome complex  (IEA,ISO)
Ino80 complex  (IDA,IEA)
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)
proteasome complex  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Chronic ethanol feeding affects proteasome-interacting proteins. Bousquet-Dubouch MP, etal., Proteomics. 2009 Jul;9(13):3609-22. doi: 10.1002/pmic.200800959.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Ubiquitin C-terminal hydrolase-L5 is required for high glucose-induced transforming growth factor-beta receptor I expression and hypertrophy in mesangial cells. Ko YM, etal., Arch Biochem Biophys. 2013 Jul 15;535(2):177-86. doi: 10.1016/j.abb.2013.03.003. Epub 2013 Mar 13.
4. Proteomic analysis of testicular ischemia-reperfusion injury in rats. Ouh IO, etal., J Vet Med Sci. 2014 Mar;76(3):313-21. Epub 2013 Nov 1.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. The INO80 family of chromatin-remodeling enzymes: regulators of histone variant dynamics. Watanabe S and Peterson CL, Cold Spring Harb Symp Quant Biol. 2010;75:35-42. doi: 10.1101/sqb.2010.75.063. Epub 2011 Apr 18.
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:10810093   PMID:10931946   PMID:11163772   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15840729   PMID:16027725   PMID:16196087   PMID:16344560  
PMID:16402389   PMID:16461635   PMID:16501559   PMID:16710414   PMID:16712791   PMID:16906146   PMID:16990800   PMID:17139257   PMID:17323924   PMID:17643375   PMID:17721549   PMID:18029348  
PMID:18162577   PMID:18922472   PMID:19013454   PMID:19193609   PMID:19490896   PMID:19615732   PMID:19836345   PMID:20467437   PMID:20471946   PMID:20634424   PMID:21282530   PMID:21287580  
PMID:21303910   PMID:21516116   PMID:21668797   PMID:21800051   PMID:21832049   PMID:21873635   PMID:21953935   PMID:21995438   PMID:22118674   PMID:22284438   PMID:22615012   PMID:22626734  
PMID:22645313   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23015706   PMID:23105109   PMID:23220010   PMID:23438482   PMID:23455924   PMID:23770237   PMID:24319254   PMID:24743594  
PMID:24752541   PMID:24811749   PMID:24981860   PMID:25016522   PMID:25123264   PMID:25147182   PMID:25194926   PMID:25260751   PMID:25416956   PMID:25666615   PMID:25702870   PMID:25702872  
PMID:25921289   PMID:26186194   PMID:26340092   PMID:26344197   PMID:26396186   PMID:26496610   PMID:26831064   PMID:26907685   PMID:26972000   PMID:27066941   PMID:27107012   PMID:27114451  
PMID:27604640   PMID:27641337   PMID:27705803   PMID:27813535   PMID:27880917   PMID:28190767   PMID:28198400   PMID:28292943   PMID:28338014   PMID:28396413   PMID:28442575   PMID:28514442  
PMID:28581483   PMID:28598414   PMID:28653876   PMID:28681694   PMID:28846114   PMID:28935764   PMID:28992318   PMID:29229926   PMID:29377617   PMID:29426014   PMID:29474458   PMID:29576527  
PMID:29871923   PMID:30217970   PMID:30686591   PMID:30726867   PMID:30804502   PMID:30884312   PMID:30948266   PMID:31073040   PMID:31515488   PMID:31586073   PMID:31703099   PMID:32292717  
PMID:32296183   PMID:32351584   PMID:32416067   PMID:32486284   PMID:32631902   PMID:32838362   PMID:32857986   PMID:32994395   PMID:33141564   PMID:33156996   PMID:33462405   PMID:33640491  
PMID:33853758   PMID:33961781   PMID:34133714   PMID:34326324   PMID:34349018   PMID:34431717   PMID:34599178   PMID:34642328   PMID:34761751   PMID:34857952   PMID:34983926   PMID:35032548  
PMID:35140242   PMID:35256667   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35451368   PMID:35489684   PMID:35530310   PMID:35831314   PMID:35906200   PMID:35987950  
PMID:36114200   PMID:36215168   PMID:36244648   PMID:36328194   PMID:36575184   PMID:36610398   PMID:36654385   PMID:37044315   PMID:37167062   PMID:37223481   PMID:37267103   PMID:37317656  
PMID:37478862   PMID:37616343   PMID:37762005   PMID:38773433   PMID:38803224  


Genomics

Comparative Map Data
UCHL5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381193,012,254 - 193,060,076 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1193,012,250 - 193,060,080 (-)EnsemblGRCh38hg38GRCh38
GRCh371192,981,384 - 193,029,206 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361191,251,522 - 191,295,144 (-)NCBINCBI36Build 36hg18NCBI36
Build 341189,716,556 - 189,760,178NCBI
Celera1166,094,514 - 166,138,132 (-)NCBICelera
Cytogenetic Map1q31.2NCBI
HuRef1164,217,286 - 164,265,038 (-)NCBIHuRef
CHM1_11194,403,215 - 194,450,956 (-)NCBICHM1_1
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBIT2T-CHM13v2.0
Uchl5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391143,652,993 - 143,683,204 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1143,653,010 - 143,683,204 (+)EnsemblGRCm39 Ensembl
GRCm381143,777,234 - 143,807,466 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1143,777,272 - 143,807,466 (+)EnsemblGRCm38mm10GRCm38
MGSCv371145,624,408 - 145,654,596 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361145,539,553 - 145,569,033 (+)NCBIMGSCv36mm8
Celera1146,352,307 - 146,382,478 (+)NCBICelera
