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

Gene ID: 7321, updated on 19-Sep-2024

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; AllianceGenome:HGNC:12474
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
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Genomic context

See UBE2D1 in Genome Data Viewer
Location:
10q21.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58335006..58370748)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59189115..59224853)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60094766..60130508)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:60028628-60029184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2377 Neighboring gene CDGSH iron sulfur domain 1 Neighboring gene uncharacterized LOC112268068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:60094430-60094930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3385 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:60144914-60145570 Neighboring gene transcription factor A, mitochondrial Neighboring gene uncharacterized LOC105378316 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:60207389-60207551

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS 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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
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
 
enables ubiquitin conjugating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of protein-containing 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)

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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_001204880.2NP_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, DA618122
    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
    A6NLF6, A8K786, P51668
    Related
    ENSP00000363019.3, ENST00000373910.9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    58335006..58370748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    59189115..59224853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)