UBE4A (ubiquitination factor E4A) - Rat Genome Database

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Gene: UBE4A (ubiquitination factor E4A) Homo sapiens
Analyze
Symbol: UBE4A
Name: ubiquitination factor E4A
RGD ID: 1351066
HGNC Page HGNC:12499
Description: Predicted to enable ubiquitin-ubiquitin ligase activity. Predicted to be involved in protein polyubiquitination and ubiquitin-dependent ERAD pathway. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E4; homologous to yeast UFD2; KIAA0126; MGC133315; NEDHMS; RING-type E3 ubiquitin transferase E4 A; ubiquitin conjugation factor E4 A; ubiquitination factor E4A (homologous to yeast UFD2); ubiquitination factor E4A (UFD2 homolog, yeast); UBOX2; UFD2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100532749  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,359,600 - 118,399,211 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11118,359,600 - 118,399,211 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,230,315 - 118,269,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,735,512 - 117,775,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,735,511 - 117,775,134NCBI
Celera11115,388,170 - 115,427,789 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,164,298 - 114,204,054 (+)NCBIHuRef
CHM1_111118,116,796 - 118,156,382 (+)NCBICHM1_1
T2T-CHM13v2.011118,375,859 - 118,415,462 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
nucleus  (IBA)
ubiquitin ligase complex  (IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7829101   PMID:8590280   PMID:10089879   PMID:11802788   PMID:12477932   PMID:12665801   PMID:15019985   PMID:15189447   PMID:15489334   PMID:15611659   PMID:16344560   PMID:17353931  
PMID:17553343   PMID:18069675   PMID:19322201   PMID:19690564   PMID:21282530   PMID:21873635   PMID:21897333   PMID:21903422   PMID:22119785   PMID:24457997   PMID:25609649   PMID:25921289  
PMID:26186194   PMID:26389662   PMID:27862841   PMID:28514442   PMID:28712289   PMID:28861931   PMID:28963376   PMID:29180619   PMID:29395067   PMID:29499138   PMID:29507755   PMID:29509190  
PMID:29540532   PMID:29549164   PMID:29568061   PMID:30021884   PMID:30663414   PMID:30833792   PMID:30948266   PMID:31056421   PMID:31253590   PMID:31732153   PMID:31812350   PMID:31932471  
PMID:31950832   PMID:31980649   PMID:32296183   PMID:32423001   PMID:32694731   PMID:32877691   PMID:33277362   PMID:33420346   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35136024  
PMID:35241646   PMID:35271311   PMID:35831314  


Genomics

Comparative Map Data
UBE4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,359,600 - 118,399,211 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11118,359,600 - 118,399,211 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,230,315 - 118,269,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,735,512 - 117,775,136 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,735,511 - 117,775,134NCBI
Celera11115,388,170 - 115,427,789 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,164,298 - 114,204,054 (+)NCBIHuRef
CHM1_111118,116,796 - 118,156,382 (+)NCBICHM1_1
T2T-CHM13v2.011118,375,859 - 118,415,462 (+)NCBIT2T-CHM13v2.0
Ube4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,834,425 - 44,877,021 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,834,425 - 44,876,898 (-)EnsemblGRCm39 Ensembl
GRCm38944,923,127 - 44,965,615 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,923,127 - 44,965,600 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,731,210 - 44,773,683 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,684,066 - 44,716,520 (-)NCBIMGSCv36mm8
Celera942,188,425 - 42,230,712 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
Ube4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2845,236,022 - 45,278,129 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,236,026 - 45,278,038 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,731,379 - 50,773,216 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0849,010,100 - 49,051,937 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0846,880,680 - 46,922,496 (-)NCBIRnor_WKY
Rnor_6.0849,229,713 - 49,271,894 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,229,717 - 49,271,834 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,847,865 - 47,889,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,879,266 - 47,918,955 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,888,031 - 47,927,727 (-)NCBI
Celera844,820,845 - 44,860,533 (-)NCBICelera
Cytogenetic Map8q22NCBI
Ube4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,516,691 - 19,553,773 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,517,182 - 19,551,503 (+)NCBIChiLan1.0ChiLan1.0
UBE4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,125,582 - 117,162,518 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,131,100 - 117,162,385 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,193,986 - 113,233,660 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
UBE4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,338,279 - 15,375,722 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,341,141 - 15,370,294 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,389,033 - 15,426,486 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,280,409 - 15,318,046 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,280,447 - 15,317,969 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,418,864 - 15,456,318 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,322,601 - 15,359,769 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,363,227 - 15,400,919 (-)NCBIUU_Cfam_GSD_1.0
UBE4A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,661,106 - 45,704,810 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,661,090 - 45,701,911 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,702,219 - 50,743,041 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBE4A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,735,778 - 109,776,629 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,735,752 - 109,776,661 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,258,929 - 16,299,903 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ube4a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478413,754,234 - 13,792,616 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBE4A
5 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2025
Count of miRNA genes:703
Interacting mature miRNAs:793
Transcripts:ENST00000252108, ENST00000431736, ENST00000545354
Prediction methods: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.

Markers in Region
STS-AA019500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,269,670 - 118,269,893UniSTSGRCh37
Build 3611117,774,880 - 117,775,103RGDNCBI36
Celera11115,427,533 - 115,427,756RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,203,798 - 114,204,021UniSTS
GeneMap99-GB4 RH Map11377.12UniSTS
SHGC-87656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,268,065 - 118,268,251UniSTSGRCh37
GRCh373111,966,503 - 111,966,685UniSTSGRCh37
Build 363113,449,193 - 113,449,375RGDNCBI36
Celera3110,375,338 - 110,375,512RGD
Celera11115,425,928 - 115,426,114UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map3q13.2UniSTS
HuRef11114,202,193 - 114,202,379UniSTS
HuRef3109,350,562 - 109,350,736UniSTS
TNG Radiation Hybrid Map1154670.0UniSTS
RH92387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,270,042 - 118,270,161UniSTSGRCh37
Build 3611117,775,252 - 117,775,371RGDNCBI36
Celera11115,427,905 - 115,428,024RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,204,170 - 114,204,289UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
RH25349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,268,777 - 118,268,951UniSTSGRCh37
Build 3611117,773,987 - 117,774,161RGDNCBI36
Celera11115,426,640 - 115,426,814RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,202,905 - 114,203,079UniSTS
RH122609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,258,241 - 118,258,512UniSTSGRCh37
Build 3611117,763,451 - 117,763,722RGDNCBI36
Celera11115,416,104 - 115,416,375RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,192,369 - 114,192,640UniSTS
TNG Radiation Hybrid Map1154625.0UniSTS
RH119002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,245,351 - 118,245,647UniSTSGRCh37
Build 3611117,750,561 - 117,750,857RGDNCBI36
Celera11115,403,214 - 115,403,510RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,179,353 - 114,179,649UniSTS
TNG Radiation Hybrid Map1154617.0UniSTS
D11S1374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,250,797 - 118,250,989UniSTSGRCh37
Build 3611117,756,007 - 117,756,199RGDNCBI36
Celera11115,408,660 - 115,408,852RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,184,923 - 114,185,117UniSTS
D11S1933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,253,656 - 118,253,780UniSTSGRCh37
Build 3611117,758,866 - 117,758,990RGDNCBI36
Celera11115,411,519 - 115,411,643RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,187,784 - 114,187,908UniSTS
D11S3222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,266,638 - 118,266,942UniSTSGRCh37
Build 3611117,771,848 - 117,772,152RGDNCBI36
Celera11115,424,501 - 115,424,805RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,200,766 - 114,201,070UniSTS
SHGC-143993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,241,952 - 118,242,239UniSTSGRCh37
Build 3611117,747,162 - 117,747,449RGDNCBI36
Celera11115,399,815 - 115,400,102RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,175,955 - 114,176,242UniSTS
TNG Radiation Hybrid Map1154613.0UniSTS
PMC155158P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,268,920 - 118,269,002UniSTSGRCh37
Build 3611117,774,130 - 117,774,212RGDNCBI36
Celera11115,426,783 - 115,426,865RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,203,048 - 114,203,130UniSTS
NIB1965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,269,680 - 118,269,876UniSTSGRCh37
GRCh373111,964,862 - 111,965,065UniSTSGRCh37
Build 363113,447,552 - 113,447,755RGDNCBI36
Celera3110,373,697 - 110,373,900RGD
Celera11115,427,543 - 115,427,739UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map3q13.2UniSTS
HuRef11114,203,808 - 114,204,004UniSTS
HuRef3109,348,921 - 109,349,124UniSTS
Whitehead-YAC Contig Map11 UniSTS
STS-Z41133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,269,817 - 118,269,874UniSTSGRCh37
Build 3611117,775,027 - 117,775,084RGDNCBI36
Celera11115,427,680 - 115,427,737RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,203,945 - 114,204,002UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
RH18212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,239,362 - 118,240,162UniSTSGRCh37
Celera11115,397,225 - 115,398,025UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11114,173,365 - 114,174,165UniSTS


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 2080 1811 1289 355 1325 206 4006 1446 1893 252 1306 1544 165 1 1157 2487 6 2
Low 359 1178 437 269 625 259 351 750 1840 167 154 69 10 47 301
Below cutoff 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF087968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW021567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW290969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB068702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252108   ⟹   ENSP00000252108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,359,600 - 118,399,211 (+)Ensembl
RefSeq Acc Id: ENST00000431736   ⟹   ENSP00000387362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,359,644 - 118,399,207 (+)Ensembl
RefSeq Acc Id: ENST00000545354   ⟹   ENSP00000438918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11118,378,501 - 118,396,507 (+)Ensembl
RefSeq Acc Id: NM_001204077   ⟹   NP_001191006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,359,600 - 118,399,211 (+)NCBI
GRCh3711118,230,296 - 118,269,926 (+)ENTREZGENE
HuRef11114,164,298 - 114,204,054 (+)ENTREZGENE
CHM1_111118,116,796 - 118,156,382 (+)NCBI
T2T-CHM13v2.011118,375,859 - 118,415,462 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004788   ⟹   NP_004779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,359,600 - 118,399,211 (+)NCBI
GRCh3711118,230,296 - 118,269,926 (+)ENTREZGENE
Build 3611117,735,512 - 117,775,136 (+)NCBI Archive
Celera11115,388,170 - 115,427,789 (+)RGD
HuRef11114,164,298 - 114,204,054 (+)ENTREZGENE
CHM1_111118,116,796 - 118,156,382 (+)NCBI
T2T-CHM13v2.011118,375,859 - 118,415,462 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004779   ⟸   NM_004788
- Peptide Label: isoform 1
- UniProtKB: Q14139 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001191006   ⟸   NM_001204077
- Peptide Label: isoform 2
- UniProtKB: Q7Z639 (UniProtKB/Swiss-Prot),   Q14139 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252108   ⟸   ENST00000252108
