Gene/Proteome Database (LMPD)

LMPD ID
LMP002365
Gene ID
1589
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 21, subfamily A, polypeptide 2
Gene Symbol
CYP21A2
Synonyms
CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B
Alternate Names
steroid 21-hydroxylase; 21-OHase; cytochrome P450 XXI; cytochrome P450-C21B; steroid 21-monooxygenase; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
Chromosome
6
Map Location
6p21.3
EC Number
1.14.99.10
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for CYP21A2

Proteins

steroid 21-hydroxylase isoform a
Refseq ID NP_000491
Protein GI 323510663
UniProt ID P08686
mRNA ID NM_000500
Length 495
RefSeq Status REVIEWED
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ
steroid 21-hydroxylase isoform b
Refseq ID NP_001122062
Protein GI 323510665
UniProt ID P08686
mRNA ID NM_001128590
Length 465
RefSeq Status REVIEWED
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ

Gene Information

Entrez Gene ID
1589
Gene Name
cytochrome P450, family 21, subfamily A, polypeptide 2
Gene Symbol
CYP21A2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0020037 IEA:InterPro F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0004509 IEA:UniProtKB-EC F steroid 21-monooxygenase activity
GO:0005496 IEA:UniProtKB-KW F steroid binding
GO:0008395 TAS:ProtInc F steroid hydroxylase activity
GO:0006704 TAS:Reactome P glucocorticoid biosynthetic process
GO:0006705 TAS:Reactome P mineralocorticoid biosynthetic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0008202 TAS:Reactome P steroid metabolic process
GO:0016125 TAS:Reactome P sterol metabolic process
GO:0006805 TAS:Reactome P xenobiotic metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00140 Steroid hormone biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR017972 Cytochrome P450, conserved site

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 21, subfamily A, polypeptide 2
Protein Entry
CP21A_HUMAN
UniProt ID
P08686
Species
Human

Comments

Comment Type Description
Alternative Products Event=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 Activity A C(21) steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a 21-hydroxy-C(21)-steroid + (oxidized NADPH-- hemoprotein reductase) + H(2)O.
Cofactor Name=heme; Xref=ChEBI
Disease Adrenal hyperplasia 3 (AH3) [MIM
Domain The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
Function Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.
Polymorphism Seven 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.
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
Web Resource Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP21A2 alleles; URL="http://www.cypalleles.ki.se/cyp21.htm";
Web Resource Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2";

Identical and Related Proteins

Unique RefSeq proteins for LMP002365 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
323510663 RefSeq NP_000491 495 steroid 21-hydroxylase isoform a
323510665 RefSeq NP_001122062 465 steroid 21-hydroxylase isoform b

Identical Sequences to LMP002365 proteins

Reference Database Accession Length Protein Name
GI:323510665 GenBank EAX03570.1 465 cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_a [Homo sapiens]
GI:323510665 GenBank ADT41933.1 465 Sequence 879 from patent US 7833706
GI:323510663 GenBank AFK10125.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10126.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10133.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10134.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AHA59281.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AHE00456.1 495 Sequence 52882 from patent US 8586006

Related Sequences to LMP002365 proteins

Reference Database Accession Length Protein Name
GI:323510665 DBBJ BAB70774.1 465 unnamed protein product [Homo sapiens]
GI:323510663 GenBank AAA52064.1 495 21-hydroxylase B [Homo sapiens]
GI:323510663 GenBank AAA52065.1 495 mutant 21-hydroxylase B [Homo sapiens]
GI:323510665 GenBank ABE14097.1 465 Sequence 1663 from patent US 6979557
GI:323510665 GenBank ACT35404.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510665 GenBank ACT35409.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510665 GenBank ACT35415.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510665 GenBank ACT35421.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10127.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10129.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10130.1 495 steroid 21-hydroxylase [Homo sapiens]
GI:323510663 GenBank AFK10131.1 495 steroid 21-hydroxylase [Homo sapiens]