UBQLN4 (ubiquilin 4) - Rat Genome Database

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Gene: UBQLN4 (ubiquilin 4) Homo sapiens
Analyze
Symbol: UBQLN4
Name: ubiquilin 4
RGD ID: 1344813
HGNC Page HGNC:1237
Description: Enables K48-linked polyubiquitin modification-dependent protein binding activity and identical protein binding activity. Involved in DNA damage response; negative regulation of double-strand break repair via homologous recombination; and regulation of catabolic process. Located in several cellular components, including autophagosome; proteasome complex; and site of DNA damage. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A1U; A1Up; ataxin-1 interacting ubiquitin-like protein; ataxin-1 ubiquitin-like interacting protein; ataxin-1 ubiquitin-like-interacting protein A1U; C1orf6; CIP75; connexin43-interacting protein of 75 kDa; Cx43-interacting protein of 75 kDa; UBIN; ubiquilin-4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: UBQLN4P1   UBQLN4P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,031,247 - 156,053,798 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,035,299 - 156,053,798 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,005,090 - 156,023,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,271,716 - 154,290,140 (-)NCBINCBI36Build 36hg18NCBI36
Build 341152,818,165 - 152,836,589NCBI
Celera1129,078,055 - 129,096,477 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,367,831 - 127,386,064 (-)NCBIHuRef
CHM1_11157,401,172 - 157,419,603 (-)NCBICHM1_1
T2T-CHM13v2.01155,169,709 - 155,192,264 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10575211   PMID:11001934   PMID:11162551   PMID:12477932   PMID:15231748   PMID:15280365   PMID:15489334   PMID:16169070   PMID:16713569   PMID:17290220   PMID:17558393   PMID:18079109  
PMID:18187620   PMID:18307982   PMID:20702650   PMID:20940304   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22939629   PMID:23128233   PMID:23459205   PMID:24256120   PMID:24811749  
PMID:25416956   PMID:25583071   PMID:26344197   PMID:26496610   PMID:26514267   PMID:27113755   PMID:27248496   PMID:27705803   PMID:28463112   PMID:28514442   PMID:28796060   PMID:29509190  
PMID:29666234   PMID:29807370   PMID:29899380   PMID:30442662   PMID:30612738   PMID:30664872   PMID:30804502   PMID:30884312   PMID:31073040   PMID:31699778   PMID:32161173   PMID:32558493  
PMID:32891193   PMID:33605536   PMID:33961781   PMID:34079125   PMID:34245648   PMID:34349018   PMID:34709727   PMID:35063084   PMID:35247097   PMID:35271311   PMID:35331737   PMID:35577504  
PMID:35914814   PMID:35987950   PMID:36215168   PMID:36291176   PMID:36610398   PMID:37689310   PMID:37702916   PMID:37788672   PMID:37931956   PMID:38803224   PMID:38969831  


Genomics

Comparative Map Data
UBQLN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381156,031,247 - 156,053,798 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1156,035,299 - 156,053,798 (-)EnsemblGRCh38hg38GRCh38
GRCh371156,005,090 - 156,023,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,271,716 - 154,290,140 (-)NCBINCBI36Build 36hg18NCBI36
Build 341152,818,165 - 152,836,589NCBI
Celera1129,078,055 - 129,096,477 (-)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1127,367,831 - 127,386,064 (-)NCBIHuRef
CHM1_11157,401,172 - 157,419,603 (-)NCBICHM1_1
T2T-CHM13v2.01155,169,709 - 155,192,264 (-)NCBIT2T-CHM13v2.0
Ubqln4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,460,984 - 88,477,032 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl388,461,065 - 88,477,032 (+)EnsemblGRCm39 Ensembl
GRCm38388,553,677 - 88,569,725 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,553,758 - 88,569,725 (+)EnsemblGRCm38mm10GRCm38
MGSCv37388,357,638 - 88,373,647 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36388,639,643 - 88,655,652 (+)NCBIMGSCv36mm8
Celera388,593,533 - 88,609,536 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map338.87NCBI
Ubqln4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,310,524 - 176,325,724 (+)NCBIGRCr8
mRatBN7.22174,012,726 - 174,028,062 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,012,777 - 174,028,059 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2181,156,886 - 181,172,060 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02179,179,251 - 179,194,425 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02173,779,342 - 173,794,732 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02187,915,701 - 187,931,035 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2187,915,751 - 187,931,035 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,318,101 - 207,333,435 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,669,525 - 180,684,724 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12180,619,753 - 180,633,903 (+)NCBI
