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Details on Person UniProt:P08686-2 CYP21A2
| Class:Id | ReferenceIsoform:8972761 |
|---|---|
| _chainChangeLog | chain:1-494 added on Fri February 17 2017;chain:1-494 for 8972761 removed on Mon Feb 26 2024;chain:1-495 for 8972761 added on Mon Feb 26 2024 |
| _displayName | UniProt:P08686-2 CYP21A2 |
| _timestamp | 2025-02-21 18:55:24 |
| chain | chain:1-495 |
| checksum | CE5C4EE9D3A0851C |
| comment | FUNCTION A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:25855791, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791).CATALYTIC ACTIVITY progesterone + reduced [NADPH--hemoprotein reductase] + O2 = 21-hydroxyprogesterone + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)CATALYTIC ACTIVITY 17alpha-hydroxyprogesterone + reduced [NADPH--hemoprotein reductase] + O2 = 11-deoxycortisol + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)COFACTOR The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.POLYMORPHISM Several non deleterious alleles have been described including CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the cytochrome P450 family. |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: fullName evidence="64"Steroid 21-hydroxylase ecNumber evidence="33 43 45 46"1.14.14.16 alternativeName: 21-OHase alternativeName: Cytochrome P-450c21 alternativeName: Cytochrome P450 21 alternativeName: Cytochrome P450 XXI alternativeName: Cytochrome P450-C21 alternativeName: Cytochrome P450-C21B |
| geneName | CYP21A2 CYP21 CYP21B |
| identifier | P08686 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Congenital adrenal hyperplasia Disease variant Endoplasmic reticulum Heme Iron Lipid metabolism Lipid-binding Membrane Metal-binding Microsome Monooxygenase Oxidoreductase Proteomics identification Reference proteome Steroid-binding Steroidogenesis |
| modified | [InstanceEdit:8987656] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9730071] Weiser, JD [InstanceEdit:9767224] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | CYP21A2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8992971] ENSEMBL:ENSG00000231852 CYP21A2 [Homo sapiens] |
| secondaryIdentifier | CP21A_HUMAN A2BHY6 P04033 Q01204 Q08AG8 Q16749 Q16806 Q16874 Q5ST44 Q96NU8 |
| sequenceLength | 495 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P08686-2 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P08686-2 CYP21A2 (8972761)
