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UBE4A ubiquitination factor E4A [ Homo sapiens (human) ]

Gene ID: 9354, updated on 6-Jan-2019

Summary

Official Symbol
UBE4Aprovided by HGNC
Official Full Name
ubiquitination factor E4Aprovided by HGNC
Primary source
HGNC:HGNC:12499
See related
Ensembl:ENSG00000110344 MIM:603753
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
E4; UFD2; UBOX2
Summary
This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in brain (RPKM 15.5), appendix (RPKM 14.1) and 25 other tissues See more
Orthologs

Genomic context

See UBE4A in Genome Data Viewer
Location:
11q23.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118359581..118399211)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118230296..118269926)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CD3d molecule Neighboring gene CD3g molecule Neighboring gene uncharacterized LOC100131626 Neighboring gene ATP synthase membrane subunit g Neighboring gene lysine methyltransferase 2A Neighboring gene uncharacterized LOC101929089

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
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0126, MGC133315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-ubiquitin ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ubiquitin conjugation factor E4 A
Names
RING-type E3 ubiquitin transferase E4 A
ubiquitination factor E4A (UFD2 homolog, yeast)
NP_001191006.1
NP_004779.2

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_047106.1 RefSeqGene

    Range
    5001..44631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204077.1NP_001191006.1  ubiquitin conjugation factor E4 A isoform 2

    See identical proteins and their annotated locations for NP_001191006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AP001267, AW021567, BC039240, BC112367, DB068702
    Consensus CDS
    CCDS55790.1
    UniProtKB/Swiss-Prot
    Q14139
    Related
    ENSP00000252108.3, ENST00000252108.7
    Conserved Domains (2) summary
    pfam10408
    Location:330971
    Ufd2P_core; Ubiquitin elongating factor core
    cd16657
    Location:9901059
    RING-Ubox_UBE4A; U-box domain, a modified RING finger, found in ubiquitin conjugation factor E4 A (UBE4A) and similar proteins
  2. NM_004788.3NP_004779.2  ubiquitin conjugation factor E4 A isoform 1

    See identical proteins and their annotated locations for NP_004779.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP001267, AW021567, BC039240, BC062695, D50916, DB068702
    Consensus CDS
    CCDS8396.1
    UniProtKB/Swiss-Prot
    Q14139
    Related
    ENSP00000387362.2, ENST00000431736.6
    Conserved Domains (3) summary
    COG5113
    Location:1701068
    UFD2; Ubiquitin fusion degradation protein 2 [Posttranslational modification, protein turnover, chaperones]
    pfam04564
    Location:9951067
    U-box; U-box domain
    pfam10408
    Location:337978
    Ufd2P_core; Ubiquitin elongating factor core

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_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    118359581..118399211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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