C15orf48 Gene Summary [Human]

This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]

Details

Type
Protein Coding
Official Symbol
C15orf48
Official Name
chromosome 15 open reading frame 48 [Source:HGNC Symbol;Acc:HGNC:29898]
Ensembl ID
ENSG00000166920
Bio databases IDs NCBI: 84419 Ensembl: ENSG00000166920
Aliases chromosome 15 open reading frame 48, normal mucosa of esophagus specific 1, MIR147B host gene, cytochrome c oxidase subunit FA4 like 3, modulator of cytochrome C oxidase during inflammation, mitochondrial stress response antiviral
Synonyms AA467197, C3h15orf48, chromosome 15 open reading frame 48, COXFA4L3, expressed sequence AA467197, FOAP-11, mir-147, MIR147BHG, MISTRAV, MOCCI, NMES1, similar to human chromosome 15 open reading frame 48
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 C15orf48 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • NADH-ubiquinone reductase complex 1 MLRQ subunit

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • colon cancer
  • chronic periodontal disease
regulated by
regulates
role in cell
  • production in
  • transmembrane potential

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C15orf48 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to bacterium

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • mitochondrial respiratory chain complex IV

Molecular Function

What the gene product does at the molecular level
  • protein binding

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.