Cytogenetic Map1FNCBI
cM Map162.54NCBI
Uchl5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81358,070,947 - 58,106,825 (+)NCBIGRCr8
mRatBN7.21355,520,722 - 55,556,503 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1355,520,729 - 55,556,502 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1358,089,283 - 58,125,040 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01359,356,425 - 59,392,187 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01356,641,812 - 56,677,555 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01360,568,102 - 60,603,812 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1360,545,635 - 60,603,811 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01365,556,665 - 65,592,649 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41357,605,912 - 57,643,050 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11357,619,991 - 57,908,156 (+)NCBI
Celera1355,608,483 - 55,644,135 (+)NCBICelera
Cytogenetic Map13q21NCBI
Uchl5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540630,432,652 - 30,468,741 (-)NCBIChiLan1.0ChiLan1.0
UCHL5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2156,732,736 - 56,780,775 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1156,396,699 - 56,444,658 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01168,471,501 - 168,519,366 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11172,764,606 - 172,812,502 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1172,764,606 - 172,811,880 (-)Ensemblpanpan1.1panPan2
UCHL5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1386,004,595 - 6,045,999 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl386,004,659 - 6,113,714 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha386,102,225 - 6,143,345 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0386,021,866 - 6,063,304 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl386,021,819 - 6,125,039 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1386,021,177 - 6,062,576 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0386,386,756 - 6,427,852 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0386,615,571 - 6,657,212 (+)NCBIUU_Cfam_GSD_1.0
Uchl5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934480,855,144 - 80,907,329 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366381,242,893 - 1,290,512 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366381,242,950 - 1,289,376 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCHL5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl10725,561 - 763,985 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.110725,688 - 761,633 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2102,258,893 - 2,274,919 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UCHL5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12536,362,340 - 36,415,550 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2536,364,027 - 36,414,762 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605537,311,867 - 37,365,433 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Uchl5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624814529,084 - 567,666 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624814529,100 - 568,387 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UCHL5
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1 copy number loss See cases [RCV000053950] Chr1:192567876..193180049 [GRCh38]
Chr1:192537006..193149179 [GRCh37]
Chr1:190803629..191415802 [NCBI36]
Chr1:1q31.2		 pathogenic
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001199261.3(UCHL5):c.317A>G (p.His106Arg) single nucleotide variant not specified [RCV004298004] Chr1:193029587 [GRCh38]
Chr1:192998717 [GRCh37]
Chr1:1q31.2		 uncertain significance
Single allele deletion Hyperparathyroidism 1 [RCV000677958] Chr1:191919194..194615758 [GRCh38]
Chr1:191888324..194584888 [GRCh37]
Chr1:1q31.2-31.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_015984.5(UCHL5):c.732+4C>T single nucleotide variant not provided [RCV000885577] Chr1:193023840 [GRCh38]
Chr1:192992970 [GRCh37]
Chr1:1q31.2		 benign
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q31.2(chr1:192731793-193391298) copy number gain not specified [RCV002053813] Chr1:192731793..193391298 [GRCh37]
Chr1:1q31.2		 uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1 copy number loss not provided [RCV002474543] Chr1:193011753..199882947 [GRCh37]
Chr1:1q31.2-32.1		 pathogenic
NM_001199261.3(UCHL5):c.844A>T (p.Ile282Phe) single nucleotide variant not specified [RCV004108301] Chr1:193021195 [GRCh38]
Chr1:192990325 [GRCh37]
Chr1:1q31.2		 uncertain significance
GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1 copy number loss not provided [RCV002472500] Chr1:189633885..199854163 [GRCh37]
Chr1:1q31.1-32.1		 likely pathogenic
NM_001199261.3(UCHL5):c.575A>G (p.Asn192Ser) single nucleotide variant not specified [RCV004139217] Chr1:193028139 [GRCh38]
Chr1:192997269 [GRCh37]