Celera2167,957,113 - 167,972,312 (+)NCBICelera
Cytogenetic Map2q34NCBI
Ubqln4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,220,548 - 2,236,646 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,218,794 - 2,236,665 (-)NCBIChiLan1.0ChiLan1.0
UBQLN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2193,792,457 - 93,814,703 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1193,524,402 - 93,545,849 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,374,635 - 131,395,986 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11135,209,490 - 135,225,666 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,209,490 - 135,225,666 (-)Ensemblpanpan1.1panPan2
UBQLN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,764,209 - 41,778,457 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,764,253 - 41,777,002 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,253,685 - 41,267,979 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0741,630,903 - 41,645,198 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl741,630,863 - 41,645,198 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,411,750 - 41,426,044 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,465,103 - 41,479,633 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0741,749,531 - 41,763,822 (+)NCBIUU_Cfam_GSD_1.0
Ubqln4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,269,482 - 26,285,374 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365805,301,389 - 5,315,756 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365805,299,864 - 5,316,583 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBQLN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl493,976,451 - 93,994,828 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1493,976,386 - 93,994,830 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,719,204 - 102,737,608 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBQLN4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,811,275 - 7,829,782 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660387,107,553 - 7,127,896 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ubqln4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248851,383,897 - 1,398,484 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248851,382,302 - 1,398,474 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBQLN4
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020131.4(UBQLN4):c.1642G>T (p.Gly548Ter) single nucleotide variant Malignant melanoma [RCV000059919] Chr1:156041496 [GRCh38]
Chr1:156011287 [GRCh37]
Chr1:154277911 [NCBI36]
Chr1:1q22		 not provided
NM_014017.3(LAMTOR2):c.249C>T (p.Ile83=) single nucleotide variant Malignant melanoma [RCV000059920] Chr1:156057995 [GRCh38]
Chr1:156027786 [GRCh37]
Chr1:154294410 [NCBI36]
Chr1:1q22		 not provided
GRCh38/hg38 1q22(chr1:155834419-156434205)x3 copy number gain See cases [RCV000138885] Chr1:155834419..156434205 [GRCh38]
Chr1:155804210..156403997 [GRCh37]
Chr1:154070834..154670621 [NCBI36]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NC_000001.10:g.(?_155880221)_(156109650_?)del deletion Noonan syndrome 8 [RCV000541808] Chr1:155880221..156109650 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155902781-156210031)x3 copy number gain See cases [RCV000447140] Chr1:155902781..156210031 [GRCh37]
Chr1:1q22		 uncertain significance
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
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 copy number gain not provided [RCV000684659] Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
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
NM_020131.5(UBQLN4):c.893G>A (p.Arg298Gln) single nucleotide variant not provided [RCV000970168] Chr1:156048508 [GRCh38]
Chr1:156018299 [GRCh37]
Chr1:1q22		 benign
NC_000001.10:g.(?_155870169)_(156108907_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV000817926] Chr1:155900378..156139116 [GRCh38]
Chr1:155870169..156108907 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1485A>G (p.Ile495Met) single nucleotide variant not provided [RCV000833624] Chr1:156041653 [GRCh38]
Chr1:156041653..156041654 [GRCh38]
Chr1:156011444 [GRCh37]
