SHKBP1 (SH3KBP1 binding protein 1) - Rat Genome Database

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Gene: SHKBP1 (SH3KBP1 binding protein 1) Homo sapiens
Analyze
Symbol: SHKBP1
Name: SH3KBP1 binding protein 1
RGD ID: 1352927
HGNC Page HGNC:19214
Description: Enables identical protein binding activity. Predicted to be involved in positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in lysosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PP203; Sb1; SETA-binding protein 1; SH3KBP1-binding protein 1
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
GRCh381940,576,873 - 40,591,397 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,576,853 - 40,591,399 (+)EnsemblGRCh38hg38GRCh38
GRCh371941,082,779 - 41,097,303 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,774,630 - 45,789,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 341945,774,629 - 45,789,141NCBI
Celera1937,881,810 - 37,896,356 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,517,305 - 37,531,390 (+)NCBIHuRef
CHM1_11941,082,689 - 41,097,190 (+)NCBICHM1_1
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
lysosome  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. SETA is a multifunctional adapter protein with three SH3 domains that binds Grb2, Cbl, and the novel SB1 proteins. Borinstein SC, etal., Cell Signal 2000 Dec;12(11-12):769-79.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:15324660   PMID:16169070   PMID:16344560   PMID:16733801   PMID:19531213   PMID:19615732   PMID:21145461   PMID:21830225   PMID:21873635  
PMID:21988832   PMID:22678362   PMID:24255178   PMID:25457385   PMID:25662211   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:27432908   PMID:27565346  
PMID:27803151   PMID:27880917   PMID:28330616   PMID:28514442   PMID:28611215   PMID:28675297   PMID:28786561   PMID:28963344   PMID:28986522   PMID:29117863   PMID:29395067   PMID:29509190  
PMID:29669786   PMID:30404837   PMID:31091453   PMID:31138318   PMID:31300519   PMID:31527615   PMID:31871319   PMID:32296183   PMID:32600329   PMID:32707033   PMID:33644029   PMID:33961781  
PMID:34079125   PMID:34315543   PMID:34316702   PMID:34591642   PMID:35271311   PMID:35384245   PMID:35563538   PMID:35952650   PMID:36123327   PMID:36931259   PMID:37499664   PMID:37640791  
PMID:38697112   PMID:38803224   PMID:39098523   PMID:39358380  


Genomics

Comparative Map Data
SHKBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381940,576,873 - 40,591,397 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1940,576,853 - 40,591,399 (+)EnsemblGRCh38hg38GRCh38
GRCh371941,082,779 - 41,097,303 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,774,630 - 45,789,141 (+)NCBINCBI36Build 36hg18NCBI36
Build 341945,774,629 - 45,789,141NCBI
Celera1937,881,810 - 37,896,356 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1937,517,305 - 37,531,390 (+)NCBIHuRef
CHM1_11941,082,689 - 41,097,190 (+)NCBICHM1_1
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBIT2T-CHM13v2.0
Shkbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39727,041,553 - 27,055,440 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl727,041,558 - 27,055,444 (-)EnsemblGRCm39 Ensembl
GRCm38727,342,128 - 27,356,015 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl727,342,133 - 27,356,019 (-)EnsemblGRCm38mm10GRCm38
MGSCv37728,127,152 - 28,141,027 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36727,050,897 - 27,064,779 (-)NCBIMGSCv36mm8
Celera721,921,926 - 21,935,907 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map715.88NCBI
Shkbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8191,764,426 - 91,777,959 (-)NCBIGRCr8
mRatBN7.2182,636,797 - 82,650,330 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl182,636,797 - 82,650,375 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx188,039,474 - 88,052,984 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0196,526,308 - 96,539,792 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0189,795,329 - 89,808,840 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0184,154,703 - 84,168,074 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl184,154,703 - 84,168,074 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0185,365,817 - 85,379,188 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4182,422,792 - 82,436,208 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1182,500,913 - 82,514,376 (-)NCBI
Celera177,048,385 - 77,061,819 (-)NCBICelera
Cytogenetic Map1q21NCBI
Shkbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955578716,632 - 730,593 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955578716,818 - 730,593 (-)NCBIChiLan1.0ChiLan1.0
SHKBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22046,836,135 - 46,850,721 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11948,707,060 - 48,721,631 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01937,621,867 - 37,636,431 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11946,128,717 - 46,143,423 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1946,128,717 - 46,143,423 (+)Ensemblpanpan1.1panPan2
SHKBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,154,285 - 113,165,988 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,154,460 - 113,165,992 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,556,527 - 112,568,204 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,752,860 - 113,764,552 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1113,752,862 - 113,764,574 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,312,464 - 113,324,148 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01112,944,344 - 112,956,029 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01113,938,677 - 113,950,366 (-)NCBIUU_Cfam_GSD_1.0
Shkbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934914,475,905 - 14,487,839 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366612,903,938 - 2,915,910 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366612,903,986 - 2,915,908 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHKBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl648,813,168 - 48,826,457 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1648,813,163 - 48,826,461 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SHKBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1635,036,834 - 35,050,953 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607313,160,024 - 13,173,997 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shkbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624925529,182 - 542,436 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624925529,333 - 542,230 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHKBP1
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_138392.4(SHKBP1):c.2009T>C (p.Leu670Pro) single nucleotide variant not specified [RCV004307051] Chr19:40591092 [GRCh38]
Chr19:41096998 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_138392.4(SHKBP1):c.50C>A (p.Pro17His) single nucleotide variant not specified [RCV004299457] Chr19:40576949 [GRCh38]
Chr19:41082855 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1955A>G (p.Gln652Arg) single nucleotide variant not specified [RCV004324644] Chr19:40591038 [GRCh38]
Chr19:41096944 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NC_000019.9:g.(?_40882496)_(41135455_?)dup duplication not provided [RCV003116579] Chr19:40882496..41135455 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1939A>G (p.Ser647Gly) single nucleotide variant not specified [RCV004134241] Chr19:40591022 [GRCh38]
Chr19:41096928 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.698G>A (p.Arg233His) single nucleotide variant not specified [RCV004171328] Chr19:40580790 [GRCh38]
Chr19:41086696 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1501G>A (p.Gly501Ser) single nucleotide variant not specified [RCV004216985] Chr19:40589090 [GRCh38]
Chr19:41094996 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.382G>T (p.Gly128Cys) single nucleotide variant not specified [RCV004201427] Chr19:40578524 [GRCh38]
Chr19:41084430 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1973G>A (p.Arg658His) single nucleotide variant not specified [RCV004151686] Chr19:40591056 [GRCh38]
Chr19:41096962 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1518G>C (p.Gln506His) single nucleotide variant not specified [RCV004169565] Chr19:40589107 [GRCh38]
Chr19:41095013 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.115T>G (p.Trp39Gly) single nucleotide variant not specified [RCV004138329] Chr19:40577259 [GRCh38]
Chr19:41083165 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1624A>C (p.Thr542Pro) single nucleotide variant not specified [RCV004126075] Chr19:40590278 [GRCh38]
Chr19:41096184 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1877G>A (p.Arg626His) single nucleotide variant not specified [RCV004082702] Chr19:40590838 [GRCh38]
Chr19:41096744 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.249G>T (p.Glu83Asp) single nucleotide variant not specified [RCV004166518] Chr19:40577619 [GRCh38]
Chr19:41083525 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1588C>T (p.Arg530Trp) single nucleotide variant not specified [RCV004229116] Chr19:40589177 [GRCh38]
