CYP11A1 - cytochrome P450 family 11 subfamily A member 1 Gene
Also Known as CYP11A; CYPXIA1; P450SCC
Species: Homo sapiens
About CYP11A1
This gene has 10 transcripts (splice variants), 1 gene allele, 194 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 261.9), placenta (RPKM 29.0) and 1 other tissue.
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 mitochondrial inner membrane and catalyzes the conversion of Cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid Hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
CYP11A1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000781.3 | NP_000772.2 | cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor |
| NM_001099773.2 | NP_001093243.1 | cholesterol side-chain cleavage enzyme, mitochondrial isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cholesterol monooxygenase (side-chain-cleaving) activity |
IDA
IDA: Inferred from direct assay
|
11502818 | GOA |
| enables heme binding |
IDA
IDA: Inferred from direct assay
|
21636783 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25464930 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in C21-steroid hormone biosynthetic process |
IDA
IDA: Inferred from direct assay
|
11502818 | GOA |
| involved in cholesterol metabolic process |
IDA
IDA: Inferred from direct assay
|
21636783 | GOA |
| involved in cholesterol metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
18182448 | GOA |
CYP11A1 Protein Structure
p450: Cytochrome P450 (52 - 511)
- 0
- 100
- 200
- 300
- 400
- 521 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cholesterol side-chain cleavage enzyme, mitochondrial |
|
CYP11A1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81223 | CYP11A1 Antibody | WB, IHC-P, IHC-F, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency |
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| Polycystic Ovary Syndrome |
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| Lipoid Congenital Adrenal Hyperplasia |
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| 46,Xy Sex Reversal |
|
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| Acute Adrenal Insufficiency |
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| Hyperandrogenism |
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| Autoimmune Polyendocrine Syndrome |
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| Smith-Lemli-Opitz Syndrome |
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| Hypoadrenocorticism, Familial |
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| Choriocarcinoma |
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| Conn'S Syndrome |
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| Leydig Cell Tumor |
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| Adrenal Cortical Adenoma |
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| Adrenal Adenoma |
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| Antley-Bixler Syndrome |
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| Ovarian Hyperstimulation Syndrome |
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| Hypospadias |
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| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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| Adrenal Cortical Carcinoma |
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| Steroid Inherited Metabolic Disorder |
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| Adrenal Carcinoma |
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| 46,Xy Sex Reversal 2 |
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| Leydig Cell Hypoplasia |
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| Familial Glucocorticoid Deficiency |
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| Ovarian Disease |
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| Adrenal Cortical Hypofunction |
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| Adrenal Rest Tumor |
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| Adrenal Hypoplasia, Congenital |
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| Adrenal Cortex Disease |
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| Infertility |
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| Adrenal Gland Disease |
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| Corticosterone Methyloxidase Type I Deficiency |
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| Pseudohermaphroditism |
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| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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| Premature Menopause |
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| Disorder Of Sexual Development |
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| Achalasia-Addisonianism-Alacrima Syndrome |
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| Asperger Syndrome |
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| Cryptorchidism, Unilateral Or Bilateral |
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| Premature Ovarian Failure 1 |
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| Amelogenesis Imperfecta, Type Ig |
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| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
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| Spermatogenic Failure |
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| Prostate Cancer |
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| Amelogenesis Imperfecta |
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| Body Mass Index Quantitative Trait Locus 11 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CYP11A1 | VGNC | VGNC:110229 |
| Rattus norvegicus | CYP11A1 | RGD | RGD:69325 |
| Macaca mulatta | CYP11A1 | VGNC | VGNC:103616 |
| Felis catus | CYP11A1 | VGNC | VGNC:103330 |
| Mus musculus | CYP11A1 | MGD | MGI:88582 |
| Canis familiaris | CYP11A1 | VGNC | VGNC:50329 |
| Others | CYP11A1 | NCBI |