UGT3A1 (UDP glycosyltransferase family 3 member A1) - Rat Genome Database

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Gene: UGT3A1 (UDP glycosyltransferase family 3 member A1) Homo sapiens
Analyze
Symbol: UGT3A1
Name: UDP glycosyltransferase family 3 member A1
RGD ID: 1601933
HGNC Page HGNC
Description: Enables glucuronosyltransferase activity. Part of UDP-N-acetylglucosamine transferase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ26528; FLJ34658; UDP glycosyltransferase 3 family, polypeptide A1; UDP-glucuronosyltransferase 3A1; UDPGT 3A1
RGD Orthologs
Mouse
Rat
Bonobo
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
GRCh38.p13 Ensembl535,951,006 - 36,001,028 (-)EnsemblGRCh38hg38GRCh38
GRCh38535,951,006 - 36,001,055 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37535,951,108 - 36,001,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36535,988,967 - 36,027,256 (-)NCBINCBI36hg18NCBI36
Celera535,838,879 - 35,886,819 (-)NCBI
Cytogenetic Map5p13.2NCBI
HuRef535,903,464 - 35,951,406 (-)NCBIHuRef
CHM1_1535,955,886 - 36,003,836 (-)NCBICHM1_1
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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:18981171   PMID:19814657   PMID:20379614   PMID:20800603   PMID:21873635   PMID:22621930   PMID:24816252   PMID:26186194   PMID:31836608   PMID:33961781  


Genomics

Comparative Map Data
UGT3A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl535,951,006 - 36,001,028 (-)EnsemblGRCh38hg38GRCh38
GRCh38535,951,006 - 36,001,055 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37535,951,108 - 36,001,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36535,988,967 - 36,027,256 (-)NCBINCBI36hg18NCBI36
Celera535,838,879 - 35,886,819 (-)NCBI
Cytogenetic Map5p13.2NCBI
HuRef535,903,464 - 35,951,406 (-)NCBIHuRef
CHM1_1535,955,886 - 36,003,836 (-)NCBICHM1_1
Ugt3a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,335,637 - 9,371,041 (+)NCBIGRCm39mm39
GRCm39 Ensembl159,335,636 - 9,371,041 (+)Ensembl
GRCm38159,335,551 - 9,370,955 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,335,550 - 9,370,955 (+)EnsemblGRCm38mm10GRCm38
MGSCv37159,265,353 - 9,300,625 (+)NCBIGRCm37mm9NCBIm37
MGSCv36159,267,771 - 9,315,584 (+)NCBImm8
Celera159,136,088 - 9,171,085 (+)NCBICelera
Cytogenetic Map15A1NCBI
Ugt3a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2258,327,058 - 58,350,186 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl258,334,603 - 58,350,186 (+)Ensembl
Rnor_6.0258,666,337 - 58,682,212 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl258,668,157 - 58,681,747 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0277,756,134 - 77,775,205 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4258,955,159 - 58,997,290 (+)NCBIRGSC3.4rn4RGSC3.4
Celera253,936,376 - 53,959,955 (+)NCBICelera
Cytogenetic Map2q16NCBI
UGT3A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1579,653,148 - 79,696,582 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0574,372,175 - 74,415,724 (+)NCBIMhudiblu_PPA_v0panPan3
UGT3A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1434,799,857 - 34,841,195 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl434,795,751 - 34,839,803 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607125,120,691 - 25,161,211 (-)NCBIVero_WHO_p1.0
Ugt3a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475918,972,089 - 18,991,063 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D5S2025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,972,580 - 35,972,787UniSTSGRCh37
GRCh37535,972,672 - 35,972,797UniSTSGRCh37
Build 36536,008,337 - 36,008,544RGDNCBI36
Celera535,858,268 - 35,858,475RGD
Celera535,858,360 - 35,858,485UniSTS
Cytogenetic Map5p13.2UniSTS
HuRef535,922,853 - 35,923,060UniSTS
HuRef535,922,945 - 35,923,070UniSTS
Marshfield Genetic Map552.55RGD
Genethon Genetic Map552.2UniSTS
deCODE Assembly Map557.75UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X81,533,655 - 81,533,746UniSTSGRCh37
GRCh37535,994,321 - 35,994,420UniSTSGRCh37
GRCh37535,994,330 - 35,994,507UniSTSGRCh37
GRCh37535,994,389 - 35,994,510UniSTSGRCh37
Build 36536,030,087 - 36,030,264RGDNCBI36
CeleraX81,770,867 - 81,770,958UniSTS
Celera535,880,078 - 35,880,199UniSTS
Celera535,880,019 - 35,880,196RGD
Celera535,880,010 - 35,880,109UniSTS
Cytogenetic Map5p13.2UniSTS
HuRef535,944,593 - 35,944,692UniSTS
HuRefX75,106,048 - 75,106,139UniSTS
HuRef535,944,661 - 35,944,786UniSTS
HuRef535,944,602 - 35,944,783UniSTS
Marshfield Genetic Map552.55RGD
Genethon Genetic Map551.5UniSTS
TNG Radiation Hybrid Map517387.0UniSTS
deCODE Assembly Map557.75UniSTS
Stanford-G3 RH Map51396.0UniSTS
Whitehead-RH Map5135.8UniSTS
Whitehead-YAC Contig Map5 UniSTS
GeneMap99-G3 RH Map51391.0UniSTS
RH102317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,965,666 - 35,965,795UniSTSGRCh37
Build 36536,001,423 - 36,001,552RGDNCBI36
Celera535,851,354 - 35,851,483RGD
Cytogenetic Map5p13.2UniSTS
HuRef535,915,939 - 35,916,068UniSTS
GeneMap99-GB4 RH Map5127.13UniSTS
RH118739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,955,772 - 35,956,086UniSTSGRCh37
Build 36535,991,529 - 35,991,843RGDNCBI36
Celera535,841,460 - 35,841,774RGD
Cytogenetic Map5p13.2UniSTS
HuRef535,906,045 - 35,906,359UniSTS
TNG Radiation Hybrid Map517187.0UniSTS
G63682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37535,959,198 - 35,959,470UniSTSGRCh37
Build 36535,994,955 - 35,995,227RGDNCBI36
Celera535,844,886 - 35,845,158RGD
Cytogenetic Map5p13.2UniSTS
HuRef535,909,471 - 35,909,743UniSTS
TNG Radiation Hybrid Map517192.0UniSTS
D5S455  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
Marshfield Genetic Map552.55UniSTS
Genethon Genetic Map551.5UniSTS
deCODE Assembly Map557.75UniSTS
Whitehead-RH Map5135.8UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S455  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
TNG Radiation Hybrid Map517387.0UniSTS
Stanford-G3 RH Map51396.0UniSTS
GeneMap99-G3 RH Map51391.0UniSTS
D5S2025  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p13.2UniSTS
Marshfield Genetic Map552.55UniSTS
Genethon Genetic Map552.2UniSTS
deCODE Assembly Map557.75UniSTS
Whitehead-YAC Contig Map5 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4801
Count of miRNA genes:1290
Interacting mature miRNAs:1634
Transcripts:ENST00000274278, ENST00000333811, ENST00000503189, ENST00000507113, ENST00000513233, ENST00000515801
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 adipose tissue appendage entire extraembryonic component
High
Medium 4 145 145 145 2 2 138 221 6 2
Low 52 4 330 257 54 252 792 621 81 117 203 28 6 609
Below cutoff 784 778 548 90 503 22 1733 539 1168 35 374 466 69 294 1046 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001171873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI244517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274278   ⟹   ENSP00000274278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,951,006 - 35,991,390 (-)Ensembl
RefSeq Acc Id: ENST00000333811   ⟹   ENSP00000328033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,962,874 - 35,991,433 (-)Ensembl
RefSeq Acc Id: ENST00000503189   ⟹   ENSP00000427079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,955,195 - 35,991,397 (-)Ensembl
RefSeq Acc Id: ENST00000507113   ⟹   ENSP00000426100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,955,381 - 35,991,433 (-)Ensembl
RefSeq Acc Id: ENST00000513233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,955,729 - 35,991,334 (-)Ensembl
RefSeq Acc Id: ENST00000515801   ⟹   ENSP00000427630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,953,108 - 35,991,605 (-)Ensembl
RefSeq Acc Id: ENST00000625798   ⟹   ENSP00000487376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl535,960,756 - 36,001,028 (-)Ensembl
RefSeq Acc Id: NM_001171873   ⟹   NP_001165344
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,960,756 - 36,001,022 (-)NCBI
GRCh37535,953,191 - 36,066,639 (-)NCBI
Celera535,838,879 - 35,886,819 (-)RGD
HuRef535,903,464 - 35,951,406 (-)RGD
CHM1_1535,963,556 - 36,003,836 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152404   ⟹   NP_689617
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,951,006 - 35,991,390 (-)NCBI
GRCh37535,953,191 - 36,066,639 (-)NCBI
Build 36535,988,967 - 36,027,256 (-)NCBI Archive
Celera535,838,879 - 35,886,819 (-)RGD
HuRef535,903,464 - 35,951,406 (-)RGD
CHM1_1535,955,886 - 35,994,247 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248243   ⟹   XP_005248300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,953,089 - 35,991,207 (-)NCBI
GRCh37535,953,191 - 36,066,639 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513957   ⟹   XP_011512259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,953,089 - 36,000,999 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513958   ⟹   XP_011512260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,953,089 - 35,991,621 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513959   ⟹   XP_011512261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,953,089 - 36,001,055 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001741997
