Human Gene COX4I2 (ENST00000376075.4) from GENCODE V44
Description: Homo sapiens cytochrome c oxidase subunit 4I2 (COX4I2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032609) RefSeq Summary (NM_032609): Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000376075.4 Gencode Gene: ENSG00000131055.5 Transcript (Including UTRs) Position: hg38 chr20:31,637,912-31,645,006 Size: 7,095 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr20:31,639,018-31,644,904 Size: 5,887 Coding Exon Count: 4
ID:COX42_HUMAN DESCRIPTION: RecName: Full=Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; AltName: Full=Cytochrome c oxidase subunit IV isoform 2; Short=COX IV-2; Flags: Precursor; FUNCTION: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. SUBCELLULAR LOCATION: Mitochondrion inner membrane. TISSUE SPECIFICITY: Highly expressed in lung. DISEASE: Defects in COX4I2 are the cause of exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]. Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. SIMILARITY: Belongs to the cytochrome c oxidase IV family.
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
ModBase Predicted Comparative 3D Structure on Q96KJ9
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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:0045333 cellular respiration GO:0055114 oxidation-reduction process GO:0071456 cellular response to hypoxia GO:1902600 hydrogen ion transmembrane transport
US Server
