COA7
entrez
65260
canonical
uniprot
Q96BR5
canonical
ensembl
ENSG00000162377
resolver
ensp
ENSP00000360593
resolver
enst
ENST00000371538
resolver
genesymbol
COA7
resolver
genesymbol_syn
C1orf163
resolver
genesymbol_syn
RESA1
resolver
genesymbol_syn
SELRC1
resolver
hgnc
HGNC:25716
resolver
uniprot
Q0P6I7
resolver
uniprot
Q9H9Z9
resolver
uniprot_entry
COA7_HUMAN
resolver
uniprot_sec
Q0P6I7
resolver
uniprot_sec
Q9H9Z9
resolver
amino_acid_sequence
MAGMVDFQDEEQVKSFLENMEVECNYHCYHEKDPDGCYRLVDYLEGIRKNFDEAAKVLKFNCEENQHSDSCYKLGAYYVTGKGGLTQDLKAAARCFLMACEKPGKKSIAACHNVGLLAHDGQVNEDGQPDLGKARDYYTRACDGGYTSSCFNLSAMFLQGAPGFPKDMDLACKYSMKACDLGHIWACANASRMYKLGDGVDKDEAKAEVLKNRAQQLHKEQQKGVQPLTFG
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) [MIM:618387]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:27683825, ECO:0000269|PubMed:29718187, ECO:0000269|PubMed:30885959}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for assembly of mitochondrial respiratory chain complex I and complex IV. {ECO:0000269|PubMed:24333015}.
uniprot
proteins
mass_dalton
25709
uniprot
proteins
protein_family
Hcp beta-lactamase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24333015
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27683825
uniprot
proteins
pubmed
29718187
uniprot
proteins
pubmed
30885959
uniprot
proteins
sequence_length
231
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24333015, ECO:0000269|PubMed:30885959}. Note=The import in the mitochondrion intermembrane space is mediated by CHCHD4/MIA40. {ECO:0000269|PubMed:30885959}.
uniprot
proteins