Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 29089, updated on 26-Sep-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UBE2T in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (202331657..202341936, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202300785..202311064, 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
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin conjugating enzyme activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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 109.20210514

    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)
    Support Center