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UBE2T ubiquitin conjugating enzyme E2 T [ Homo sapiens (human) ]

Gene ID: 29089, updated on 24-Nov-2020

Summary

Official Symbol
UBE2Tprovided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 Tprovided by HGNC
Primary source
HGNC:HGNC:25009
See related
Ensembl:ENSG00000077152 MIM:610538
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FANCT; PIG50; HSPC150
Summary
The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Expression
Broad expression in testis (RPKM 10.4), bone marrow (RPKM 10.2) and 22 other tissues See more
Orthologs

Genomic context

See UBE2T in Genome Data Viewer
Location:
1q32.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (202331657..202341936, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202300785..202311094, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase receptor type V, pseudogene Neighboring gene uncharacterized LOC101929388 Neighboring gene leucine rich repeat containing G protein-coupled receptor 6 Neighboring gene protein phosphatase 1 regulatory subunit 12B Neighboring gene CYCS pseudogene 4 Neighboring gene RNA, U6 small nuclear 89, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Fanconi anemia, complementation group T
MedGen: C4084840 OMIM: 616435 GeneReviews: Fanconi Anemia
Compare labs
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin conjugating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
protein K11-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K27-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K29-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
ubiquitin-conjugating enzyme E2 T
Names
E2 ubiquitin-conjugating enzyme T
HSPC150 protein similar to ubiquitin-conjugating enzyme
cell proliferation-inducing gene 50 protein
ubiquitin carrier protein T
ubiquitin conjugating enzyme E2T
ubiquitin-conjugating enzyme E2T (putative)
ubiquitin-protein ligase T
NP_001297255.1
NP_054895.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042230.1 RefSeqGene

    Range
    5031..15310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1169

mRNA and Protein(s)

  1. NM_001310326.2NP_001297255.1  ubiquitin-conjugating enzyme E2 T isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in a 5' exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF161499, BM460257, BP244265
    UniProtKB/Swiss-Prot
    Q9NPD8
    Conserved Domains (2) summary
    COG5078
    Location:6121
    COG5078; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    cd00195
    Location:6117
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
  2. NM_014176.4NP_054895.1  ubiquitin-conjugating enzyme E2 T isoform 1

    See identical proteins and their annotated locations for NP_054895.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK000504, BG776416
    Consensus CDS
    CCDS1425.1
    UniProtKB/Swiss-Prot
    Q9NPD8
    UniProtKB/TrEMBL
    A0A024R9A9
    Related
    ENSP00000494957.1, ENST00000646651.1
    Conserved Domains (1) summary
    cd00195
    Location:5147
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    202331657..202341936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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