CYB5A
entrez
1528
canonical
uniprot
P00167
canonical
ensembl
ENSG00000166347
resolver
ensp
ENSP00000341625
resolver
ensp
ENSP00000381011
resolver
ensp
ENSP00000436461
resolver
ensp
ENSP00000668298
resolver
genesymbol
CYB5A
resolver
genesymbol_syn
CYB5
resolver
hgnc
HGNC:2570
resolver
uniprot
A0A384ME44
resolver
uniprot
A8MV91
resolver
uniprot
F8WEU4
resolver
uniprot
Q6IB14
resolver
uniprot_entry
A0A384ME44_HUMAN
resolver
uniprot_entry
CYB5_HUMAN
resolver
uniprot_sec
A8MV91
resolver
uniprot_sec
F8WEU4
resolver
uniprot_sec
Q6IB14
resolver
amino_acid_sequence
MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED
uniprot
proteins
disease_involvement
DISEASE: Methemoglobinemia and ambiguous genitalia (METAG) [MIM:250790]: An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia. {ECO:0000269|PubMed:20080843, ECO:0000269|PubMed:22170710, ECO:0000269|PubMed:8168836}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.
uniprot
proteins
mass_dalton
15330
uniprot
proteins
protein_family
Cytochrome b5 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
1712589
uniprot
proteins
pubmed
20080843
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22170710
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2752049
uniprot
proteins
pubmed
3178851
uniprot
proteins
pubmed
4030743
uniprot
proteins
pubmed
4770377
uniprot
proteins
pubmed
4993957
uniprot
proteins
pubmed
5062820
uniprot
proteins
pubmed
7733981
uniprot
proteins
pubmed
8168836
uniprot
proteins
sequence_length
134
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Microsome membrane; Single-pass membrane protein; Cytoplasmic side.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm.
uniprot
proteins
transmembrane_region
TRANSMEM 109..131; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins