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Aliases for CYP11A1 Gene

Aliases for CYP11A1 Gene

  • Cytochrome P450, Family 11, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P450, Subfamily XIA (Cholesterol Side Chain Cleavage) 2 3
  • Cytochrome P450 11A1 3 4
  • Cytochrome P450(Scc) 3 4
  • EC 1.14.15.6 4 63
  • P450SCC 3 6
  • CYPXIA1 3 4
  • CYP11A 3 4
  • Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial 3
  • Cholesterol Monooxygenase (Side-Chain-Cleaving) 2
  • Cholesterol Monooxygenase (Side-Chain Cleaving) 3
  • Cholesterol 20-22 Desmolase 3
  • Cholesterol Desmolase 4
  • Cytochrome P450C11A1 3
  • Steroid 20-22-Lyase 3
  • EC 1.14.15 63

External Ids for CYP11A1 Gene

Previous HGNC Symbols for CYP11A1 Gene

  • CYP11A

Previous GeneCards Identifiers for CYP11A1 Gene

  • GC15M067746
  • GC15M072206
  • GC15M072345
  • GC15M072417
  • GC15M074630
  • GC15M051425

Summaries for CYP11A1 Gene

Entrez Gene Summary for CYP11A1 Gene

  • 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]

GeneCards Summary for CYP11A1 Gene

CYP11A1 (Cytochrome P450, Family 11, Subfamily A, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP11A1 include adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete and 46,xy disorder of sex development - adrenal insufficiency due to cyp11a1 deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP24A1.

UniProtKB/Swiss-Prot for CYP11A1 Gene

  • Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.

Gene Wiki entry for CYP11A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP11A1 Gene

Genomics for CYP11A1 Gene

Regulatory Elements for CYP11A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP11A1 Gene

Start:
74,337,759 bp from pter
End:
74,369,579 bp from pter
Size:
31,821 bases
Orientation:
Minus strand

Genomic View for CYP11A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP11A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP11A1 Gene

Proteins for CYP11A1 Gene

  • Protein details for CYP11A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05108-CP11A_HUMAN
    Recommended name:
    Cholesterol side-chain cleavage enzyme, mitochondrial
    Protein Accession:
    P05108
    Secondary Accessions:
    • A8K8D5
    • B3KPU8
    • G3XAD7
    • Q15081
    • Q16805
    • Q8N1A7

    Protein attributes for CYP11A1 Gene

    Size:
    521 amino acids
    Molecular mass:
    60102 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Interacts with FDX1/adrenodoxin.

    Three dimensional structures from OCA and Proteopedia for CYP11A1 Gene

    Alternative splice isoforms for CYP11A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP11A1 Gene

Proteomics data for CYP11A1 Gene at MOPED

Post-translational modifications for CYP11A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CYP11A1 (CYP11A1)

Domains for CYP11A1 Gene

Gene Families for CYP11A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP11A1 Gene

Suggested Antigen Peptide Sequences for CYP11A1 Gene

Graphical View of Domain Structure for InterPro Entry

P05108

UniProtKB/Swiss-Prot:

CP11A_HUMAN :
  • P05108
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11A1: view

Function for CYP11A1 Gene

Molecular function for CYP11A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + 6 reduced adrenodoxin + 3 O(2) + 6 H(+) = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
UniProtKB/Swiss-Prot Induction:
By 8-bromo cyclic AMP.

Enzyme Numbers (IUBMB) for CYP11A1 Gene

Gene Ontology (GO) - Molecular Function for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity --
GO:0005506 iron ion binding IEA --
GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity TAS --
GO:0015485 cholesterol binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
genes like me logo Genes that share ontologies with CYP11A1: view
genes like me logo Genes that share phenotypes with CYP11A1: view

Animal Models for CYP11A1 Gene

MGI Knock Outs for CYP11A1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP11A1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CYP11A1 Gene

Localization for CYP11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11A1 Gene

Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP11A1 Gene COMPARTMENTS Subcellular localization image for CYP11A1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane --
GO:0005759 mitochondrial matrix TAS --
GO:0030061 mitochondrial crista IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with CYP11A1: view

Pathways for CYP11A1 Gene

genes like me logo Genes that share pathways with CYP11A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P05108-CP11A_HUMAN

  • Pathway: Lipid metabolism; C21-steroid hormone metabolism.

Gene Ontology (GO) - Biological Process for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001101 response to acid chemical --
GO:0006082 organic acid metabolic process --
GO:0006694 steroid biosynthetic process --
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0006701 progesterone biosynthetic process IEA --
genes like me logo Genes that share ontologies with CYP11A1: view

Compounds for CYP11A1 Gene

(18) HMDB Compounds for CYP11A1 Gene

Compound Synonyms Cas Number PubMed IDs
17a,20a-Dihydroxycholesterol
  • 17alpha,20alpha-Dihydroxycholesterol
Not Available
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
387-79-1
20a,22b-Dihydroxycholesterol
  • Not Available
15234-55-6
20alpha-Hydroxycholesterol
  • 20alpha-Hydroxycholesterol
516-72-3
22b-Hydroxycholesterol
  • (3beta,22R)-Cholest-5-ene-3,22-diol
22348-64-7

(15) Drugbank Compounds for CYP11A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Aminoglutethimide
  • Dl-Aminoglutethimide
125-84-8 target inhibitor
Cholecalciferol
  • (+)-vitamin D3
67-97-0 enzyme substrate
Clomifene
  • Chlomaphene
911-45-5 enzyme inhibitor
Clotrimazole
  • Chlotrimazole
23593-75-1 enzyme inhibitor
Dexamethasone
  • Desametasone
50-02-2 enzyme inhibitor

