WDSUB1 (WD repeat, sterile alpha motif and U-box domain containing 1) - Rat Genome Database

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Gene: WDSUB1 (WD repeat, sterile alpha motif and U-box domain containing 1) Homo sapiens
Analyze
Symbol: WDSUB1
Name: WD repeat, sterile alpha motif and U-box domain containing 1
RGD ID: 1346298
HGNC Page HGNC:26697
Description: Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in protein ubiquitination.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2610014F08Rik; FLJ36175; UBOX6; WD repeat and SAM domain containing 1; WD repeat, SAM and U-box domain containing 1; WD repeat, SAM and U-box domain-containing protein 1; WDSAM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382159,235,798 - 159,286,703 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2159,235,798 - 159,286,703 (-)EnsemblGRCh38hg38GRCh38
GRCh372160,092,309 - 160,143,214 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362159,800,558 - 159,851,309 (-)NCBINCBI36Build 36hg18NCBI36
Build 342159,917,818 - 159,968,570NCBI
Celera2153,706,784 - 153,757,716 (-)NCBICelera
Cytogenetic Map2q24.2NCBI
HuRef2151,978,632 - 152,029,368 (-)NCBIHuRef
CHM1_12160,098,495 - 160,149,376 (-)NCBICHM1_1
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:11329013   PMID:14702039   PMID:15489334   PMID:15815621   PMID:20979629   PMID:23940030   PMID:34299191   PMID:35256949   PMID:35831314  


Genomics

Comparative Map Data
WDSUB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382159,235,798 - 159,286,703 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2159,235,798 - 159,286,703 (-)EnsemblGRCh38hg38GRCh38
GRCh372160,092,309 - 160,143,214 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362159,800,558 - 159,851,309 (-)NCBINCBI36Build 36hg18NCBI36
Build 342159,917,818 - 159,968,570NCBI
Celera2153,706,784 - 153,757,716 (-)NCBICelera
Cytogenetic Map2q24.2NCBI
HuRef2151,978,632 - 152,029,368 (-)NCBIHuRef
CHM1_12160,098,495 - 160,149,376 (-)NCBICHM1_1
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBIT2T-CHM13v2.0
Wdsub1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39259,682,708 - 59,714,700 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl259,682,708 - 59,712,935 (-)EnsemblGRCm39 Ensembl
GRCm38259,852,364 - 59,882,620 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl259,852,364 - 59,882,591 (-)EnsemblGRCm38mm10GRCm38
MGSCv37259,690,421 - 59,720,663 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36259,653,203 - 59,683,423 (-)NCBIMGSCv36mm8
Celera261,547,996 - 61,578,237 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
cM Map234.14NCBI
Wdsub1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8364,749,118 - 64,781,525 (-)NCBIGRCr8
mRatBN7.2344,340,415 - 44,370,890 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl344,340,415 - 44,370,891 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx347,696,666 - 47,727,022 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0356,280,233 - 56,310,589 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0354,050,349 - 54,080,704 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0345,924,979 - 45,955,455 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl345,925,008 - 45,955,449 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0351,036,799 - 51,073,466 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4341,572,560 - 41,602,917 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1341,468,954 - 41,499,289 (-)NCBI
Celera342,386,424 - 42,415,974 (-)NCBICelera
Cytogenetic Map3q21NCBI
Wdsub1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544914,301,798 - 14,348,735 (+)NCBIChiLan1.0ChiLan1.0
WDSUB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21361,923,297 - 61,974,822 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B61,938,730 - 61,990,233 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B46,523,789 - 46,575,379 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B163,898,555 - 163,949,053 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B163,898,555 - 163,949,053 (-)Ensemblpanpan1.1panPan2
WDSUB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1365,024,832 - 5,073,448 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl365,024,838 - 5,072,660 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha365,163,963 - 5,212,566 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0365,147,634 - 5,196,280 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl365,147,638 - 5,195,807 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1365,165,806 - 5,214,445 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0365,208,453 - 5,257,031 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0365,251,126 - 5,299,744 (-)NCBIUU_Cfam_GSD_1.0
Wdsub1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303122,191,055 - 122,231,300 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646919,386,300 - 19,426,265 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646919,386,431 - 19,427,349 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDSUB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1566,166,450 - 66,239,190 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11566,165,201 - 66,239,203 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
WDSUB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11044,619,307 - 44,671,975 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1044,618,261 - 44,671,900 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040154,893,120 - 154,942,096 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdsub1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247326,372,366 - 6,415,675 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247326,372,413 - 6,415,943 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDSUB1
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Autistic behavior [RCV000627115] Chr2:160075929..164666149 [GRCh37]
Chr2:2q24.2-24.3
likely pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3
pathogenic
GRCh38/hg38 2q24.1-24.2(chr2:158655460-159251819)x3 copy number gain See cases [RCV000141260] Chr2:158655460..159251819 [GRCh38]
Chr2:159511972..160108330 [GRCh37]
Chr2:159220218..159816576 [NCBI36]
Chr2:2q24.1-24.2
likely benign|uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 copy number loss See cases [RCV000142664] Chr2:151932344..159419734 [GRCh38]
Chr2:152788858..160276245 [GRCh37]
Chr2:152497104..159984491 [NCBI36]
Chr2:2q23.3-24.2
pathogenic|likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.2(chr2:160091502-160100051)x1 copy number loss not provided [RCV000753183] Chr2:160091502..160100051 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2q24.2(chr2:160096387-160107187)x1 copy number loss not provided [RCV000753187] Chr2:160096387..160107187 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001128212.3(WDSUB1):c.451G>A (p.Gly151Arg) single nucleotide variant Inborn genetic diseases [RCV003283009] Chr2:159279893 [GRCh38]
Chr2:160136404 [GRCh37]
Chr2:2q24.2
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2q24.2(chr2:160091502-160100055)x0 copy number loss not provided [RCV000753184] Chr2:160091502..160100055 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2q24.2(chr2:160096387-160100055)x0 copy number loss not provided [RCV000753186] Chr2:160096387..160100055 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2q24.2(chr2:160085770-160098542)x3 copy number gain not provided [RCV000753182] Chr2:160085770..160098542 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2q24.2(chr2:160092757-160100055)x1 copy number loss not provided [RCV000753185] Chr2:160092757..160100055 [GRCh37]
Chr2:2q24.2
benign
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_001128212.3(WDSUB1):c.1259C>T (p.Pro420Leu) single nucleotide variant Inborn genetic diseases [RCV003242094] Chr2:159248386 [GRCh38]
Chr2:160104897 [GRCh37]
Chr2:2q24.2
uncertain significance
GRCh37/hg19 2q24.2(chr2:160093668-160259258)x3 copy number gain not provided [RCV002473453] Chr2:160093668..160259258 [GRCh37]
Chr2:2q24.2
uncertain significance
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1 copy number loss Neurodevelopmental disorder [RCV001007687] Chr2:160124451..160219840 [GRCh37]
Chr2:2q24.2
pathogenic
GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1 copy number loss not provided [RCV001005346] Chr2:158925958..162489191 [GRCh37]
Chr2:2q24.1-24.2
pathogenic
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1 copy number loss Neurodevelopmental disorder [RCV001007686] Chr2:160124451..160511552 [GRCh37]
Chr2:2q24.2
pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:160075929-164666149) copy number loss Autistic behavior [RCV001200909] Chr2:160075929..164666149 [GRCh37]
Chr2:2q24.2-24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735) copy number loss not specified [RCV002053256] Chr2:158950827..164456735 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2q24.2(chr2:159844069-161073462) copy number loss BAZ2B-related disorder [RCV003234630] Chr2:159844069..161073462 [GRCh37]
Chr2:2q24.2
pathogenic
NM_001128212.3(WDSUB1):c.200A>T (p.His67Leu) single nucleotide variant Inborn genetic diseases [RCV002883730] Chr2:159282870 [GRCh38]
Chr2:160139381 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.913G>A (p.Val305Met) single nucleotide variant Inborn genetic diseases [RCV002907215] Chr2:159257797 [GRCh38]
Chr2:160114308 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.692A>G (p.Tyr231Cys) single nucleotide variant Inborn genetic diseases [RCV002754241] Chr2:159271780 [GRCh38]
Chr2:160128291 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.956G>C (p.Arg319Thr) single nucleotide variant Inborn genetic diseases [RCV002749594] Chr2:159256372 [GRCh38]
Chr2:160112883 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.41A>G (p.Asp14Gly) single nucleotide variant Inborn genetic diseases [RCV002729480] Chr2:159283029 [GRCh38]
Chr2:160139540 [GRCh37]
Chr2:2q24.2
uncertain significance
GRCh37/hg19 2q24.1-24.2(chr2:159214954-160334904)x3 copy number gain not provided [RCV002475779] Chr2:159214954..160334904 [GRCh37]
Chr2:2q24.1-24.2
uncertain significance
NM_001128212.3(WDSUB1):c.1219G>A (p.Glu407Lys) single nucleotide variant Inborn genetic diseases [RCV002912075] Chr2:159248426 [GRCh38]
Chr2:160104937 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.22T>G (p.Leu8Val) single nucleotide variant Inborn genetic diseases [RCV002784126] Chr2:159283048 [GRCh38]
Chr2:160139559 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.1382G>C (p.Arg461Thr) single nucleotide variant Inborn genetic diseases [RCV002850389] Chr2:159236082 [GRCh38]
Chr2:160092593 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.760C>G (p.Leu254Val) single nucleotide variant Inborn genetic diseases [RCV002954603] Chr2:159271712 [GRCh38]
Chr2:160128223 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.329C>T (p.Thr110Met) single nucleotide variant Inborn genetic diseases [RCV003207104] Chr2:159282741 [GRCh38]
Chr2:160139252 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.1082A>G (p.Lys361Arg) single nucleotide variant Inborn genetic diseases [RCV003198484] Chr2:159256246 [GRCh38]
Chr2:160112757 [GRCh37]
Chr2:2q24.2
likely benign
NM_001128212.3(WDSUB1):c.1420C>T (p.His474Tyr) single nucleotide variant Inborn genetic diseases [RCV003191471] Chr2:159236044 [GRCh38]
Chr2:160092555 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.1403A>G (p.Asn468Ser) single nucleotide variant Inborn genetic diseases [RCV003361090] Chr2:159236061 [GRCh38]
Chr2:160092572 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.275T>G (p.Met92Arg) single nucleotide variant Inborn genetic diseases [RCV003376932] Chr2:159282795 [GRCh38]
Chr2:160139306 [GRCh37]
Chr2:2q24.2
uncertain significance
NM_001128212.3(WDSUB1):c.304G>A (p.Val102Ile) single nucleotide variant Inborn genetic diseases [RCV003367150] Chr2:159282766 [GRCh38]
Chr2:160139277 [GRCh37]
Chr2:2q24.2
uncertain significance
GRCh37/hg19 2q24.1-24.3(chr2:157718631-165360287)x1 copy number loss not specified [RCV003986232] Chr2:157718631..165360287 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:229
Count of miRNA genes:45
Interacting mature miRNAs:46
Transcripts:ENST00000358147, ENST00000359774, ENST00000392796, ENST00000409124, ENST00000409990
Prediction methods:Miranda
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.

Markers in Region
D2S2190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372160,121,707 - 160,121,930UniSTSGRCh37
Build 362159,829,953 - 159,830,176RGDNCBI36
Celera2153,736,177 - 153,736,404RGD
Cytogenetic Map2q24.2UniSTS
HuRef2152,007,918 - 152,008,144UniSTS
Marshfield Genetic Map2164.51RGD
Marshfield Genetic Map2164.51UniSTS
Genethon Genetic Map2170.2UniSTS
deCODE Assembly Map2167.91UniSTS
Stanford-G3 RH Map26543.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21122.5UniSTS
GeneMap99-G3 RH Map27404.0UniSTS
SHGC-150979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372160,121,691 - 160,121,964UniSTSGRCh37
Build 362159,829,937 - 159,830,210RGDNCBI36
Celera2153,736,161 - 153,736,438RGD
Cytogenetic Map2q24.2UniSTS
HuRef2152,007,902 - 152,008,178UniSTS
TNG Radiation Hybrid Map290859.0UniSTS
RH68828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372160,118,486 - 160,118,644UniSTSGRCh37
Build 362159,826,732 - 159,826,890RGDNCBI36
Celera2153,732,956 - 153,733,114RGD
Cytogenetic Map2q24.2UniSTS
HuRef2152,004,697 - 152,004,855UniSTS
GeneMap99-GB4 RH Map2527.52UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 798 1041 1207 168 893 79 1983 268 1424 321 980 1388 99 565 1193 4
Low 1641 1929 518 455 1044 384 2373 1921 2304 98 480 225 72 639 1595 1 2
Below cutoff 18 1 1 13 2 6 6 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001128212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001307994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL040518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG186973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB240898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000358147   ⟹   ENSP00000350866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2159,235,798 - 159,286,703 (-)Ensembl
RefSeq Acc Id: ENST00000359774   ⟹   ENSP00000352820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2159,235,798 - 159,286,703 (-)Ensembl
RefSeq Acc Id: ENST00000392796   ⟹   ENSP00000376545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2159,235,801 - 159,286,552 (-)Ensembl
RefSeq Acc Id: ENST00000409124   ⟹   ENSP00000386891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2159,235,834 - 159,286,669 (-)Ensembl
RefSeq Acc Id: ENST00000409990   ⟹   ENSP00000387078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2159,235,801 - 159,286,592 (-)Ensembl
RefSeq Acc Id: NM_001128212   ⟹   NP_001121684
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
GRCh372160,092,304 - 160,143,304 (-)NCBI
Celera2153,706,784 - 153,757,716 (-)RGD
HuRef2151,978,632 - 152,029,368 (-)RGD
CHM1_12160,098,495 - 160,149,450 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001128213   ⟹   NP_001121685
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
GRCh372160,092,304 - 160,143,304 (-)NCBI
Celera2153,706,784 - 153,757,716 (-)RGD
HuRef2151,978,632 - 152,029,368 (-)RGD
CHM1_12160,098,495 - 160,149,243 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001307994   ⟹   NP_001294923
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
CHM1_12160,098,495 - 160,149,450 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330274   ⟹   NP_001317203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330276   ⟹   NP_001317205
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330277   ⟹   NP_001317206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330278   ⟹   NP_001317207
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330279   ⟹   NP_001317208
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330280   ⟹   NP_001317209
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152528   ⟹   NP_689741
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
GRCh372160,092,304 - 160,143,304 (-)NCBI
Build 362159,800,558 - 159,851,309 (-)NCBI Archive
Celera2153,706,784 - 153,757,716 (-)RGD
HuRef2151,978,632 - 152,029,368 (-)RGD
CHM1_12160,098,495 - 160,149,203 (-)NCBI
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003481   ⟹   XP_016858970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,240,360 - 159,286,703 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443524   ⟹   XP_047299480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443525   ⟹   XP_047299481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443526   ⟹   XP_047299482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443527   ⟹   XP_047299483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443528   ⟹   XP_047299484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443529   ⟹   XP_047299485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443530   ⟹   XP_047299486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,256,196 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_047443531   ⟹   XP_047299487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
RefSeq Acc Id: XM_054340808   ⟹   XP_054196783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340809   ⟹   XP_054196784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,700,157 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340810   ⟹   XP_054196785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340811   ⟹   XP_054196786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340812   ⟹   XP_054196787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340813   ⟹   XP_054196788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340814   ⟹   XP_054196789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340815   ⟹   XP_054196790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,716,084 - 159,746,544 (-)NCBI
RefSeq Acc Id: XM_054340816   ⟹   XP_054196791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
RefSeq Acc Id: XR_001738650
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,235,798 - 159,286,703 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007069663
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,240,360 - 159,286,703 (-)NCBI
RefSeq Acc Id: XR_008486295
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,700,157 - 159,746,544 (-)NCBI
RefSeq Acc Id: XR_008486296
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02159,695,595 - 159,746,544 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001121684 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001294923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317203 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317205 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317206 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317207 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317208 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317209 (Get FASTA)   NCBI Sequence Viewer  
  NP_689741 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858970 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299480 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299481 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299482 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299483 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299484 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299485 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299486 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299487 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196783 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196785 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196787 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196791 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29520 (Get FASTA)   NCBI Sequence Viewer  
  AAX93043 (Get FASTA)   NCBI Sequence Viewer  
  BAC04184 (Get FASTA)   NCBI Sequence Viewer  
  EAX11408 (Get FASTA)   NCBI Sequence Viewer  
  EAX11409 (Get FASTA)   NCBI Sequence Viewer  
  EAX11410 (Get FASTA)   NCBI Sequence Viewer  
  EAX11411 (Get FASTA)   NCBI Sequence Viewer  
  EAX11412 (Get FASTA)   NCBI Sequence Viewer  
  EAX11413 (Get FASTA)   NCBI Sequence Viewer  
  EAX11414 (Get FASTA)   NCBI Sequence Viewer  
  EAX11415 (Get FASTA)   NCBI Sequence Viewer  
  EAX11416 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350866
  ENSP00000350866.4
  ENSP00000352820
  ENSP00000352820.4
  ENSP00000376545
  ENSP00000376545.3
  ENSP00000386891
  ENSP00000386891.1
  ENSP00000387078
  ENSP00000387078.3
GenBank Protein Q8N9V3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001121684   ⟸   NM_001128212
- Peptide Label: isoform 1
- UniProtKB: Q53TI9 (UniProtKB/Swiss-Prot),   Q8N6N8 (UniProtKB/Swiss-Prot),   Q8N9V3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121685   ⟸   NM_001128213
- Peptide Label: isoform 1
- UniProtKB: Q8N9V3 (UniProtKB/Swiss-Prot),   Q53TI9 (UniProtKB/Swiss-Prot),   Q8N6N8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689741   ⟸   NM_152528
- Peptide Label: isoform 1
