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MGP000740

UniProt Annotations

Entry Information
Gene Namecytochrome b5 type A (microsomal)
Protein EntryCYB5_HUMAN
UniProt IDP00167
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Liver, Membrane-bound; IsoId=P00167-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte, Cytoplasmic; IsoId=P00167-2; Sequence=VSP_001240, VSP_001241; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P00167-3; Sequence=VSP_045367; Note=No experimental confirmation available.;
DiseaseMethemoglobinemia CYB5A-related (METHB-CYB5A) [MIM:250790]: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. {ECO:0000269|PubMed:8168836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.
Sequence CautionSequence=AAA63169.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the cytochrome b5 family. {ECO:0000305}.
SimilarityContains 1 cytochrome b5 heme-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00279}.
Subcellular LocationIsoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Microsome membrane; Single-pass membrane protein; Cytoplasmic side.
Subcellular LocationIsoform 2: Cytoplasm.
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