Chr1:1q31.2		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_001199261.3(UCHL5):c.442A>G (p.Met148Val) single nucleotide variant not specified [RCV004172841] Chr1:193029302 [GRCh38]
Chr1:192998432 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.635G>C (p.Ser212Thr) single nucleotide variant not specified [RCV004118424] Chr1:193023941 [GRCh38]
Chr1:192993071 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.521G>A (p.Arg174Lys) single nucleotide variant not specified [RCV004276722] Chr1:193029223 [GRCh38]
Chr1:192998353 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.569C>G (p.Ala190Gly) single nucleotide variant not specified [RCV004328662] Chr1:193028145 [GRCh38]
Chr1:192997275 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.21G>A (p.Glu7=) single nucleotide variant not provided [RCV003421312] Chr1:193059240 [GRCh38]
Chr1:193028370 [GRCh37]
Chr1:1q31.2		 likely benign
NM_001199261.3(UCHL5):c.11A>G (p.Asn4Ser) single nucleotide variant not specified [RCV004477269] Chr1:193059250 [GRCh38]
Chr1:193028380 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.706G>A (p.Ala236Thr) single nucleotide variant not specified [RCV004477270] Chr1:193023870 [GRCh38]
Chr1:192993000 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.745A>G (p.Thr249Ala) single nucleotide variant not specified [RCV004477272] Chr1:193023024 [GRCh38]
Chr1:192992154 [GRCh37]
Chr1:1q31.2		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_001199261.3(UCHL5):c.703A>G (p.Ile235Val) single nucleotide variant not specified [RCV004677958] Chr1:193023873 [GRCh38]
Chr1:192993003 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.880T>C (p.Phe294Leu) single nucleotide variant not specified [RCV004687940] Chr1:193021159 [GRCh38]
Chr1:192990289 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.499A>G (p.Ser167Gly) single nucleotide variant not specified [RCV004884032] Chr1:193029245 [GRCh38]
Chr1:192998375 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.878C>T (p.Pro293Leu) single nucleotide variant not specified [RCV004884033] Chr1:193021161 [GRCh38]
Chr1:192990291 [GRCh37]
Chr1:1q31.2		 uncertain significance
NM_001199261.3(UCHL5):c.607G>A (p.Val203Ile) single nucleotide variant not specified [RCV004884031] Chr1:193028107 [GRCh38]
Chr1:192997237 [GRCh37]
Chr1:1q31.2		 uncertain significance
GRCh37/hg19 1q31.1-31.3(chr1:190020202-193975983)x1 copy number loss not provided [RCV004819329] Chr1:190020202..193975983 [GRCh37]
Chr1:1q31.1-31.3		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2979
Count of miRNA genes:933
Interacting mature miRNAs:1146
Transcripts:ENST00000367448, ENST00000367449, ENST00000367450, ENST00000367451, ENST00000367452, ENST00000367454, ENST00000367455, ENST00000416915, ENST00000417752, ENST00000420791, ENST00000421683, ENST00000443327, ENST00000449480, ENST00000483156, ENST00000530098
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597331995GWAS1428069_HS-6-hydroxywarfarin measurement QTL GWAS1428069 (human)0.000006S-6-hydroxywarfarin measurement1193035275193035276Human
597025553GWAS1121627_Hbody mass index QTL GWAS1121627 (human)8e-08body mass indexbody mass index (BMI) (CMO:0000105)1193022653193022654Human
407051018GWAS699994_Hcannabis dependence QTL GWAS699994 (human)0.000005cannabis dependence1193026083193026084Human

Markers in Region
WI-14924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371192,984,630 - 192,984,758UniSTSGRCh37
Build 361191,251,253 - 191,251,381RGDNCBI36
Celera1166,094,245 - 166,094,373RGD
Cytogenetic Map1q32UniSTS
HuRef1164,220,420 - 164,220,548UniSTS
GeneMap99-GB4 RH Map1646.97UniSTS
Whitehead-RH Map1805.9UniSTS
NCBI RH Map11592.4UniSTS
RH91900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371192,983,640 - 192,983,762UniSTSGRCh37
Build 361191,250,263 - 191,250,385RGDNCBI36
Celera1166,093,255 - 166,093,377RGD
Cytogenetic Map1q32UniSTS
HuRef1164,219,430 - 164,219,552UniSTS
GeneMap99-GB4 RH Map1646.97UniSTS
G65637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371192,982,600 - 192,983,068UniSTSGRCh37
Build 361191,249,223 - 191,249,691RGDNCBI36
Celera1166,092,215 - 166,092,683RGD
Cytogenetic Map1q32UniSTS
HuRef1164,218,390 - 164,218,858UniSTS
SHGC-76064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371192,981,521 - 192,981,718UniSTSGRCh37
GRCh371192,981,521 - 192,981,659UniSTSGRCh37
Build 361191,248,144 - 191,248,282RGDNCBI36
Celera1166,091,136 - 166,091,274RGD
Celera1166,091,136 - 166,091,333UniSTS
Cytogenetic Map1q32UniSTS
HuRef1164,217,311 - 164,217,449UniSTS
HuRef1164,217,311 - 164,217,508UniSTS
TNG Radiation Hybrid Map193335.0UniSTS
GeneMap99-GB4 RH Map1646.97UniSTS
Whitehead-RH Map1805.9UniSTS
NCBI RH Map11603.9UniSTS
UCHL5_8042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371192,984,756 - 192,985,441UniSTSGRCh37
Build 361191,251,379 - 191,252,064RGDNCBI36
Celera1166,094,371 - 166,095,056RGD