(79) Novoseek inferred chemical compound relationships for CYP11A1 Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 93.7 90
22r-hydroxycholesterol 82.7 7
steroid 80.6 75
cholesterol 79.3 126
20alpha-hydroxycholesterol 78.8 3
genes like me logo Genes that share compounds with CYP11A1: view

Transcripts for CYP11A1 Gene

Unigene Clusters for CYP11A1 Gene

Cytochrome P450, family 11, subfamily A, polypeptide 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP11A1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - - - - - -
SP4: -
SP5: -
SP6: - - -

Relevant External Links for CYP11A1 Gene

GeneLoc Exon Structure for
CYP11A1
ECgene alternative splicing isoforms for
CYP11A1

Expression for CYP11A1 Gene

mRNA expression in normal human tissues for CYP11A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP11A1 Gene

This gene is overexpressed in Adrenal Gland (47.1).

Protein differential expression in normal tissues for CYP11A1 Gene

This gene is overexpressed in Adrenal (29.2), Fetal testis (20.5), Placenta (10.0), and Testis (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP11A1 Gene

SOURCE GeneReport for Unigene cluster for CYP11A1 Gene Hs.303980

genes like me logo Genes that share expressions with CYP11A1: view

Expression partners for CYP11A1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CYP11A1 Gene

Orthologs for CYP11A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP11A1 35
  • 81.76 (n)
  • 73.03 (a)
CYP11A1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP11A1 35
  • 85.42 (n)
  • 80.15 (a)
CYP11A1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp11a1 35
  • 80.18 (n)
  • 76.41 (a)
Cyp11a1 16
Cyp11a1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP11A1 35
  • 98.91 (n)
  • 98.91 (a)
rat
(Rattus norvegicus)
Mammalia Cyp11a1 35
  • 80.31 (n)
  • 77.58 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP11A1 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP11A1 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP11A1 35
  • 64.06 (n)
  • 54.55 (a)
CYP11A1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495360 35
  • 57.25 (n)
  • 52.3 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
LOC563363 35
  • 57.82 (n)
  • 50.32 (a)
cyp11a1 36
  • 46 (a)
OneToMany
CYP11A1 (2 of 2) 36
  • 46 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11583 35
fruit fly
(Drosophila melanogaster)
Insecta dib 36
  • 24 (a)
ManyToMany
shd 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for CYP11A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP11A1 Gene

ENSEMBL:
Gene Tree for CYP11A1 (if available)
TreeFam:
Gene Tree for CYP11A1 (if available)

Paralogs for CYP11A1 Gene

Paralogs for CYP11A1 Gene

Selected SIMAP similar genes for CYP11A1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CYP11A1: view

Variants for CYP11A1 Gene

Sequence variations from dbSNP and Humsavar for CYP11A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs6160 -- 74,343,982(-) ACTAA(C/T)GTCAT reference, synonymous-codon
rs6161 - 74,343,027(-) CCTTC(A/G)AGGAC missense, reference
rs1049968 -- 74,343,064(-) GGCAT(A/C/G)CTCTA synonymous-codon, reference, missense
rs1130841 -- 74,367,539(-) AGGCT(A/G)CCAGA missense, reference, upstream-variant-2KB, intron-variant
rs1130843 -- 74,343,796(-) ATTTT(C/G)AGTAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP11A1 Gene

Variant ID Type Subtype PubMed ID
nsv510938 CNV Complex 20534489
dgv2406n71 CNV Loss 21882294
esv28469 CNV Gain 19812545

Relevant External Links for CYP11A1 Gene

HapMap Linkage Disequilibrium report
CYP11A1
Human Gene Mutation Database (HGMD)
CYP11A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11A1 Gene

Disorders for CYP11A1 Gene

(1) OMIM Diseases for CYP11A1 Gene (118485)

UniProtKB/Swiss-Prot

CP11A_HUMAN
  • Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. {ECO:0000269 PubMed:11502818, ECO:0000269 PubMed:12161514, ECO:0000269 PubMed:16705068, ECO:0000269 PubMed:18182448, ECO:0000269 PubMed:19116240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CYP11A1 Gene

(39) Novoseek inferred disease relationships for CYP11A1 Gene

Disease -log(P) Hits PubMed IDs
lipoid congenital adrenal hyperplasia 89.6 8
carcinoma adrenocortical 68.9 2
leydig cell tumor 68.4 1
polycystic ovary syndrome 65.8 9
adrenal hyperplasia congenital 65.3 3

Relevant External Links for CYP11A1

Genetic Association Database (GAD)
CYP11A1
Human Genome Epidemiology (HuGE) Navigator
CYP11A1
genes like me logo Genes that share disorders with CYP11A1: view

No data available for Genatlas for CYP11A1 Gene

Publications for CYP11A1 Gene

  1. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. (PMID: 11502818) Tajima T. … Miller W.L. (J. Clin. Endocrinol. Metab. 2001) 3 4 23
  2. Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. (PMID: 12161514) Katsumata N. … Tanaka T. (J. Clin. Endocrinol. Metab. 2002) 3 4 23
  3. Population-based case-control study of CYP11A gene polymorphism and breast cancer risk. (PMID: 15159300) Zheng W. … Smith J.R. (Cancer Epidemiol. Biomarkers Prev. 2004) 3 23 48
  4. Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. (PMID: 15126571) Gaasenbeek M. … McCarthy M.I. (J. Clin. Endocrinol. Metab. 2004) 3 23 48
  5. Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta. (PMID: 16103457) Douglas J.A. … Cooney K.A. (Cancer Epidemiol. Biomarkers Prev. 2005) 3 23 48

Products for CYP11A1 Gene

Sources for CYP11A1 Gene

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