Entity Details

Primary name CP21A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP08686
EntryNameCP21A_HUMAN
FullNameSteroid 21-hydroxylase
TaxID9606
Evidenceevidence at protein level
Length494
SequenceStatuscomplete
DateCreated1986-11-01
DateModified2021-06-02

Ontological Relatives

GenesCYP21A2

GO terms

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GOName
GO:0004509 steroid 21-monooxygenase activity
GO:0005496 steroid binding
GO:0005506 iron ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0006694 steroid biosynthetic process
GO:0006704 glucocorticoid biosynthetic process
GO:0006705 mineralocorticoid biosynthetic process
GO:0008202 steroid metabolic process
GO:0008395 steroid hydroxylase activity
GO:0016125 sterol metabolic process
GO:0020037 heme binding
GO:0103069 17-hydroxyprogesterone 21-hydroxylase activity
GO:0106309 progesterone 21-hydroxylase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Microsome membrane

Domains

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DomainNameCategoryType
IPR001128 Cytochrome P450FamilyFamily
IPR002401 Cytochrome P450, E-class, group IFamilyFamily
IPR017972 Cytochrome P450, conserved siteSiteConserved site
IPR036396 Cytochrome P450 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
201910 OMIMAdrenal hyperplasia 3 (AH3)A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01026 KetoconazoleDrugbanksmall molecule