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,954,387 - 35,991,397 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001741998
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38535,954,387 - 35,991,621 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689617   ⟸   NM_152404
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6NUS8 (UniProtKB/Swiss-Prot),   A8K444 (UniProtKB/TrEMBL),   B7Z3N0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165344   ⟸   NM_001171873
- Peptide Label: isoform 2
- UniProtKB: Q6NUS8 (UniProtKB/Swiss-Prot),   A0A024R085 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248300   ⟸   XM_005248243
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512261   ⟸   XM_011513959
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512259   ⟸   XM_011513957
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512260   ⟸   XM_011513958
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000427079   ⟸   ENST00000503189
RefSeq Acc Id: ENSP00000328033   ⟸   ENST00000333811
RefSeq Acc Id: ENSP00000487376   ⟸   ENST00000625798
RefSeq Acc Id: ENSP00000426100   ⟸   ENST00000507113
RefSeq Acc Id: ENSP00000274278   ⟸   ENST00000274278
RefSeq Acc Id: ENSP00000427630   ⟸   ENST00000515801
Protein Domains
UDPGT

Promoters
RGD ID:6869386
Promoter ID:EPDNEW_H7858
Type:initiation region
Name:UGT3A1_1
Description:UDP glycosyltransferase family 3 member A1
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
GRCh38535,991,334 - 35,991,394EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12
pathogenic
NM_001171873.1(UGT3A1):c.415G>A (p.Asp139Asn) single nucleotide variant Malignant melanoma [RCV000066909] Chr5:35965652 [GRCh38]
Chr5:35965754 [GRCh37]
Chr5:36001511 [NCBI36]
Chr5:5p13.2
not provided
NM_001171873.1(UGT3A1):c.256G>A (p.Asp86Asn) single nucleotide variant Malignant melanoma [RCV000066910] Chr5:35965811 [GRCh38]
Chr5:35965913 [GRCh37]
Chr5:36001670 [NCBI36]
Chr5:5p13.2
not provided
NM_001171873.1(UGT3A1):c.682-947T>A single nucleotide variant Lung cancer [RCV000095897] Chr5:35963898 [GRCh38]
Chr5:35964000 [GRCh37]
Chr5:5p13.2
uncertain significance
NM_001171873.1(UGT3A1):c.35-2372G>T single nucleotide variant Lung cancer [RCV000095898] Chr5:35970505 [GRCh38]
Chr5:35970607 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1 copy number loss See cases [RCV000135667] Chr5:30961310..36143306 [GRCh38]
Chr5:30961417..36143408 [GRCh37]
Chr5:30997174..36179165 [NCBI36]
Chr5:5p13.3-13.2
likely pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12
pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5p13.2(chr5:35382352-36123330)x3 copy number gain not provided [RCV001005670] Chr5:35382352..36123330 [GRCh37]
Chr5:5p13.2
uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11
pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26625 AgrOrtholog
COSMIC UGT3A1 COSMIC
Ensembl Genes ENSG00000145626 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000274278 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000328033 UniProtKB/Swiss-Prot
  ENSP00000426100 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000427079 UniProtKB/TrEMBL
  ENSP00000427630 UniProtKB/TrEMBL
  ENSP00000487376 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274278 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000333811 UniProtKB/Swiss-Prot
  ENST00000503189 UniProtKB/TrEMBL
  ENST00000507113 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000515801 UniProtKB/TrEMBL
  ENST00000625798 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000145626 GTEx
HGNC ID HGNC:26625 ENTREZGENE
Human Proteome Map UGT3A1 Human Proteome Map
InterPro UDP_glucos_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UDP_glycos_trans_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:133688 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 133688 ENTREZGENE
OMIM 616383 OMIM
Pfam UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670642 PharmGKB
PROSITE UDPGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R085 ENTREZGENE, UniProtKB/TrEMBL
  A8K444 ENTREZGENE, UniProtKB/TrEMBL
  B7Z3N0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8Q8_HUMAN UniProtKB/TrEMBL
  D6RHV6_HUMAN UniProtKB/TrEMBL
  E9PD17_HUMAN UniProtKB/TrEMBL
  Q6NUS8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary G5E961 UniProtKB/Swiss-Prot
  Q8IYS9 UniProtKB/Swiss-Prot
  Q8NAW4 UniProtKB/Swiss-Prot
  Q96DM6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 UGT3A1  UDP glycosyltransferase family 3 member A1    UDP glycosyltransferase 3 family, polypeptide A1  Symbol and/or name change 5135510 APPROVED