Chr1:156011444..156011445 [GRCh37]
Chr1:1q22		 benign
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1		 uncertain significance
GRCh37/hg19 1q22(chr1:155922215-156015659)x4 copy number gain not provided [RCV000847464] Chr1:155922215..156015659 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.407G>A (p.Arg136Gln) single nucleotide variant not specified [RCV004291151] Chr1:156051181 [GRCh38]
Chr1:156020972 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1593C>T (p.Ser531=) single nucleotide variant not provided [RCV000962831] Chr1:156041545 [GRCh38]
Chr1:156011336 [GRCh37]
Chr1:1q22		 benign
NM_020131.5(UBQLN4):c.1251C>T (p.Pro417=) single nucleotide variant not provided [RCV000882746] Chr1:156042789 [GRCh38]
Chr1:156012580 [GRCh37]
Chr1:1q22		 likely benign
NC_000001.10:g.(?_155880221)_(156109650_?)del deletion Noonan syndrome 8 [RCV001300703] Chr1:155880221..156109650 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_020131.5(UBQLN4):c.931G>A (p.Gly311Arg) single nucleotide variant not specified [RCV001733707] Chr1:156044193 [GRCh38]
Chr1:156013984 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV001983077] Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1		 pathogenic
GRCh37/hg19 1q22(chr1:155902781-156210031) copy number gain not specified [RCV002053636] Chr1:155902781..156210031 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155616264-156059947) copy number loss not specified [RCV002053625] Chr1:155616264..156059947 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_155870179)_(156146788_?)dup duplication not provided [RCV001992382] Chr1:155870179..156146788 [GRCh37]
Chr1:1q22		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_020131.5(UBQLN4):c.1131G>T (p.Met377Ile) single nucleotide variant not specified [RCV004298721] Chr1:156042909 [GRCh38]
Chr1:156012700 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.100G>A (p.Val34Ile) single nucleotide variant not specified [RCV004321994] Chr1:156053602 [GRCh38]
Chr1:156023393 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155489474-156196407)x3 copy number gain not provided [RCV002473771] Chr1:155489474..156196407 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1661C>T (p.Thr554Met) single nucleotide variant not specified [RCV004281686] Chr1:156037123 [GRCh38]
Chr1:156006914 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1004C>T (p.Pro335Leu) single nucleotide variant not specified [RCV004163709] Chr1:156044120 [GRCh38]
Chr1:156013911 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1030G>C (p.Gly344Arg) single nucleotide variant not specified [RCV004198981] Chr1:156044094 [GRCh38]
Chr1:156013885 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.68A>G (p.Lys23Arg) single nucleotide variant not specified [RCV004137216] Chr1:156053634 [GRCh38]
Chr1:156023425 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.434C>T (p.Pro145Leu) single nucleotide variant not specified [RCV004275947] Chr1:156051154 [GRCh38]
Chr1:156020945 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1382C>T (p.Thr461Ile) single nucleotide variant not specified [RCV004270429] Chr1:156041956 [GRCh38]
Chr1:156011747 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_020131.5(UBQLN4):c.647G>A (p.Arg216His) single nucleotide variant not specified [RCV004339473] Chr1:156050385 [GRCh38]
Chr1:156020176 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1220G>A (p.Arg407His) single nucleotide variant not specified [RCV004350256] Chr1:156042820 [GRCh38]
Chr1:156012611 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155864518-156213257)x3 copy number gain not provided [RCV003484043] Chr1:155864518..156213257 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1542C>T (p.Pro514=) single nucleotide variant not provided [RCV003409139] Chr1:156041596 [GRCh38]
Chr1:156011387 [GRCh37]
Chr1:1q22		 likely benign
NM_020131.5(UBQLN4):c.522C>T (p.Gly174=) single nucleotide variant not provided [RCV003409140] Chr1:156050510 [GRCh38]
Chr1:156020301 [GRCh37]
Chr1:1q22		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q22(chr1:155902621-156207096)x3 copy number gain not specified [RCV003986329] Chr1:155902621..156207096 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
NM_020131.5(UBQLN4):c.1291G>A (p.Ala431Thr) single nucleotide variant not specified [RCV004477055] Chr1:156042212 [GRCh38]
Chr1:156012003 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1360C>T (p.Pro454Ser) single nucleotide variant not specified [RCV004477056] Chr1:156041978 [GRCh38]