- UniProtKB: Q53TI9 (UniProtKB/Swiss-Prot),   Q8N6N8 (UniProtKB/Swiss-Prot),   Q8N9V3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001294923   ⟸   NM_001307994
- Peptide Label: isoform 2
- UniProtKB: Q8N9V3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858970   ⟸   XM_017003481
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317208   ⟸   NM_001330279
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001317206   ⟸   NM_001330277
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001317205   ⟸   NM_001330276
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001317209   ⟸   NM_001330280
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001317203   ⟸   NM_001330274
- Peptide Label: isoform 3
- UniProtKB: B8ZZF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317207   ⟸   NM_001330278
- Peptide Label: isoform 1
- UniProtKB: Q8N9V3 (UniProtKB/Swiss-Prot),   Q53TI9 (UniProtKB/Swiss-Prot),   Q8N6N8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000352820   ⟸   ENST00000359774
RefSeq Acc Id: ENSP00000376545   ⟸   ENST00000392796
RefSeq Acc Id: ENSP00000387078   ⟸   ENST00000409990
RefSeq Acc Id: ENSP00000386891   ⟸   ENST00000409124
RefSeq Acc Id: ENSP00000350866   ⟸   ENST00000358147
RefSeq Acc Id: XP_047299487   ⟸   XM_047443531
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047299485   ⟸   XM_047443529
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047299484   ⟸   XM_047443528
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047299482   ⟸   XM_047443526
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047299481   ⟸   XM_047443525
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047299483   ⟸   XM_047443527
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047299480   ⟸   XM_047443524
- Peptide Label: isoform X1
- UniProtKB: B8ZZF2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299486   ⟸   XM_047443530
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054196791   ⟸   XM_054340816
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054196789   ⟸   XM_054340814
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054196788   ⟸   XM_054340813
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054196786   ⟸   XM_054340811
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054196785   ⟸   XM_054340810
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054196787   ⟸   XM_054340812
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054196783   ⟸   XM_054340808
- Peptide Label: isoform X1
- UniProtKB: B8ZZF2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196784   ⟸   XM_054340809
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054196790   ⟸   XM_054340815
- Peptide Label: isoform X8
Protein Domains
SAM   U-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N9V3-F1-model_v2 AlphaFold Q8N9V3 1-476 view protein structure

Promoters
RGD ID:6861824
Promoter ID:EPDNEW_H4076
Type:initiation region
Name:WDSUB1_2
Description:WD repeat, sterile alpha motif and U-box domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4077  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,286,580 - 159,286,640EPDNEW
RGD ID:6861826
Promoter ID:EPDNEW_H4077
Type:initiation region
Name:WDSUB1_1
Description:WD repeat, sterile alpha motif and U-box domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4076  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382159,286,701 - 159,286,761EPDNEW
RGD ID:6798447
Promoter ID:HG_KWN:35562
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_001128213,   NM_152528,   OTTHUMT00000255039,   UC002UAM.2,   UC010FOO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362159,851,426 - 159,851,926 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26697 AgrOrtholog
COSMIC WDSUB1 COSMIC
Ensembl Genes ENSG00000196151 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358147 ENTREZGENE
  ENST00000358147.8 UniProtKB/Swiss-Prot
  ENST00000359774 ENTREZGENE
  ENST00000359774.9 UniProtKB/Swiss-Prot
  ENST00000392796 ENTREZGENE
  ENST00000392796.7 UniProtKB/Swiss-Prot
  ENST00000409124 ENTREZGENE
  ENST00000409124.1 UniProtKB/TrEMBL
  ENST00000409990 ENTREZGENE
  ENST00000409990.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196151 GTEx
HGNC ID HGNC:26697 ENTREZGENE
Human Proteome Map WDSUB1 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubox_domain 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_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:151525 UniProtKB/Swiss-Prot
NCBI Gene 151525 ENTREZGENE
PANTHER WD REPEAT, SAM AND U-BOX DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  WD REPEAT, SAM AND U-BOX DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  WD REPEAT, SAM AND U-BOX DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  WD REPEAT, SAM AND U-BOX DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
Pfam SAM_1 UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot
  U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394761 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U_BOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot
  Ubox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B8ZZF2 ENTREZGENE, UniProtKB/TrEMBL
  Q53TI9 ENTREZGENE
  Q8N6N8 ENTREZGENE
  Q8N9V3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q53TI9 UniProtKB/Swiss-Prot
  Q8N6N8 UniProtKB/Swiss-Prot