Human Gene COX4I1 (uc002fje.3) Description and Page Index
Description: Homo sapiens cytochrome c oxidase subunit IV isoform 1 (COX4I1), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_001861): 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]. Transcript (Including UTRs) Position: hg19 chr16:85,833,173-85,840,607 Size: 7,435 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr16:85,834,812-85,840,480 Size: 5,669 Coding Exon Count: 4
ID:COX41_HUMAN DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 4 isoform 1, mitochondrial; AltName: Full=Cytochrome c oxidase polypeptide IV; AltName: Full=Cytochrome c oxidase subunit IV isoform 1; Short=COX IV-1; Flags: Precursor; FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. INTERACTION: Q9HC24:TMBIM4; NbExp=1; IntAct=EBI-1056574, EBI-1045545; SUBCELLULAR LOCATION: Mitochondrion inner membrane. TISSUE SPECIFICITY: Ubiquitous. SIMILARITY: Belongs to the cytochrome c oxidase IV family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): COX4I1 CDC HuGE Published Literature: COX4I1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02936 - Cytochrome c oxidase subunit IV
SCOP Domains: 81406 - Mitochondrial cytochrome c oxidase subunit IV
ModBase Predicted Comparative 3D Structure on P13073
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006091 generation of precursor metabolites and energy GO:0006123 mitochondrial electron transport, cytochrome c to oxygen GO:0007584 response to nutrient GO:1902600 hydrogen ion transmembrane transport