Chr1:156011769 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1490G>A (p.Arg497Gln) single nucleotide variant not specified [RCV004477057] Chr1:156041648 [GRCh38]
Chr1:156011439 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 copy number gain not provided [RCV004577444] Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2		 likely pathogenic
NM_020131.5(UBQLN4):c.953C>T (p.Ser318Phe) single nucleotide variant not specified [RCV004477061] Chr1:156044171 [GRCh38]
Chr1:156013962 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.346G>A (p.Ala116Thr) single nucleotide variant not specified [RCV004477060] Chr1:156051242 [GRCh38]
Chr1:156021033 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1579A>G (p.Thr527Ala) single nucleotide variant not specified [RCV004477059] Chr1:156041559 [GRCh38]
Chr1:156011350 [GRCh37]
Chr1:1q22		 likely benign
NM_020131.5(UBQLN4):c.1559C>T (p.Thr520Met) single nucleotide variant not specified [RCV004477058] Chr1:156041579 [GRCh38]
Chr1:156011370 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.378T>G (p.Ser126Arg) single nucleotide variant not specified [RCV004677870] Chr1:156051210 [GRCh38]
Chr1:156021001 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.449G>A (p.Gly150Glu) single nucleotide variant not specified [RCV004677871] Chr1:156051139 [GRCh38]
Chr1:156020930 [GRCh37]
Chr1:1q22		 uncertain significance
NM_020131.5(UBQLN4):c.1013C>T (p.Pro338Leu) single nucleotide variant not specified [RCV004677869] Chr1:156044111 [GRCh38]
Chr1:156013902 [GRCh37]
Chr1:1q22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1738
Count of miRNA genes:929
Interacting mature miRNAs:1118
Transcripts:ENST00000368309, ENST00000459954, ENST00000472638
Prediction methods: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
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407072304GWAS721280_Hvisceral adipose tissue measurement QTL GWAS721280 (human)2e-11urate measurementblood uric acid level (CMO:0000501)1156049284156049285Human

Markers in Region
RH41451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,702,044 - 148,702,268UniSTSGRCh37
GRCh371156,005,165 - 156,005,389UniSTSGRCh37
Build 361154,271,789 - 154,272,013RGDNCBI36
Celera3147,112,331 - 147,112,555UniSTS
Celera1129,078,128 - 129,078,352RGD
Cytogenetic Map3q24UniSTS
Cytogenetic Map1q21UniSTS
HuRef3146,074,112 - 146,074,336UniSTS
HuRef1127,367,904 - 127,368,128UniSTS
RH12747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,702,049 - 148,702,227UniSTSGRCh37
GRCh371156,005,170 - 156,005,348UniSTSGRCh37
Build 361154,271,794 - 154,271,972RGDNCBI36
Celera3147,112,336 - 147,112,514UniSTS
Celera1129,078,133 - 129,078,311RGD
Cytogenetic Map3q24UniSTS
Cytogenetic Map1q21UniSTS
HuRef3146,074,117 - 146,074,295UniSTS
HuRef1127,367,909 - 127,368,087UniSTS
RH70381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371156,011,476 - 156,011,638UniSTSGRCh37
Build 361154,278,100 - 154,278,262RGDNCBI36
Celera1129,084,438 - 129,084,600RGD
Cytogenetic Map1q21UniSTS
HuRef1127,374,214 - 127,374,376UniSTS
GeneMap99-GB4 RH Map1562.58UniSTS


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 2436 2788 2252 4971 1726 2351 6 624 1951 465 2268 7303 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI074831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY061664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368309   ⟹   ENSP00000357292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,035,299 - 156,053,798 (-)Ensembl
Ensembl Acc Id: ENST00000459954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,041,872 - 156,042,538 (-)Ensembl
Ensembl Acc Id: ENST00000472638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1156,048,502 - 156,053,650 (-)Ensembl
RefSeq Acc Id: NM_001304342   ⟹   NP_001291271
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,035,299 - 156,053,798 (-)NCBI
CHM1_11157,401,165 - 157,419,703 (-)NCBI
T2T-CHM13v2.01155,173,765 - 155,192,264 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020131   ⟹   NP_064516
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,035,299 - 156,053,798 (-)NCBI
GRCh371156,002,945 - 156,023,613 (-)NCBI
Build 361154,271,716 - 154,290,140 (-)NCBI Archive
Celera1129,078,055 - 129,096,477 (-)RGD
HuRef1127,367,831 - 127,386,064 (-)ENTREZGENE
CHM1_11157,401,165 - 157,419,703 (-)NCBI