Chr19:41095083 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.460C>T (p.Arg154Trp) single nucleotide variant not specified [RCV004202282] Chr19:40580383 [GRCh38]
Chr19:41086289 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1253C>G (p.Ser418Trp) single nucleotide variant not specified [RCV004184016] Chr19:40586861 [GRCh38]
Chr19:41092767 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.380A>G (p.Asn127Ser) single nucleotide variant not specified [RCV004073733] Chr19:40578522 [GRCh38]
Chr19:41084428 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1715G>A (p.Ser572Asn) single nucleotide variant not specified [RCV004132618] Chr19:40590369 [GRCh38]
Chr19:41096275 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.275C>A (p.Ser92Tyr) single nucleotide variant not specified [RCV004094381] Chr19:40578168 [GRCh38]
Chr19:41084074 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1378C>T (p.Arg460Cys) single nucleotide variant not specified [RCV004217802] Chr19:40588665 [GRCh38]
Chr19:41094571 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1547G>A (p.Ser516Asn) single nucleotide variant not specified [RCV004079076] Chr19:40589136 [GRCh38]
Chr19:41095042 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.646T>G (p.Cys216Gly) single nucleotide variant not specified [RCV004279459] Chr19:40580649 [GRCh38]
Chr19:41086555 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1069C>T (p.Arg357Cys) single nucleotide variant not specified [RCV004266758] Chr19:40583621 [GRCh38]
Chr19:41089527 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.256C>T (p.Pro86Ser) single nucleotide variant not specified [RCV004355089] Chr19:40577626 [GRCh38]
Chr19:41083532 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.556C>T (p.Pro186Ser) single nucleotide variant not specified [RCV004344139] Chr19:40580479 [GRCh38]
Chr19:41086385 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.827G>A (p.Gly276Asp) single nucleotide variant not specified [RCV004355615] Chr19:40580919 [GRCh38]
Chr19:41086825 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.151G>A (p.Gly51Arg) single nucleotide variant not specified [RCV004351509] Chr19:40577406 [GRCh38]
Chr19:41083312 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1587G>C (p.Gln529His) single nucleotide variant not specified [RCV004359748] Chr19:40589176 [GRCh38]
Chr19:41095082 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_138392.4(SHKBP1):c.1273A>G (p.Thr425Ala) single nucleotide variant not specified [RCV004451132] Chr19:40586881 [GRCh38]
Chr19:41092787 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1388G>A (p.Gly463Asp) single nucleotide variant not specified [RCV004451134] Chr19:40588675 [GRCh38]
Chr19:41094581 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.14C>T (p.Ala5Val) single nucleotide variant not specified [RCV004451135] Chr19:40576913 [GRCh38]
Chr19:41082819 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1832C>T (p.Ala611Val) single nucleotide variant not specified [RCV004451139] Chr19:40590793 [GRCh38]
Chr19:41096699 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.2081C>T (p.Pro694Leu) single nucleotide variant not specified [RCV004451141] Chr19:40591164 [GRCh38]
Chr19:41097070 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.547C>T (p.Pro183Ser) single nucleotide variant not specified [RCV004451145] Chr19:40580470 [GRCh38]
Chr19:41086376 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.695C>T (p.Pro232Leu) single nucleotide variant not specified [RCV004451146] Chr19:40580787 [GRCh38]
Chr19:41086693 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.943G>A (p.Val315Ile) single nucleotide variant not specified [RCV004451148] Chr19:40582449 [GRCh38]
Chr19:41088355 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1288C>T (p.Arg430Cys) single nucleotide variant not specified [RCV004451133] Chr19:40586896 [GRCh38]
Chr19:41092802 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1966C>T (p.Arg656Trp) single nucleotide variant not specified [RCV004451140] Chr19:40591049 [GRCh38]
Chr19:41096955 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.829G>A (p.Gly277Ser) single nucleotide variant not specified [RCV004451147] Chr19:40580921 [GRCh38]
Chr19:41086827 [GRCh37]
Chr19:19q13.2		 likely benign
NM_138392.4(SHKBP1):c.101G>T (p.Arg34Leu) single nucleotide variant not specified [RCV004451130] Chr19:40577245 [GRCh38]
Chr19:41083151 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1118C>G (p.Ala373Gly) single nucleotide variant not specified [RCV004451131] Chr19:40583670 [GRCh38]
Chr19:41089576 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1513G>A (p.Asp505Asn) single nucleotide variant not specified [RCV004451136] Chr19:40589102 [GRCh38]
