| URN | urn:agi-llid:1589 |
|---|---|
| Connectivity | 82 |
| Name | Cyp21a1 |
| Description | cytochrome P450, family 21, subfamily A, polypeptide 2 |
| Notes | 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] |
| Pathway | aldosterone biosynthetic pathway |
|---|---|
| cortisol biosynthetic pathway |
| GO Molecular Function | electron carrier activity |
|---|---|
| lipid binding | |
| oxidoreductase activity | |
| steroid binding | |
| heme binding | |
| metal ion binding | |
| iron ion binding | |
| monooxygenase activity | |
| steroid 21-monooxygenase activity | |
| steroid hydroxylase activity |
| GO Cellular Component | membrane |
|---|---|
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| microsome |
| GO Biological Process | oxidation reduction |
|---|---|
| C21-steroid hormone biosynthetic process | |
| steroid biosynthetic process |
| Ariadne Ontology | Steroid metabolism |
|---|
| Group | Steroid metabolism |
|---|---|
| electron carrier activity | |
| oxidation reduction | |
| C21-steroid hormone biosynthetic process | |
| steroid biosynthetic process | |
| lipid binding | |
| oxidoreductase activity | |
| steroid binding | |
| heme binding | |
| metal ion binding | |
| iron ion binding | |
| monooxygenase activity | |
| steroid 21-monooxygenase activity | |
| steroid hydroxylase activity | |
| membrane | |
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| microsome |
| MedScan ID | 1589 |
|---|
| Hugo ID | 2600 |
|---|
| Human chromosome position | 6p21.3 |
|---|
| LocusLink ID | 1589 |
|---|---|
| 13079 | |
| 24298 |
| Alias | CAH1 |
|---|---|
| CPS1 | |
| CA21H | |
| CYP21 | |
| CYP21B | |
| P450c21B | |
| MGC150536 | |
| MGC150537 | |
| DADB-112B14.10 | |
| steroid 21-hydroxylase | |
| 21-OHase | |
| 21-hydroxylase | |
| cytochrome P450 21 | |
| cytochrome P-450c21 | |
| cytochrome P450 XXI | |
| cytochrome P450-C21 | |
| cytochrome P450-C21B | |
| steroid 21-monooxygenase | |
| cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 | |
| 21OH | |
| 21-OH | |
| 21OHA | |
| 21OHB | |
| Oh21-1 | |
| Oh21-2 | |
| CYP21OH-A | |
| Cyp21-ps1 | |
| Cyp21a2ps | |
| MGC156449 | |
| Cyp21a2-ps | |
| cytochrome P-450 | |
| steroid 21 hydroxylase | |
| cytochrome P450 hydroxylase A | |
| cytochrome P450, 21, pseudogene | |
| cytochrome P450, 21, steroid 21 hydroxylase | |
| cytochrome P450, family 21, subfamily a, polypeptide 2, pseudogene | |
| P-450c21 | |
| P450-C21 | |
| cytochrome P450 21 steroid 21 hydroxylase | |
| cytochrome P450, subfamily 21A, polypeptide 1 | |
| Cytochrome P450 subfamily XXI (steroid 21-hydroxylase) | |
| cytochrome P450, subfamily XXI (steroid 21-hydroxylase) | |
| Cyp21a1 | |
| CYP21A2 | |
| Adrenal cytochrome P450 C21 | |
| CAH I | |
| Cyp21a I | |
| Cyp21a2-p | |
| cytochrome P450 21A | |
| cytochrome P450 21a I | |
| cytochrome P450 21a1 | |
| cytochrome P450 21A2 | |
| cytochrome P450 21a2 pseudogene | |
| cytochrome P450 protein Cyp21 | |
| cytochrome P450 XXI (steroid 21-hydroxylase) | |
| cytochrome P450 XXIB | |
| cytochrome P45021a1 | |
| cytochrome P45021A2 | |
| cytochrome P450XXIA II | |
| cytochrome P450XXIA steroid 21-hydroxylase, congenital adrenal hyperplasia 2 | |
| cytochrome P450XXIA2 | |
| Oh21 I | |
| OTTHUMP00000062684 | |
| P450 (CYP) 21a1 | |
| P450 (CYP) 21A2 | |
| P450 21a1 | |
| P450 21A2 | |
| P45021a1 | |
| P45021A2 | |
| steroid 21-hydroxylase B | |
| steroid 21-hydroxylase, CYP21 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 201910 |
|---|
| Mouse chromosome position | 17 18.77 cM |
|---|
| GO ID | 0009055 |
|---|---|
| 0020037 | |
| 0046872 | |
| 0004509 | |
| 0005496 | |
| 0008395 | |
| 0055114 | |
| 0006694 | |
| 0005783 | |
| 0005789 | |
| 0016020 | |
| 0005792 | |
| 0005506 | |
| 0008289 | |
| 0004497 | |
| 0016491 | |
| 0006700 |
| Rat chromosome position | 20p12 |
|---|
| Swiss-Prot Accession | Q08AG9 |
|---|---|
| Q16874 | |
| Q96NU8 | |
| Q5ST44 | |
| P08686 | |
| Q16741 | |
| Q16742 | |
| Q16746 | |
| Q16748 | |
| Q1EM51 | |
| Q1EM52 | |
| Q1EM53 | |
| Q1H8Y2 | |
| Q1H8Y3 | |
| Q1H8Y4 | |
| Q1H8Y5 | |
| Q2UVX5 | |
| Q2UVX6 | |
| Q7KYP0 | |
| Q7KZ07 | |
| Q9UP07 | |
| P03940 | |
| Q3UJ92 | |
| O54797 | |
| Q62239 | |
| Q64562 | |
| Q8R402 | |
| A0JP50 | |
| O88304 | |
| Q64510 | |
| Q9QX14 |
| PIR ID | A26660 |
|---|---|
| S54785 |
| Unigene ID | Hs.654479 |
|---|---|
| Mm.440407 | |
| Rn.161726 |
| KEGG ID | hsa:1589 |
|---|---|
| mmu:13079 | |
| rno:24298 |
| EC Number | 1.14.99.10 |
|---|
| Swiss-Prot ID | CP21A_MOUSE |
|---|---|
| Q5ST44_HUMAN | |
| Q96NU8_HUMAN | |
| Q08AG9_HUMAN | |
| Q16874_HUMAN | |
| Q3UJ92_MOUSE | |
| CP21A_RAT |
| Cell Localization | Endoplasmic reticulum membrane |
|---|---|
| Microsome membrane | |
| Mitochondria |
| IPI ID | IPI00116920 |
|---|---|
| IPI00332799 | |
| IPI00383631 | |
| IPI00894349 | |
| IPI00871973 | |
| IPI00893248 | |
| IPI00875430 | |
| IPI00213581 | |
| IPI00779076 |
| Homologene ID | 68063 |
|---|
| RGD ID | 2461 |
|---|
| MGI ID | 88591 |
|---|