COX4I1 Gene Summary [Human]

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Details

Type
Protein Coding
Official Symbol
COX4I1
Official Name
cytochrome c oxidase subunit 4I1 [Source:HGNC Symbol;Acc:HGNC:2265]
Ensembl ID
ENSG00000131143
Bio databases IDs NCBI: 1327 Ensembl: ENSG00000131143
Aliases cytochrome c oxidase subunit 4I1
Synonyms CcO IVi1, COX, COX4, COX4-1, COX4A, COX4I, COXIV, COX IV-1, cytochrome c oxidase subunit 4I1, IV-1, MC4DN16
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 COX4I1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytochrome-c oxidase
  • Cyt_c_Oxidase_IV
  • signal peptide
  • enzyme
  • protein binding

Pathways

Biological processes and signaling networks where the COX4I1 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
  • Huntington disease
  • Leigh syndrome
  • insulin resistance
  • leprosy
  • nuclear type 16 mitochondrial complex IV deficiency
  • ductal breast carcinoma
  • ductal breast cancer
  • nuclear type 1 mitochondrial complex iv deficiency
regulated by
role in cell
  • expression in
  • production in
  • induction in
  • growth
  • osteoclastogenesis
  • senescence
  • phagocytosis by
  • glycolysis in
  • glycolytic flux in
  • permeability transition

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
  • membrane fraction
  • mitochondrial fraction
  • pH resistant lipid raft fraction
  • detergent resistant lipid raft fraction
  • Mitochondria
  • cytosol
  • Golgi membrane
  • mitochondrial membrane
  • mitochondrial intermembrane space
  • mitochondrial inner membrane
  • nucleoplasm
  • mitoplasts

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COX4I1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • generation of precursor metabolites and energy
  • mitochondrial electron transport, cytochrome c to oxygen
  • cellular respiration

Cellular Component

Where in the cell the gene product is active
  • mitochondrial membrane
  • membrane
  • mitochondrion
  • cytosol
  • mitochondrial respiratory chain complex IV
  • mitochondrial inner membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • cytochrome-c oxidase 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.