RefSeq Acc Id: ENSP00000438918   ⟸   ENST00000545354
RefSeq Acc Id: ENSP00000387362   ⟸   ENST00000431736
Protein Domains
U-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14139-F1-model_v2 AlphaFold Q14139 1-1066 view protein structure

Promoters
RGD ID:6789500
Promoter ID:HG_KWN:14317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004788,   UC001PSW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,735,269 - 117,735,769 (+)MPROMDB
RGD ID:7222301
Promoter ID:EPDNEW_H16896
Type:initiation region
Name:UBE4A_1
Description:ubiquitination factor E4A
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
GRCh3811118,359,634 - 118,359,694EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
NM_004788.3(UBE4A):c.2433+3delA deletion not specified [RCV000202846] Chr11:118384948 [GRCh38]
Chr11:118255663 [GRCh37]
Chr11:11q23.3
benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001204077.2(UBE4A):c.2412+23del deletion not specified [RCV000454762] Chr11:118384948 [GRCh38]
Chr11:118255663 [GRCh37]
Chr11:11q23.3
benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR deletion Epilepsy [RCV000768408]|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY [RCV001787106] Chr11:118374964..118374965 [GRCh38]
Chr11:118245679..118245680 [GRCh37]
Chr11:11q23.3
pathogenic|likely pathogenic
NM_001204077.2(UBE4A):c.2835A>G (p.Ala945=) single nucleotide variant not provided [RCV000901158] Chr11:118390723 [GRCh38]
Chr11:118261438 [GRCh37]
Chr11:11q23.3
benign
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001204077.2(UBE4A):c.1217_1218del (p.Cys406fs) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR deletion NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY [RCV001787127]|not specified [RCV001254871] Chr11:118374995..118374996 [GRCh38]
Chr11:118245710..118245711 [GRCh37]
Chr11:11q23.3
pathogenic|uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY [RCV001787244] Chr11:118369511 [GRCh38]
Chr11:118240226 [GRCh37]
Chr11:11q23.3
pathogenic
NM_001204077.2(UBE4A):c.631C>T (p.Arg211Ter) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY [RCV001787245] Chr11:118372576 [GRCh38]
Chr11:118243291 [GRCh37]
Chr11:11q23.3
pathogenic
NM_001204077.2(UBE4A):c.992del (p.Gly331fs) deletion UBE4A related disorder [RCV001808204] Chr11:118373559 [GRCh38]
Chr11:118244274 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication Glucose-6-phosphate transport defect [RCV001940046] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-CDG [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12499 AgrOrtholog
COSMIC UBE4A COSMIC
Ensembl Genes ENSG00000110344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252108 ENTREZGENE
  ENSP00000252108.4 UniProtKB/Swiss-Prot
  ENSP00000387362 ENTREZGENE
  ENSP00000387362.2 UniProtKB/Swiss-Prot
  ENSP00000438918.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252108 ENTREZGENE
  ENST00000252108.8 UniProtKB/Swiss-Prot
  ENST00000431736 ENTREZGENE
  ENST00000431736.6 UniProtKB/Swiss-Prot
  ENST00000545354.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110344 GTEx
HGNC ID HGNC:12499 ENTREZGENE
Human Proteome Map UBE4A Human Proteome Map
InterPro Ub_conjug_fac_E4_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBE4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubox_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9354 UniProtKB/Swiss-Prot
NCBI Gene 9354 ENTREZGENE
OMIM 603753 OMIM
  619639 OMIM
PANTHER PTHR13931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ufd2P_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37147 PharmGKB
PROSITE U_BOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ubox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z7P0_HUMAN UniProtKB/TrEMBL
  L8E7Q1_HUMAN UniProtKB/TrEMBL
  Q05BZ7_HUMAN UniProtKB/TrEMBL
  Q14139 ENTREZGENE
  Q7Z639 ENTREZGENE
  UBE4A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B0YJB6 UniProtKB/Swiss-Prot
  Q2M1H0 UniProtKB/Swiss-Prot
  Q6P5T4 UniProtKB/Swiss-Prot
  Q7Z639 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 UBE4A  ubiquitination factor E4A  UBE4A  ubiquitination factor E4A  Symbol and/or name change 5135510 APPROVED
2011-07-27 UBE4A  ubiquitination factor E4A  UBE4A  ubiquitination factor E4A (UFD2 homolog, yeast)  Symbol and/or name change 5135510 APPROVED