T2T-CHM13v2.01155,173,765 - 155,192,264 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245348   ⟹   XP_005245405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,042,253 - 156,053,798 (-)NCBI
GRCh371156,002,945 - 156,023,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448469   ⟹   XP_024304237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,031,247 - 156,053,798 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425666   ⟹   XP_047281622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,035,299 - 156,053,798 (-)NCBI
RefSeq Acc Id: XM_054337752   ⟹   XP_054193727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,169,709 - 155,192,264 (-)NCBI
RefSeq Acc Id: XM_054337753   ⟹   XP_054193728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,180,736 - 155,192,264 (-)NCBI
RefSeq Acc Id: XM_054337754   ⟹   XP_054193729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,173,765 - 155,192,264 (-)NCBI
RefSeq Acc Id: XR_007061984
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381156,042,153 - 156,053,798 (-)NCBI
RefSeq Acc Id: XR_008486114
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01155,180,641 - 155,192,264 (-)NCBI
RefSeq Acc Id: NP_064516   ⟸   NM_020131
- Peptide Label: isoform 1
- UniProtKB: Q9BR98 (UniProtKB/Swiss-Prot),   Q5VYA1 (UniProtKB/Swiss-Prot),   Q5VYA0 (UniProtKB/Swiss-Prot),   B2RAY7 (UniProtKB/Swiss-Prot),   A6ND44 (UniProtKB/Swiss-Prot),   Q9UHX4 (UniProtKB/Swiss-Prot),   Q9NRR5 (UniProtKB/Swiss-Prot),   Q59F94 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245405   ⟸   XM_005245348
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001291271   ⟸   NM_001304342
- Peptide Label: isoform 2
- UniProtKB: B4DZF6 (UniProtKB/TrEMBL),   Q59F94 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304237   ⟸   XM_024448469
- Peptide Label: isoform X1
- UniProtKB: Q59F94 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000357292   ⟸   ENST00000368309
RefSeq Acc Id: XP_047281622   ⟸   XM_047425666
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054193727   ⟸   XM_054337752
- Peptide Label: isoform X1
- UniProtKB: Q59F94 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193729   ⟸   XM_054337754
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054193728   ⟸   XM_054337753
- Peptide Label: isoform X2
Protein Domains
STI1   UBA   Ubiquitin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRR5-F1-model_v2 AlphaFold Q9NRR5 1-601 view protein structure

Promoters
RGD ID:6787122
Promoter ID:HG_KWN:5470
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:ENST00000368307,   ENST00000368308,   OTTHUMT00000046193,   OTTHUMT00000046196
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,289,731 - 154,291,087 (-)MPROMDB
RGD ID:6857528
Promoter ID:EPDNEW_H1929
Type:initiation region
Name:UBQLN4_1
Description:ubiquilin 4
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
GRCh381156,053,713 - 156,053,773EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1237 AgrOrtholog
COSMIC UBQLN4 COSMIC
Ensembl Genes ENSG00000160803 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368309 ENTREZGENE
  ENST00000368309.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.260.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA helicase RuvA subunit, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160803 GTEx
HGNC ID HGNC:1237 ENTREZGENE
Human Proteome Map UBQLN4 Human Proteome Map
InterPro STI1_HS-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquilin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_dom UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin_dom UniProtKB/Swiss-Prot
KEGG Report hsa:56893 UniProtKB/Swiss-Prot
NCBI Gene 56893 ENTREZGENE
OMIM 605440 OMIM
PANTHER UBIQUILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUILIN-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ubiquitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25619 PharmGKB
PROSITE UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART STI1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46934 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6ND44 ENTREZGENE
  B2RAY7 ENTREZGENE
  B4DZF6 ENTREZGENE, UniProtKB/TrEMBL
  Q59F94 ENTREZGENE, UniProtKB/TrEMBL
  Q5VYA0 ENTREZGENE
  Q5VYA1 ENTREZGENE
  Q9BR98 ENTREZGENE
  Q9NRR5 ENTREZGENE
  Q9UHX4 ENTREZGENE
  UBQL4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6ND44 UniProtKB/Swiss-Prot
  B2RAY7 UniProtKB/Swiss-Prot
  Q5VYA0 UniProtKB/Swiss-Prot
  Q5VYA1 UniProtKB/Swiss-Prot
  Q9BR98 UniProtKB/Swiss-Prot
  Q9UHX4 UniProtKB/Swiss-Prot