Chr19:41095008 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1756G>A (p.Gly586Ser) single nucleotide variant not specified [RCV004451138] Chr19:40590410 [GRCh38]
Chr19:41096316 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.263G>T (p.Gly88Val) single nucleotide variant not specified [RCV004451142] Chr19:40578156 [GRCh38]
Chr19:41084062 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.424C>T (p.Arg142Trp) single nucleotide variant not specified [RCV004451143] Chr19:40580347 [GRCh38]
Chr19:41086253 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1600G>A (p.Val534Met) single nucleotide variant not specified [RCV004667389] Chr19:40590254 [GRCh38]
Chr19:41096160 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1588C>G (p.Arg530Gly) single nucleotide variant not specified [RCV004667390] Chr19:40589177 [GRCh38]
Chr19:41095083 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.2078C>G (p.Thr693Ser) single nucleotide variant not specified [RCV004667391] Chr19:40591161 [GRCh38]
Chr19:41097067 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.2033G>A (p.Arg678Gln) single nucleotide variant not specified [RCV004667392] Chr19:40591116 [GRCh38]
Chr19:41097022 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1781C>T (p.Thr594Met) single nucleotide variant not specified [RCV004676378] Chr19:40590742 [GRCh38]
Chr19:41096648 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.180C>T (p.Thr60=) single nucleotide variant not specified [RCV004676379] Chr19:40577435 [GRCh38]
Chr19:41083341 [GRCh37]
Chr19:19q13.2		 likely benign
NM_138392.4(SHKBP1):c.1681C>G (p.Arg561Gly) single nucleotide variant not specified [RCV004676380] Chr19:40590335 [GRCh38]
Chr19:41096241 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1564G>T (p.Val522Leu) single nucleotide variant not specified [RCV004861762] Chr19:40589153 [GRCh38]
Chr19:41095059 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.311C>G (p.Thr104Ser) single nucleotide variant not specified [RCV004861763] Chr19:40578204 [GRCh38]
Chr19:41084110 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.527G>A (p.Arg176Gln) single nucleotide variant not specified [RCV004861756] Chr19:40580450 [GRCh38]
Chr19:41086356 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1603C>T (p.Arg535Cys) single nucleotide variant not specified [RCV004861759] Chr19:40590257 [GRCh38]
Chr19:41096163 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.995C>T (p.Ala332Val) single nucleotide variant not specified [RCV004861758] Chr19:40583432 [GRCh38]
Chr19:41089338 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1253C>T (p.Ser418Leu) single nucleotide variant not specified [RCV004861761] Chr19:40586861 [GRCh38]
Chr19:41092767 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.271G>A (p.Gly91Ser) single nucleotide variant not specified [RCV004861765] Chr19:40578164 [GRCh38]
Chr19:41084070 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.974A>T (p.Gln325Leu) single nucleotide variant not specified [RCV004861766] Chr19:40583411 [GRCh38]
Chr19:41089317 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1604G>A (p.Arg535His) single nucleotide variant not specified [RCV004861757] Chr19:40590258 [GRCh38]
Chr19:41096164 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_138392.4(SHKBP1):c.1808A>G (p.Glu603Gly) single nucleotide variant not specified [RCV004861764] Chr19:40590769 [GRCh38]
Chr19:41096675 [GRCh37]
Chr19:19q13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:8327
Count of miRNA genes:1069
Interacting mature miRNAs:1350
Transcripts:ENST00000291842, ENST00000593764, ENST00000594298, ENST00000594862, ENST00000594973, ENST00000595523, ENST00000595631, ENST00000595726, ENST00000595803, ENST00000595874, ENST00000595945, ENST00000596163, ENST00000597325, ENST00000597396, ENST00000597649, ENST00000598201, ENST00000598558, ENST00000598907, ENST00000599575, ENST00000599716, ENST00000599833, ENST00000600320, ENST00000600552, ENST00000600718, ENST00000600733, ENST00000600791, ENST00000602011, ENST00000602239
Prediction methods:Microtar, Miranda, Rnahybrid
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
597057158GWAS1153232_HCleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement QTL GWAS1153232 (human)0.000005Cleft palate, tobacco smoke exposure measurement, cleft lip, parental genotype effect measurement194057878740578788Human
597212280GWAS1308354_Hmathematical ability QTL GWAS1308354 (human)3e-08mathematical ability194058939440589395Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
