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-limi... See more...

Aliases for CYP11A1 Gene

Aliases for CYP11A1 Gene

  • Cytochrome P450 Family 11 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XIA (Cholesterol Side Chain Cleavage) 2 3
  • Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial 3 4
  • Cytochrome P450 11A1 3 4
  • Cytochrome P450(Scc) 3 4
  • EC 1.14.15.6 4 50
  • CYPXIA1 3 4
  • P450SCC 2 3
  • CYP11A 3 4
  • Cytochrome P450, Family 11, Subfamily A, Polypeptide 1 2
  • Cytochrome P450 Family 11 Subfamily A Polypeptide 1 3
  • Cholesterol Monooxygenase (Side-Chain-Cleaving) 2
  • Cholesterol Monooxygenase (Side-Chain Cleaving) 3
  • Cholesterol 20-22 Desmolase 3
  • Cholesterol Desmolase 4
  • Steroid 20-22-Lyase 3
  • EC 1.14.15 50
  • CYP11A1 5

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 Member 1) is a Protein Coding gene. Diseases associated with CYP11A1 include Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete and Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency. Among its related pathways are Corticotropin-releasing hormone signaling pathway and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B2.

UniProtKB/Swiss-Prot Summary for CYP11A1 Gene

  • A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal (PubMed:21636783). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:21636783).

Gene Wiki entry for CYP11A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP11A1 Gene

Genomics for CYP11A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP11A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP11A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP11A1

Top Transcription factor binding sites by QIAGEN in the CYP11A1 gene promoter:
  • CREB
  • deltaCREB
  • Egr-2
  • POU6F1 (c2)

Genomic Locations for CYP11A1 Gene

Latest Assembly
chr15:74,337,759-74,367,646
(GRCh38/hg38)
Size:
29,888 bases
Orientation:
Minus strand

Previous Assembly
chr15:74,630,103-74,659,987
(GRCh37/hg19 by Entrez Gene)
Size:
29,885 bases
Orientation:
Minus strand

chr15:74,630,100-74,660,081
(GRCh37/hg19 by Ensembl)
Size:
29,982 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr15(PATCHES):167,031-196,915 (-)

Genomic View for CYP11A1 Gene

Genes around CYP11A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for CYP11A1 Gene

P05108:
  • RQCLGRR
  • RLFRTKTW
  • VLHRRIK
  • EIPSPGDNGW
  • RSVLVKGCQ
  • VPLLKASIKETLRLHPI
  • YTQNFYW
  • DPEDVALLF
  • TEMLAGGVDTTSM
  • GVRQCLG
  • NLYHFWR
  • MFHTSVP
  • FRNLGFGWGVRQC
  • IPAKTLVQV
  • PERFLIPPW
  • GRRIAELEMT
  • AGGVDTT
  • LQWHLYE
  • MLRAEVLAAR
  • NFQKYGPIYREKLGN

Post-translational modifications for CYP11A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CYP11A1 Gene

Gene Families for CYP11A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for CYP11A1 Gene

InterPro:
Blocks:
  • Mitochondrial P450 clan signature

Suggested Antigen Peptide Sequences for CYP11A1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450(scc) (CP11A_HUMAN)
  • Cytochrome P450 family 11 subfamily A polypeptide 1 (Q2HZF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05108

UniProtKB/Swiss-Prot:

CP11A_HUMAN :
  • Belongs to the cytochrome P450 family.
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 Function:
A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal (PubMed:21636783). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:21636783).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + 6 H(+) + 3 O2 + 6 reduced [adrenodoxin] = 4-methylpentanal + 4 H2O + 6 oxidized [adrenodoxin] + pregnenolone; Xref=Rhea:RHEA:35739, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16113, ChEBI:CHEBI:16581, ChEBI:CHEBI:17998, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; EC=1.14.15.6; Evidence={ECO:0000269|PubMed:21636783};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 22R-hydroxycholesterol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:34335, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16113, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:67237; Evidence={ECO:0000269|PubMed:21636783};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=22R-hydroxycholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = (20R,22R)-20,22-dihydroxycholesterol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:34339, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:1294, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:67237; Evidence={ECO:0000269|PubMed:21636783};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(20R,22R)-20,22-dihydroxycholesterol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 4-methylpentanal + 2 H2O + 2 oxidized [adrenodoxin] + pregnenolone; Xref=Rhea:RHEA:34343, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:1294, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16581, ChEBI:CHEBI:17998, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; Evidence={ECO:0000269|PubMed:21636783};.
UniProtKB/Swiss-Prot Induction:
By 8-bromo cyclic AMP.

Enzyme Numbers (IUBMB) for CYP11A1 Gene

Phenotypes From GWAS Catalog for CYP11A1 Gene

Gene Ontology (GO) - Molecular Function for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 25464930
GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP11A1: view
genes like me logo Genes that share phenotypes with CYP11A1: view

Human Phenotype Ontology for CYP11A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11A1 Gene

MGI Knock Outs for CYP11A1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP11A1

No data available for Transcription Factor Targets and HOMER Transcription for CYP11A1 Gene

Localization for CYP11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11A1 Gene

Mitochondrion inner membrane. Peripheral membrane protein. Note=Localizes to the matrix side of the mitochondrion inner membrane. {ECO:0000250 UniProtKB:P14137}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP11A1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS --
GO:0005743 mitochondrial inner membrane IEA,ISS --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CYP11A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP11A1 Gene

Pathways & Interactions for CYP11A1 Gene

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

Pathways by source for CYP11A1 Gene

UniProtKB/Swiss-Prot P05108-CP11A_HUMAN

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

SIGNOR curated interactions for CYP11A1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CYP11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process IEA,TAS --
GO:0006704 glucocorticoid biosynthetic process IBA 21873635
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with CYP11A1: view