HuRef1164,220,546 - 164,221,231UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7305 6471 53 3734 1 851 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF147717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF157320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI548319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM701303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP397519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX111590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX484791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX758593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA255130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA316048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB172473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC295313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC420886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN916480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR422870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR760216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY081343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367448   ⟹   ENSP00000356418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,018,405 - 193,059,361 (-)Ensembl
Ensembl Acc Id: ENST00000367449   ⟹   ENSP00000356419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,018,405 - 193,059,409 (-)Ensembl
Ensembl Acc Id: ENST00000367450   ⟹   ENSP00000356420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,016,103 - 193,059,296 (-)Ensembl
Ensembl Acc Id: ENST00000367451   ⟹   ENSP00000356421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,016,162 - 193,059,349 (-)Ensembl
Ensembl Acc Id: ENST00000367454   ⟹   ENSP00000356424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,012,254 - 193,059,360 (-)Ensembl
Ensembl Acc Id: ENST00000367455   ⟹   ENSP00000356425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,012,250 - 193,059,496 (-)Ensembl
Ensembl Acc Id: ENST00000416915   ⟹   ENSP00000392416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,020,335 - 193,023,922 (-)Ensembl
Ensembl Acc Id: ENST00000417752   ⟹   ENSP00000412265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,051,792 - 193,060,080 (-)Ensembl
Ensembl Acc Id: ENST00000420791   ⟹   ENSP00000408720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,015,759 - 193,029,575 (-)Ensembl
Ensembl Acc Id: ENST00000421683   ⟹   ENSP00000389563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,022,968 - 193,059,521 (-)Ensembl
Ensembl Acc Id: ENST00000443327   ⟹   ENSP00000391153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,018,622 - 193,029,309 (-)Ensembl
Ensembl Acc Id: ENST00000449480   ⟹   ENSP00000402847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,015,994 - 193,023,940 (-)Ensembl
Ensembl Acc Id: ENST00000483156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1193,049,532 - 193,059,217 (-)Ensembl
RefSeq Acc Id: NM_001199261   ⟹   NP_001186190
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
GRCh371192,981,496 - 193,029,237 (-)ENTREZGENE
HuRef1164,217,286 - 164,265,038 (-)ENTREZGENE
CHM1_11194,403,215 - 194,450,242 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199262   ⟹   NP_001186191
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
GRCh371192,981,496 - 193,029,237 (-)ENTREZGENE
HuRef1164,217,286 - 164,265,038 (-)ENTREZGENE
CHM1_11194,409,254 - 194,450,242 (-)NCBI
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199263   ⟹   NP_001186192
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
GRCh371192,981,496 - 193,029,237 (-)ENTREZGENE
HuRef1164,217,286 - 164,265,038 (-)ENTREZGENE
CHM1_11194,409,254 - 194,450,242 (-)NCBI
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350840   ⟹   NP_001337769
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350841   ⟹   NP_001337770
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350842   ⟹   NP_001337771
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350843   ⟹   NP_001337772
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350844   ⟹   NP_001337773
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350845   ⟹   NP_001337774
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350846   ⟹   NP_001337775
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,510 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,718 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350847   ⟹   NP_001337776
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,510 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,718 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350848   ⟹   NP_001337777
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350849   ⟹   NP_001337778
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350850   ⟹   NP_001337779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350851   ⟹   NP_001337780
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350852   ⟹   NP_001337781
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,060,076 (-)NCBI
T2T-CHM13v2.01192,364,932 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015984   ⟹   NP_057068