597109093GWAS1205167_Hmathematical ability QTL GWAS1205167 (human)1e-08mathematical ability194058939440589395Human
597050514GWAS1146588_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146588 (human)0.0000006Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)194058158540581586Human
597045682GWAS1141756_Hhemoglobin measurement QTL GWAS1141756 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)194058191140581912Human
597320766GWAS1416840_HIschemic stroke QTL GWAS1416840 (human)3e-08Ischemic stroke194058209340582094Human
597315414GWAS1411488_Hbilirubin measurement QTL GWAS1411488 (human)7e-09bilirubin measurementserum total bilirubin level (CMO:0000376)194058428440584285Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
597206102GWAS1302176_Hmathematical ability QTL GWAS1302176 (human)6e-09mathematical ability194058939440589395Human
597050425GWAS1146499_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146499 (human)5e-08Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)194058158540581586Human

Markers in Region
RH94117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,097,099 - 41,097,222UniSTSGRCh37
Build 361945,788,939 - 45,789,062RGDNCBI36
Celera1937,896,150 - 37,896,273RGD
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1937,531,184 - 37,531,307UniSTS
GeneMap99-GB4 RH Map19234.96UniSTS
SPTBN4_2491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,081,726 - 41,082,515UniSTSGRCh37
Build 361945,773,566 - 45,774,355RGDNCBI36
Celera1937,880,777 - 37,881,568RGD
HuRef1937,516,274 - 37,517,063UniSTS


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 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_138392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA416700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB038927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000291842   ⟹   ENSP00000291842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,873 - 40,591,397 (+)Ensembl
Ensembl Acc Id: ENST00000593764   ⟹   ENSP00000471173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,583,609 - 40,591,288 (+)Ensembl
Ensembl Acc Id: ENST00000594298   ⟹   ENSP00000471296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,586,774 - 40,591,396 (+)Ensembl
Ensembl Acc Id: ENST00000594862   ⟹   ENSP00000471845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,589,101 - 40,591,399 (+)Ensembl
Ensembl Acc Id: ENST00000594973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,229 - 40,591,395 (+)Ensembl
Ensembl Acc Id: ENST00000595523   ⟹   ENSP00000468885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,176 - 40,580,472 (+)Ensembl
Ensembl Acc Id: ENST00000595631   ⟹   ENSP00000469014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,158 - 40,580,627 (+)Ensembl
Ensembl Acc Id: ENST00000595726   ⟹   ENSP00000470505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,588,739 - 40,591,397 (+)Ensembl
Ensembl Acc Id: ENST00000595803   ⟹   ENSP00000470514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,853 - 40,580,650 (+)Ensembl
Ensembl Acc Id: ENST00000595874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,580,899 - 40,582,515 (+)Ensembl
Ensembl Acc Id: ENST00000595945   ⟹   ENSP00000469878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,865 - 40,580,866 (+)Ensembl
Ensembl Acc Id: ENST00000596163   ⟹   ENSP00000472222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,586,855 - 40,591,296 (+)Ensembl
Ensembl Acc Id: ENST00000597325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,178 - 40,578,177 (+)Ensembl
Ensembl Acc Id: ENST00000597396   ⟹   ENSP00000471408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,586,896 - 40,591,392 (+)Ensembl
Ensembl Acc Id: ENST00000597649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,585,573 - 40,590,355 (+)Ensembl
Ensembl Acc Id: ENST00000598201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,580,167 - 40,591,395 (+)Ensembl
Ensembl Acc Id: ENST00000598558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,158 - 40,580,463 (+)Ensembl
Ensembl Acc Id: ENST00000598907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,578,196 - 40,580,883 (+)Ensembl
Ensembl Acc Id: ENST00000599575   ⟹   ENSP00000472813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,867 - 40,580,838 (+)Ensembl
Ensembl Acc Id: ENST00000599716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,887 - 40,577,929 (+)Ensembl
Ensembl Acc Id: ENST00000599833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,586,693 - 40,590,806 (+)Ensembl
Ensembl Acc Id: ENST00000600320   ⟹   ENSP00000469713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,583,649 - 40,591,368 (+)Ensembl
