UBE4A Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
UBE4A
Official Name
ubiquitination factor E4A [Source:HGNC Symbol;Acc:HGNC:12499]
Ensembl ID
ENSG00000110344
Bio databases IDs NCBI: 9354 Ensembl: ENSG00000110344
Aliases ubiquitination factor E4A
Synonyms 4732444G18Rik, 9930123J21Rik, Ab2-232, E4, NEDHMS, ubiquitination factor E4A, UBOX2, UFD2, UFD2b
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UBE4A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ubiquitin protein ligase activity
  • RING finger (Really Interesting New Gene) domain and U-box domain superfamily
  • Modified RING finger domain
  • enzyme
  • protein binding
  • Ubiquitin elongating factor core

Pathways

Biological processes and signaling networks where the UBE4A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • colorectal cancer
  • major depression
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • aortic valve calcification
  • neurodevelopmental disorder
  • neurodevelopmental disorder with hypotonia and gross motor and speech delay
regulated by
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human UBE4A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein polyubiquitination
  • ubiquitin-dependent protein catabolic process

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • ubiquitin ligase complex
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • ubiquitin-ubiquitin ligase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.