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
GRCh371192,981,496 - 193,029,237 (-)ENTREZGENE
Build 361191,251,522 - 191,295,144 (-)NCBI Archive
HuRef1164,217,286 - 164,265,038 (-)ENTREZGENE
CHM1_11194,403,215 - 194,450,242 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NR_037607
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,019,887 - 193,060,076 (-)NCBI
GRCh371192,981,496 - 193,029,237 (-)ENTREZGENE
HuRef1164,217,286 - 164,265,038 (-)ENTREZGENE
CHM1_11194,410,736 - 194,450,956 (-)NCBI
T2T-CHM13v2.01192,367,095 - 192,407,284 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146930
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146931
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711367   ⟹   XP_006711430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711369   ⟹   XP_006711432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711370   ⟹   XP_006711433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711371   ⟹   XP_006711434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509604   ⟹   XP_011507906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509607   ⟹   XP_011507909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,510 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001433   ⟹   XP_016856922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001438   ⟹   XP_016856927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422310   ⟹   XP_047278266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,019,800 - 193,059,360 (-)NCBI
RefSeq Acc Id: XM_047422322   ⟹   XP_047278278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,020,307 - 193,059,360 (-)NCBI
RefSeq Acc Id: XM_047422324   ⟹   XP_047278280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,020,307 - 193,059,360 (-)NCBI
RefSeq Acc Id: XM_047422329   ⟹   XP_047278285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,060,076 (-)NCBI
RefSeq Acc Id: XM_047422333   ⟹   XP_047278289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,059,510 (-)NCBI
RefSeq Acc Id: XM_047422344   ⟹   XP_047278300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,510 (-)NCBI
RefSeq Acc Id: XM_047422353   ⟹   XP_047278309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,060,076 (-)NCBI
RefSeq Acc Id: XM_047422360   ⟹   XP_047278316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,049,817 (-)NCBI
RefSeq Acc Id: XM_047422363   ⟹   XP_047278319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,059,510 (-)NCBI
RefSeq Acc Id: XM_047422366   ⟹   XP_047278322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,049,808 (-)NCBI
RefSeq Acc Id: XM_047422371   ⟹   XP_047278327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,012,254 - 193,049,807 (-)NCBI
RefSeq Acc Id: XM_047422372   ⟹   XP_047278328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,017,724 - 193,049,812 (-)NCBI
RefSeq Acc Id: XM_054336938   ⟹   XP_054192913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336939   ⟹   XP_054192914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336940   ⟹   XP_054192915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,367,514 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336941   ⟹   XP_054192916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336942   ⟹   XP_054192917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336943   ⟹   XP_054192918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336944   ⟹   XP_054192919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336945   ⟹   XP_054192920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,367,515 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336946   ⟹   XP_054192921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,367,515 - 192,406,568 (-)NCBI
RefSeq Acc Id: XM_054336947   ⟹   XP_054192922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
RefSeq Acc Id: XM_054336948   ⟹   XP_054192923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
RefSeq Acc Id: XM_054336949   ⟹   XP_054192924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,406,718 (-)NCBI
RefSeq Acc Id: XM_054336950   ⟹   XP_054192925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,406,718 (-)NCBI
RefSeq Acc Id: XM_054336951   ⟹   XP_054192926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,718 (-)NCBI
RefSeq Acc Id: XM_054336952   ⟹   XP_054192927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,407,284 (-)NCBI
RefSeq Acc Id: XM_054336953   ⟹   XP_054192928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,397,025 (-)NCBI
RefSeq Acc Id: XM_054336954   ⟹   XP_054192929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,406,718 (-)NCBI
RefSeq Acc Id: XM_054336955   ⟹   XP_054192930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,397,016 (-)NCBI
RefSeq Acc Id: XM_054336956   ⟹   XP_054192931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,397,015 (-)NCBI
RefSeq Acc Id: XM_054336957   ⟹   XP_054192932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,364,932 - 192,397,020 (-)NCBI