Ensembl Acc Id: ENST00000600552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,577,082 - 40,580,395 (+)Ensembl
Ensembl Acc Id: ENST00000600718   ⟹   ENSP00000471406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,916 - 40,591,368 (+)Ensembl
Ensembl Acc Id: ENST00000600733   ⟹   ENSP00000472711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,576,855 - 40,591,397 (+)Ensembl
Ensembl Acc Id: ENST00000600791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,583,460 - 40,588,803 (+)Ensembl
Ensembl Acc Id: ENST00000602011   ⟹   ENSP00000470517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,583,466 - 40,591,179 (+)Ensembl
Ensembl Acc Id: ENST00000602239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1940,590,209 - 40,591,087 (+)Ensembl
RefSeq Acc Id: NM_138392   ⟹   NP_612401
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
GRCh371941,082,757 - 41,097,305 (+)RGD
Build 361945,774,630 - 45,789,141 (+)NCBI Archive
Celera1937,881,810 - 37,896,356 (+)RGD
HuRef1937,517,305 - 37,531,390 (+)RGD
CHM1_11941,082,689 - 41,097,190 (+)NCBI
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723474   ⟹   XP_006723537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723475   ⟹   XP_006723538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527492   ⟹   XP_011525794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527493   ⟹   XP_011525795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,577,576 - 40,591,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027473   ⟹   XP_016882962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439684   ⟹   XP_047295640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,873 - 40,591,397 (+)NCBI
RefSeq Acc Id: XM_054322615   ⟹   XP_054178590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
RefSeq Acc Id: XM_054322616   ⟹   XP_054178591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
RefSeq Acc Id: XM_054322617   ⟹   XP_054178592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
RefSeq Acc Id: XM_054322618   ⟹   XP_054178593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
RefSeq Acc Id: XM_054322619   ⟹   XP_054178594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,397,488 - 43,411,988 (+)NCBI
RefSeq Acc Id: XM_054322620   ⟹   XP_054178595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01943,398,171 - 43,411,988 (+)NCBI
Protein Sequences
Protein RefSeqs NP_612401 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723537 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723538 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525794 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525795 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178590 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178592 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178594 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178595 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG23756 (Get FASTA)   NCBI Sequence Viewer  
  AAH07653 (Get FASTA)   NCBI Sequence Viewer  
  AAH22855 (Get FASTA)   NCBI Sequence Viewer  
  BAC11374 (Get FASTA)   NCBI Sequence Viewer  
  BAG35616 (Get FASTA)   NCBI Sequence Viewer  
  BAG53940 (Get FASTA)   NCBI Sequence Viewer  
  BAG59542 (Get FASTA)   NCBI Sequence Viewer  
  BAG62464 (Get FASTA)   NCBI Sequence Viewer  
  BAG62474 (Get FASTA)   NCBI Sequence Viewer  
  CAH05525 (Get FASTA)   NCBI Sequence Viewer  
  EAW56979 (Get FASTA)   NCBI Sequence Viewer  
  EAW56980 (Get FASTA)   NCBI Sequence Viewer  
  EAW56981 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000291842
  ENSP00000291842.4
  ENSP00000468885.1
  ENSP00000469014.1
  ENSP00000469713.1
  ENSP00000469878.1
  ENSP00000470505.1
  ENSP00000470514.1
  ENSP00000470517.1
  ENSP00000471173.1
  ENSP00000471296.1
  ENSP00000471406.1
  ENSP00000471408.1
  ENSP00000471845.1
  ENSP00000472222.1
  ENSP00000472711.1
  ENSP00000472813.1
GenBank Protein Q8TBC3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_612401   ⟸   NM_138392
- UniProtKB: Q8WY93 (UniProtKB/Swiss-Prot),   Q8N2I6 (UniProtKB/Swiss-Prot),   Q96IB8 (UniProtKB/Swiss-Prot),   Q8TBC3 (UniProtKB/Swiss-Prot),   B2R6W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006723537   ⟸   XM_006723474
- Peptide Label: isoform X1
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006723538   ⟸   XM_006723475
- Peptide Label: isoform X2
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525794   ⟸   XM_011527492
- Peptide Label: isoform X4
- UniProtKB: M0R2P6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525795   ⟸   XM_011527493
- Peptide Label: isoform X6
- UniProtKB: B3KVX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882962   ⟸   XM_017027473
