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UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) [ Homo sapiens (human) ]

Gene ID: 51619, updated on 7-Apr-2024

Summary

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Official Symbol
UBE2D4provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 D4 (putative)provided by HGNC
Primary source
HGNC:HGNC:21647
See related
Ensembl:ENSG00000078967 AllianceGenome:HGNC:21647
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBUCE1
Summary
Enables ubiquitin conjugating enzyme activity. Involved in protein polyubiquitination. Acts upstream of or within protein ubiquitination. Predicted to be part of ubiquitin ligase complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 6.5), heart (RPKM 5.7) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
7p13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43926436..43956136)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44084736..44114438)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (43966035..43995735)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene URGCP-MRPS24 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18130 Neighboring gene uncharacterized LOC124901620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25921 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:43911515-43911690 Neighboring gene upregulator of cell proliferation Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18133 Neighboring gene tubulin gamma 1 pseudogene Neighboring gene RNA polymerase II subunit J4 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44010479-44010996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18136 Neighboring gene speedy/RINGO cell cycle regulator family member E1 Neighboring gene Sharpr-MPRA regulatory region 7454 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:44070666-44070855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44075983-44076482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18138 Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene long intergenic non-protein coding RNA 957

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Accumulation of p53 via down-regulation of UBE2D family genes is a critical pathway for cadmium-induced renal toxicity. Lee JY, et al. Sci Rep, 2016 Feb 25. PMID 26912277, Free PMC Article
  2. Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H. Lazzari E, et al. Cells, 2019 Mar 16. PMID 30884854, Free PMC Article
  3. Inhibition of UVSSA ubiquitination suppresses transcription-coupled nucleotide excision repair deficiency caused by dissociation from USP7. Higa M, et al. FEBS J, 2018 Mar. PMID 29323787
  4. Structure and catalytic activation of the TRIM23 RING E3 ubiquitin ligase. Dawidziak DM, et al. Proteins, 2017 Oct. PMID 28681414, Free PMC Article
  5. Ube2W conjugates ubiquitin to α-amino groups of protein N-termini. Tatham MH, et al. Biochem J, 2013 Jul 1. PMID 23560854, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32004

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 binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein K11-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K11-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K27-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K29-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K6-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein K63-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within protein ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ubiquitin-conjugating enzyme E2 D4
Names
E2 ubiquitin-conjugating enzyme D4
ubiquitin carrier protein D4
ubiquitin conjugating enzyme E2D 4 (putative)
ubiquitin-conjugating enzyme HBUCE1
ubiquitin-protein ligase D4
NP_057067.1
XP_006715797.1
XP_024302563.1
XP_047276417.1
XP_047276418.1
XP_047276419.1
XP_047276420.1
XP_054214351.1
XP_054214352.1
XP_054214353.1
XP_054214354.1
XP_054214355.1
XP_054214356.1

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_015983.4 → NP_057067.1  ubiquitin-conjugating enzyme E2 D4

    See identical proteins and their annotated locations for NP_057067.1

    Status: VALIDATED

    Source sequence(s)
    AC004985, AW014299, BC004104, BG499454
    Consensus CDS
    CCDS5474.1
    UniProtKB/Swiss-Prot
    A4D1V0, Q9Y2X8
    Related
    ENSP00000222402.2, ENST00000222402.8
    Conserved Domains (1) summary
    cl00154
    Location:1 → 146
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    43926436..43956136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715734.4 → XP_006715797.1  ubiquitin-conjugating enzyme E2 D4 isoform X2

    Conserved Domains (1) summary
    cl00154
    Location:1 → 146
    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. XM_047420461.1 → XP_047276417.1  ubiquitin-conjugating enzyme E2 D4 isoform X3

  3. XM_047420462.1 → XP_047276418.1  ubiquitin-conjugating enzyme E2 D4 isoform X4

  4. XM_047420463.1 → XP_047276419.1  ubiquitin-conjugating enzyme E2 D4 isoform X5

  5. XM_024446795.2 → XP_024302563.1  ubiquitin-conjugating enzyme E2 D4 isoform X1

    Conserved Domains (1) summary
    cl00154
    Location:54 → 191
    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 ...

  6. XM_047420464.1 → XP_047276420.1  ubiquitin-conjugating enzyme E2 D4 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    44084736..44114438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358378.1 → XP_054214353.1  ubiquitin-conjugating enzyme E2 D4 isoform X3

  2. XM_054358379.1 → XP_054214354.1  ubiquitin-conjugating enzyme E2 D4 isoform X4

  3. XM_054358377.1 → XP_054214352.1  ubiquitin-conjugating enzyme E2 D4 isoform X2

  4. XM_054358380.1 → XP_054214355.1  ubiquitin-conjugating enzyme E2 D4 isoform X5

  5. XM_054358376.1 → XP_054214351.1  ubiquitin-conjugating enzyme E2 D4 isoform X1

  6. XM_054358381.1 → XP_054214356.1  ubiquitin-conjugating enzyme E2 D4 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2X8.1 GenPept UniProtKB/Swiss-Prot:Q9Y2X8

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