RefSeq Acc Id: XM_054336958   ⟹   XP_054192933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,407,284 (-)NCBI
RefSeq Acc Id: XM_054336959   ⟹   XP_054192934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01192,359,462 - 192,406,568 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001186190 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186191 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186192 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337769 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337770 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337771 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337772 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337776 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337777 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337778 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337779 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337780 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337781 (Get FASTA)   NCBI Sequence Viewer  
  NP_057068 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711430 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711432 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711433 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711434 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507906 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507909 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856922 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278266 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278278 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278280 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278300 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278309 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278316 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278319 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278322 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278327 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192913 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192915 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192926 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192927 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192932 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192933 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192934 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD31528 (Get FASTA)   NCBI Sequence Viewer  
  AAD34065 (Get FASTA)   NCBI Sequence Viewer  
  AAF67486 (Get FASTA)   NCBI Sequence Viewer  
  AAH15521 (Get FASTA)   NCBI Sequence Viewer  
  AAH25369 (Get FASTA)   NCBI Sequence Viewer  
  AAP35436 (Get FASTA)   NCBI Sequence Viewer  
  BAG37054 (Get FASTA)   NCBI Sequence Viewer  
  BAG59125 (Get FASTA)   NCBI Sequence Viewer  
  BAG62921 (Get FASTA)   NCBI Sequence Viewer  
  BAH14435 (Get FASTA)   NCBI Sequence Viewer  
  EAW91233 (Get FASTA)   NCBI Sequence Viewer  
  EAW91234 (Get FASTA)   NCBI Sequence Viewer  
  EAW91235 (Get FASTA)   NCBI Sequence Viewer  
  EAW91236 (Get FASTA)   NCBI Sequence Viewer  
  EAW91237 (Get FASTA)   NCBI Sequence Viewer  
  EAW91238 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356418
  ENSP00000356418.1
  ENSP00000356419
  ENSP00000356419.1
  ENSP00000356420
  ENSP00000356420.3
  ENSP00000356421
  ENSP00000356421.4
  ENSP00000356424
  ENSP00000356424.1
  ENSP00000356425
  ENSP00000356425.3
  ENSP00000389563
  ENSP00000389563.1
  ENSP00000391153
  ENSP00000391153.1
  ENSP00000392416.1
  ENSP00000402847.1
  ENSP00000408720
  ENSP00000408720.1
  ENSP00000412265.1
GenBank Protein Q9Y5K5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001186190   ⟸   NM_001199261
- Peptide Label: isoform 2
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057068   ⟸   NM_015984
- Peptide Label: isoform 1
- UniProtKB: Q9P0I3 (UniProtKB/Swiss-Prot),   Q9H1W5 (UniProtKB/Swiss-Prot),   Q96BJ9 (UniProtKB/Swiss-Prot),   Q8TBS4 (UniProtKB/Swiss-Prot),   Q5LJA7 (UniProtKB/Swiss-Prot),   Q5LJA6 (UniProtKB/Swiss-Prot),   Q9UQN2 (UniProtKB/Swiss-Prot),   Q9Y5K5 (UniProtKB/Swiss-Prot),   B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186192   ⟸   NM_001199263
- Peptide Label: isoform 4
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186191   ⟸   NM_001199262
- Peptide Label: isoform 3
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711430   ⟸   XM_006711367
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711434   ⟸   XM_006711371
- Peptide Label: isoform X17
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711433   ⟸   XM_006711370
- Peptide Label: isoform X6
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711432   ⟸   XM_006711369
- Peptide Label: isoform X2
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507909   ⟸   XM_011509607
- Peptide Label: isoform X8
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507906   ⟸   XM_011509604
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856927   ⟸   XM_017001438
- Peptide Label: isoform X17
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856922   ⟸   XM_017001433
- Peptide Label: isoform X3
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337773   ⟸   NM_001350844
- Peptide Label: isoform 9
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337769   ⟸   NM_001350840
- Peptide Label: isoform 5
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337779   ⟸   NM_001350850
- Peptide Label: isoform 14
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337777   ⟸   NM_001350848
- Peptide Label: isoform 13
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337776   ⟸   NM_001350847
- Peptide Label: isoform 12
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337775   ⟸   NM_001350846
- Peptide Label: isoform 11
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337780   ⟸   NM_001350851
- Peptide Label: isoform 14
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337778   ⟸   NM_001350849
- Peptide Label: isoform 13
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337771   ⟸   NM_001350842
- Peptide Label: isoform 7
- UniProtKB: Q5LJA5 (UniProtKB/TrEMBL),   Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337772   ⟸   NM_001350843
- Peptide Label: isoform 8
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337770   ⟸   NM_001350841
- Peptide Label: isoform 6
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337781   ⟸   NM_001350852
- Peptide Label: isoform 15
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337774   ⟸   NM_001350845
- Peptide Label: isoform 10
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000392416   ⟸   ENST00000416915
Ensembl Acc Id: ENSP00000412265   ⟸   ENST00000417752
Ensembl Acc Id: ENSP00000391153   ⟸   ENST00000443327
Ensembl Acc Id: ENSP00000356424   ⟸   ENST00000367454
Ensembl Acc Id: ENSP00000356425   ⟸   ENST00000367455
Ensembl Acc Id: ENSP00000356420   ⟸   ENST00000367450
Ensembl Acc Id: ENSP00000356421   ⟸   ENST00000367451
Ensembl Acc Id: ENSP00000356419   ⟸   ENST00000367449
Ensembl Acc Id: ENSP00000356418   ⟸   ENST00000367448
Ensembl Acc Id: ENSP00000402847   ⟸   ENST00000449480
Ensembl Acc Id: ENSP00000408720   ⟸   ENST00000420791
Ensembl Acc Id: ENSP00000389563   ⟸   ENST00000421683
RefSeq Acc Id: XP_047278285   ⟸   XM_047422329
- Peptide Label: isoform X7
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278289   ⟸   XM_047422333
- Peptide Label: isoform X9
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278316   ⟸   XM_047422360
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047278322   ⟸   XM_047422366
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047278327   ⟸   XM_047422371
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047278309   ⟸   XM_047422353
- Peptide Label: isoform X11
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278319   ⟸   XM_047422363
- Peptide Label: isoform X13
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278300   ⟸   XM_047422344
- Peptide Label: isoform X10
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278328   ⟸   XM_047422372
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047278266   ⟸   XM_047422310
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278280   ⟸   XM_047422324
- Peptide Label: isoform X5
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278278   ⟸   XM_047422322
- Peptide Label: isoform X4
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192923   ⟸   XM_054336948
- Peptide Label: isoform X7
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192922   ⟸   XM_054336947
- Peptide Label: isoform X6
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192933   ⟸   XM_054336958
- Peptide Label: isoform X17
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192925   ⟸   XM_054336950
- Peptide Label: isoform X9
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192924   ⟸   XM_054336949
- Peptide Label: isoform X8
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192934   ⟸   XM_054336959
- Peptide Label: isoform X17
- UniProtKB: B7Z9U9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192914   ⟸   XM_054336939
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192928   ⟸   XM_054336953
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054192930   ⟸   XM_054336955
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054192931   ⟸   XM_054336956
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054192927   ⟸   XM_054336952
- Peptide Label: isoform X11
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192929   ⟸   XM_054336954
- Peptide Label: isoform X13
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192926   ⟸   XM_054336951
- Peptide Label: isoform X10
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192919   ⟸   XM_054336944
- Peptide Label: isoform X3
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192918   ⟸   XM_054336943
- Peptide Label: isoform X19
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192917   ⟸   XM_054336942
- Peptide Label: isoform X2
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192916   ⟸   XM_054336941
- Peptide Label: isoform X18
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192913   ⟸   XM_054336938
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192932   ⟸   XM_054336957
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054192915   ⟸   XM_054336940
- Peptide Label: isoform X1
- UniProtKB: Q5LJA9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192921   ⟸   XM_054336946
- Peptide Label: isoform X5
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192920   ⟸   XM_054336945
- Peptide Label: isoform X4
- UniProtKB: B2RB07 (UniProtKB/TrEMBL)
Protein Domains
Ubiquitin carboxyl-terminal hydrolase family   UCH catalytic   UCH37-like C-terminal   ULD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5K5-F1-model_v2 AlphaFold Q9Y5K5 1-329 view protein structure

Promoters
RGD ID:6787172
Promoter ID:HG_KWN:6629
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000367449,   ENST00000367450,   ENST00000367451,   ENST00000367452,   ENST00000367453,   ENST00000367454,   ENST00000391991,   OTTHUMT00000086318,   OTTHUMT00000086678,   OTTHUMT00000086679,   OTTHUMT00000086681,   UC001GSN.1,   UC001GSP.1,   UC001GSR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361191,294,431 - 191,295,187 (-)MPROMDB
RGD ID:6858430
Promoter ID:EPDNEW_H2380
Type:initiation region
Name:UCHL5_1
Description:ubiquitin C-terminal hydrolase L5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2382  EPDNEW_H2384  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,059,339 - 193,059,399EPDNEW
RGD ID:6858434
Promoter ID:EPDNEW_H2382
Type:initiation region
Name:UCHL5_3
Description:ubiquitin C-terminal hydrolase L5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2380  EPDNEW_H2384  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,059,510 - 193,059,570EPDNEW
RGD ID:6858438
Promoter ID:EPDNEW_H2384
Type:initiation region
Name:UCHL5_2
Description:ubiquitin C-terminal hydrolase L5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2380  EPDNEW_H2382  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381193,060,075 - 193,060,135EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19678 AgrOrtholog
COSMIC UCHL5 COSMIC
Ensembl Genes ENSG00000116750 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367448 ENTREZGENE
  ENST00000367448.5 UniProtKB/Swiss-Prot
  ENST00000367449 ENTREZGENE
  ENST00000367449.5 UniProtKB/Swiss-Prot
  ENST00000367450 ENTREZGENE
  ENST00000367450.7 UniProtKB/TrEMBL
  ENST00000367451 ENTREZGENE
  ENST00000367451.8 UniProtKB/TrEMBL
  ENST00000367454 ENTREZGENE
  ENST00000367454.6 UniProtKB/Swiss-Prot
  ENST00000367455 ENTREZGENE
  ENST00000367455.8 UniProtKB/Swiss-Prot
  ENST00000416915.1 UniProtKB/TrEMBL
  ENST00000417752.1 UniProtKB/TrEMBL
  ENST00000420791 ENTREZGENE
  ENST00000420791.5 UniProtKB/TrEMBL
  ENST00000421683 ENTREZGENE
  ENST00000421683.1 UniProtKB/TrEMBL
  ENST00000443327 ENTREZGENE
  ENST00000443327.5 UniProtKB/TrEMBL
  ENST00000449480.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.860 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.532.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116750 GTEx
HGNC ID HGNC:19678 ENTREZGENE
Human Proteome Map UCHL5 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitinyl_hydrolase_UCH37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51377 UniProtKB/Swiss-Prot
NCBI Gene 51377 ENTREZGENE
OMIM 610667 OMIM
PANTHER PTHR10589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE ISOZYME L5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_C12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134916228 PharmGKB
PIRSF Ubiquitinyl_hydrolase_UCH37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS UBCTHYDRLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE UCH_DOMAIN UniProtKB/Swiss-Prot
  ULD UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RB07 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9U9 ENTREZGENE, UniProtKB/TrEMBL
  H0Y4E0_HUMAN UniProtKB/TrEMBL
  H0Y4K0_HUMAN UniProtKB/TrEMBL
  H0Y636_HUMAN UniProtKB/TrEMBL
  H0Y6Y4_HUMAN UniProtKB/TrEMBL
  Q5LJA5 ENTREZGENE, UniProtKB/TrEMBL
  Q5LJA6 ENTREZGENE
  Q5LJA7 ENTREZGENE
  Q5LJA9 ENTREZGENE, UniProtKB/TrEMBL
  Q5LJB0_HUMAN UniProtKB/TrEMBL
  Q5LJB1_HUMAN UniProtKB/TrEMBL
  Q8TBS4 ENTREZGENE
  Q96BJ9 ENTREZGENE
  Q9H1W5 ENTREZGENE
  Q9P0I3 ENTREZGENE
  Q9UQN2 ENTREZGENE
  Q9Y5K5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5LJA6 UniProtKB/Swiss-Prot
  Q5LJA7 UniProtKB/Swiss-Prot
  Q8TBS4 UniProtKB/Swiss-Prot
  Q96BJ9 UniProtKB/Swiss-Prot
  Q9H1W5 UniProtKB/Swiss-Prot
  Q9P0I3 UniProtKB/Swiss-Prot
  Q9UQN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 UCHL5  ubiquitin C-terminal hydrolase L5    ubiquitin carboxyl-terminal hydrolase L5  Symbol and/or name change 5135510 APPROVED