LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP002365

UniProt Annotations

Entry Information
Gene Namecytochrome P450, family 21, subfamily A, polypeptide 2
Protein EntryCP21A_HUMAN
UniProt IDP08686
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08686-1; Sequence=Displayed; Name=2; IsoId=P08686-2; Sequence=VSP_046264, VSP_046265; Note=No experimental confirmation available.;
Catalytic ActivityA C(21) steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a 21-hydroxy-C(21)-steroid + (oxidized NADPH-- hemoprotein reductase) + H(2)O.
CofactorName=heme; Xref=ChEBI
DiseaseAdrenal hyperplasia 3 (AH3) [MIM
DomainThe leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
FunctionSpecifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.
PolymorphismSeven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.
SimilarityBelongs to the cytochrome P450 family.
Subcellular LocationEndoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Web ResourceName=Cytochrome P450 Allele Nomenclature Committee; Note=CYP21A2 alleles; URL="http://www.cypalleles.ki.se/cyp21.htm";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2";