- Peptide Label: isoform X3
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000291842   ⟸   ENST00000291842
Ensembl Acc Id: ENSP00000471845   ⟸   ENST00000594862
Ensembl Acc Id: ENSP00000469014   ⟸   ENST00000595631
Ensembl Acc Id: ENSP00000468885   ⟸   ENST00000595523
Ensembl Acc Id: ENSP00000469878   ⟸   ENST00000595945
Ensembl Acc Id: ENSP00000470514   ⟸   ENST00000595803
Ensembl Acc Id: ENSP00000470505   ⟸   ENST00000595726
Ensembl Acc Id: ENSP00000472222   ⟸   ENST00000596163
Ensembl Acc Id: ENSP00000471408   ⟸   ENST00000597396
Ensembl Acc Id: ENSP00000472813   ⟸   ENST00000599575
Ensembl Acc Id: ENSP00000469713   ⟸   ENST00000600320
Ensembl Acc Id: ENSP00000471406   ⟸   ENST00000600718
Ensembl Acc Id: ENSP00000472711   ⟸   ENST00000600733
Ensembl Acc Id: ENSP00000470517   ⟸   ENST00000602011
Ensembl Acc Id: ENSP00000471173   ⟸   ENST00000593764
Ensembl Acc Id: ENSP00000471296   ⟸   ENST00000594298
RefSeq Acc Id: XP_047295640   ⟸   XM_047439684
- Peptide Label: isoform X5
- UniProtKB: M0R2P6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178590   ⟸   XM_054322615
- Peptide Label: isoform X1
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178591   ⟸   XM_054322616
- Peptide Label: isoform X2
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178592   ⟸   XM_054322617
- Peptide Label: isoform X3
- UniProtKB: B2R6W9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178593   ⟸   XM_054322618
- Peptide Label: isoform X4
- UniProtKB: M0R2P6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178594   ⟸   XM_054322619
- Peptide Label: isoform X5
- UniProtKB: M0R2P6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178595   ⟸   XM_054322620
- Peptide Label: isoform X6
- UniProtKB: B3KVX8 (UniProtKB/TrEMBL)
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBC3-F1-model_v2 AlphaFold Q8TBC3 1-707 view protein structure

Promoters
RGD ID:7239981
Promoter ID:EPDNEW_H25736
Type:initiation region
Name:SHKBP1_1
Description:SH3KBP1 binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381940,576,888 - 40,576,948EPDNEW
RGD ID:6796036
Promoter ID:HG_KWN:29977
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_138392,   UC002OOC.1,   UC002OOD.1,   UC002OOE.1,   UC002OOF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,774,354 - 45,774,854 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19214 AgrOrtholog
COSMIC SHKBP1 COSMIC
Ensembl Genes ENSG00000160410 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000291842 ENTREZGENE
  ENST00000291842.10 UniProtKB/Swiss-Prot
  ENST00000593764.5 UniProtKB/TrEMBL
  ENST00000594298.5 UniProtKB/TrEMBL
  ENST00000594862.1 UniProtKB/TrEMBL
  ENST00000595523.5 UniProtKB/TrEMBL
  ENST00000595631.5 UniProtKB/TrEMBL
  ENST00000595726.1 UniProtKB/TrEMBL
  ENST00000595803.5 UniProtKB/TrEMBL
  ENST00000595945.5 UniProtKB/TrEMBL
  ENST00000596163.5 UniProtKB/TrEMBL
  ENST00000597396.5 UniProtKB/TrEMBL
  ENST00000598201 ENTREZGENE
  ENST00000599575.5 UniProtKB/TrEMBL
  ENST00000600320.5 UniProtKB/TrEMBL
  ENST00000600718.5 UniProtKB/TrEMBL
  ENST00000600733.5 UniProtKB/TrEMBL
  ENST00000602011.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Potassium Channel Kv1.1, Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160410 GTEx
HGNC ID HGNC:19214 ENTREZGENE
Human Proteome Map SHKBP1 Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHKBP1/KCTD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHKBP1_KCTD3_BTB_POZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  T1-type_BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:92799 UniProtKB/Swiss-Prot
NCBI Gene 92799 ENTREZGENE
OMIM 617322 OMIM
PANTHER SETA BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3KBP1-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134954640 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6W9 ENTREZGENE, UniProtKB/TrEMBL
  B3KVX8 ENTREZGENE, UniProtKB/TrEMBL
  M0QX42_HUMAN UniProtKB/TrEMBL
  M0QXA4_HUMAN UniProtKB/TrEMBL
  M0QYB1_HUMAN UniProtKB/TrEMBL
  M0QYJ9_HUMAN UniProtKB/TrEMBL
  M0QZE8_HUMAN UniProtKB/TrEMBL
  M0QZF2_HUMAN UniProtKB/TrEMBL
  M0QZF4_HUMAN UniProtKB/TrEMBL
  M0R0E3_HUMAN UniProtKB/TrEMBL
  M0R0K4_HUMAN UniProtKB/TrEMBL
  M0R0S1_HUMAN UniProtKB/TrEMBL
  M0R0S2_HUMAN UniProtKB/TrEMBL
  M0R1G0_HUMAN UniProtKB/TrEMBL
  M0R204_HUMAN UniProtKB/TrEMBL
  M0R2P6 ENTREZGENE, UniProtKB/TrEMBL
  M0R2U6_HUMAN UniProtKB/TrEMBL
  Q8N2I6 ENTREZGENE
  Q8TBC3 ENTREZGENE
  Q8WY93 ENTREZGENE
  Q96IB8 ENTREZGENE
  SHKB1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8N2I6 UniProtKB/Swiss-Prot
  Q8WY93 UniProtKB/Swiss-Prot
  Q96IB8 UniProtKB/Swiss-Prot