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UBE2D1 ubiquitin conjugating enzyme E2 D1 [ Homo sapiens (human) ]

Gene ID: 7321, updated on 13-Jan-2019

Summary

Official Symbol
UBE2D1provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 D1provided by HGNC
Primary source
HGNC:HGNC:12474
See related
Ensembl:ENSG00000072401 MIM:602961
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
SFT; UBCH5; UBC4/5; UBCH5A; E2(17)KB1
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in bone marrow (RPKM 16.4), appendix (RPKM 13.7) and 25 other tissues See more
Orthologs

Genomic context

See UBE2D1 in Genome Data Viewer
Location:
10q21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (58334979..58370753)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60094739..60130513)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate multikinase Neighboring gene tumor protein, translationally-controlled 1 pseudogene 10 Neighboring gene CDGSH iron sulfur domain 1 Neighboring gene uncharacterized LOC112268068 Neighboring gene Sharpr-MPRA regulatory region 7957 Neighboring gene transcription factor A, mitochondrial Neighboring gene uncharacterized LOC105378316

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Ubiquitination of HIV-1 Tat by Hdm2 requires ubiquitin-conjugating enzyme E2D 1 (UbcH5) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of protein polyubiquitination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ubiquitin-conjugating enzyme E2 D1
Names
(E3-independent) E2 ubiquitin-conjugating enzyme D1
E2 ubiquitin-conjugating enzyme D1
UBC4/5 homolog
stimulator of Fe transport
ubiquitin carrier protein D1
ubiquitin conjugating enzyme E2D 1
ubiquitin-conjugating enzyme E2(17)KB 1
ubiquitin-conjugating enzyme E2-17 kDa 1
ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)
ubiquitin-protein ligase D1
NP_001191809.1
NP_003329.1

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.

mRNA and Protein(s)

  1. NM_001204880.1NP_001191809.1  ubiquitin-conjugating enzyme E2 D1 isoform 2

    See identical proteins and their annotated locations for NP_001191809.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1. The resulting isoform (2) uses a downstream start site and has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC023170, AI566662, DA618122, DA677507
    Consensus CDS
    CCDS73139.1
    UniProtKB/TrEMBL
    A0A087WW00
    Related
    ENSP00000479814.1, ENST00000615793.1
    Conserved Domains (1) summary
    COG5078
    Location:3109
    COG5078; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
  2. NM_003338.5NP_003329.1  ubiquitin-conjugating enzyme E2 D1 isoform 1

    See identical proteins and their annotated locations for NP_003329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC023170, BC005980, DA677507
    Consensus CDS
    CCDS7252.1
    UniProtKB/Swiss-Prot
    P51668
    UniProtKB/TrEMBL
    A0A024QZJ2
    Related
    ENSP00000363019.3, ENST00000373910.8
    Conserved Domains (1) summary
    cl00154
    Location:1146
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    58334979..58370753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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