SCO1
entrez
6341
canonical
uniprot
O75880
canonical
ensembl
ENSG00000133028
resolver
ensp
ENSP00000255390
resolver
enst
ENST00000255390
resolver
genesymbol
SCO1
resolver
genesymbol_syn
SCOD1
resolver
hgnc
HGNC:10603
resolver
uniprot
B2RDM0
resolver
uniprot_entry
SCO1_HUMAN
resolver
uniprot_sec
B2RDM0
resolver
amino_acid_sequence
MAMLVLVPGRVMRPLGGQLWRFLPRGLEFWGPAEGTARVLLRQFCARQAEAWRASGRPGYCLGTRPLSTARPPPPWSQKGPGDSTRPSKPGPVSWKSLAITFAIGGALLAGMKHVKKEKAEKLEKERQRHIGKPLLGGPFSLTTHTGERKTDKDYLGQWLLIYFGFTHCPDVCPEELEKMIQVVDEIDSITTLPDLTPLFISIDPERDTKEAIANYVKEFSPKLVGLTGTREEVDQVARAYRVYYSPGPKDEDEDYIVDHTIIMYLIGPDGEFLDYFGQNKRKGEIAASIATHMRPYRKKS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4) [MIM:619048]: An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:11013136, ECO:0000269|PubMed:17182746, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Copper metallochaperone essential for the maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Together with SCO2, involved in delivering copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:15659396, PubMed:16735468, PubMed:17189203, PubMed:19336478). Plays an important role in the regulation of copper homeostasis by controlling the abundance and cell membrane localization of copper transporter CTR1 (By similarity). {ECO:0000250|UniProtKB:Q5SUC9, ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:15659396, ECO:0000269|PubMed:16735468, ECO:0000269|PubMed:17189203, ECO:0000269|PubMed:19336478}.
uniprot
proteins
mass_dalton
33814
uniprot
proteins
protein_family
SCO1/2 family
uniprot
proteins
pubmed
11013136
uniprot
proteins
pubmed
11027508
uniprot
proteins
pubmed
11579424
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15229189
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15659396
uniprot
proteins
pubmed
16735468
uniprot
proteins
pubmed
17182746
uniprot
proteins
pubmed
17189203
uniprot
proteins
pubmed
19336478
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24403053
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26160915
uniprot
proteins
pubmed
28330871
uniprot
proteins
pubmed
29154948
uniprot
proteins
pubmed
29381136
uniprot
proteins
pubmed
9878253
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15229189, ECO:0000305|PubMed:9878253}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 93..111; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins