COX7B
entrez
1349
canonical
uniprot
P24311
canonical
ensembl
ENSG00000131174
resolver
ensp
ENSP00000497474
resolver
ensp
ENSP00000527818
resolver
ensp
ENSP00000582814
resolver
enst
ENST00000650309
resolver
enst
ENST00000857759
resolver
enst
ENST00000912755
resolver
genesymbol
COX7B
resolver
hgnc
HGNC:2291
resolver
uniprot
B2R4M3
resolver
uniprot
Q6ICR1
resolver
uniprot_entry
COX7B_HUMAN
resolver
uniprot_sec
B2R4M3
resolver
uniprot_sec
Q6ICR1
resolver
amino_acid_sequence
MFPLVKSALNRLQVRSIQQTMARQSHQKRTPDFHDKYGNAVLASGATFCIVTWTYVATQVGIEWNLSPVGRVTPKEWRNQ
uniprot
proteins
disease_involvement
DISEASE: Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) [MIM:300887]: A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. {ECO:0000269|PubMed:23122588}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (By similarity). Plays a role in proper central nervous system (CNS) development in vertebrates (PubMed:23122588). {ECO:0000250|UniProtKB:P13183, ECO:0000269|PubMed:23122588}.
uniprot
proteins
mass_dalton
9161
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P13183}.
uniprot
proteins
protein_family
Cytochrome c oxidase VIIb family
uniprot
proteins
pubmed
1309697
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
23122588
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
8382530
uniprot
proteins
sequence_length
80
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30030519}; Single-pass membrane protein {ECO:0000269|PubMed:30030519}.
uniprot
proteins
transmembrane_region
TRANSMEM 33..59; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P13183
uniprot
proteins