Drugs & Compounds for CYP11A1 Gene

(55) Drugs for CYP11A1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminoglutethimide Approved, Investigational Pharma Target, inhibitor 2
Digoxin Approved Pharma Enzyme, inhibitor Na+/K+ ATPase inhibitor 188
Testosterone Approved, Investigational Pharma Enzyme, inhibitor Endogenous androgen receptor agonist 711
Digitoxin Approved, Investigational Pharma Enzyme, inhibitor 3
Glutethimide Approved, Illicit Pharma Enzyme, inhibitor 0

(49) Additional Compounds for CYP11A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 5,7-Cholestadien-3-beta-ol
  • 5,7-Cholestadien-3beta-ol
  • Provitamin D3
  • Cholesta-5,7-dien-3beta-ol
434-16-2
17a,20a-Dihydroxycholesterol
  • 17a,21-Dihydroxypregnenolone
  • 17Α,21-dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17, 21-Dihydroxypregnenolone
  • 3Β,17α,21-trihydroxypregnenone
1167-48-2
17a-Hydroxypregnenolone
  • (3beta)-3,17-Dihydroxypregn-5-en-20-one
  • 17-Hydroxypregnenolone
  • 5-Pregnen-3beta,17alpha-diol-20-one
  • (3b)-3,17-Dihydroxypregn-5-en-20-one
  • (3Β)-3,17-dihydroxypregn-5-en-20-one
387-79-1
20a,22b-Dihydroxycholesterol
  • 20alpha,22beta-Dihydroxycholesterol
15234-55-6
22b-Hydroxycholesterol
  • (3beta,22R)-Cholest-5-ene-3,22-diol
  • 22beta-Hydroxycholesterol
  • 22R-Hydroxycholesterol
  • Cholest-5-en-3beta,22R-diol
  • (22R)-22-Hydroxycholesterol
22348-64-7
genes like me logo Genes that share compounds with CYP11A1: view

Transcripts for CYP11A1 Gene

mRNA/cDNA for CYP11A1 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP11A1

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

Expression for CYP11A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x47.1).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB and MOPED for CYP11A1 Gene



Protein tissue co-expression partners for CYP11A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP11A1

SOURCE GeneReport for Unigene cluster for CYP11A1 Gene:

Hs.303980

Evidence on tissue expression from TISSUES for CYP11A1 Gene

  • Nervous system(4.8)
  • Adrenal gland(4)
  • Blood(2.4)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • blood
  • blood vessel
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CYP11A1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CYP11A1 29
  • 98.91 (n)
Dog
(Canis familiaris)
Mammalia CYP11A1 29 30
  • 85.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP11A1 29 30
  • 81.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp11a1 29
  • 80.31 (n)
Mouse
(Mus musculus)
Mammalia Cyp11a1 29 16 30
  • 80.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYP11A1 30
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP11A1 30
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYP11A1 29 30
  • 64.06 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495360 29
  • 57.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC563363 29
  • 57.82 (n)
CYP11A1 (2 of 2) 30
  • 46 (a)
OneToMany
cyp11a1 30
  • 46 (a)
OneToMany
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11583 29
Fruit Fly
(Drosophila melanogaster)
Insecta dib 30
  • 24 (a)
ManyToMany
shd 30
  • 23 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea cyp-44A1 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 22 (a)
OneToMany
Species where no ortholog for CYP11A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYP11A1: view image
Alliance of Genome Resources:
Additional Orthologs for CYP11A1

Paralogs for CYP11A1 Gene

Paralogs for CYP11A1 Gene

(4) SIMAP similar genes for CYP11A1 Gene using alignment to 8 proteins:

  • CP11A_HUMAN
  • C9JPU9_HUMAN
  • C9JXV4_HUMAN
  • E7EPP8_HUMAN
  • F5H102_HUMAN
  • H3BS93_HUMAN
  • H3BSZ1_HUMAN
  • Q2HZF3_HUMAN
genes like me logo Genes that share paralogs with CYP11A1: view

Variants for CYP11A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP11A1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
17516 Pathogenic: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 74,343,803(-) A/ACGTCCC
NM_000781.3(CYP11A1):c.809_814dup (p.Val272_Ile273insGlyAsp)
INFRAME_INSERTION
17521 Pathogenic: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 74,345,041(-) T/TA
NM_000781.3(CYP11A1):c.625+2dup
SPLICE_DONOR
885038 Uncertain Significance: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 74,348,045(-) C/T
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser)
MISSENSE_VARIANT,FIVE_PRIME_UTR
885039 Uncertain Significance: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 74,367,561(-) G/A
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys)
MISSENSE
885040 Uncertain Significance: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 74,367,563(-) G/A
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP11A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv28469 CNV gain 19812545
esv3636903 CNV loss 21293372
nsv1121512 CNV deletion 24896259
nsv510938 OTHER complex 20534489
nsv569972 CNV gain 21841781
nsv569973 CNV gain+loss 21841781
nsv984091 CNV duplication 23825009

Variation tolerance for CYP11A1 Gene

Residual Variation Intolerance Score: 14.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP11A1 Gene

Human Gene Mutation Database (HGMD)
CYP11A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11A1
Leiden Open Variation Database (LOVD)
CYP11A1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CYP11A1 Gene

MalaCards: The human disease database

(42) MalaCards diseases for CYP11A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for CYP11A1

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No data available for Genatlas for CYP11A1 Gene

Publications for CYP11A1 Gene

  1. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. (PMID: 18182448) Kim CJ … Miller WL (The Journal of clinical endocrinology and metabolism 2008) 3 4 22 72
  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 (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 72
  3. 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 WL (The Journal of clinical endocrinology and metabolism 2001) 3 4 22 72
  4. Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk. (PMID: 20199803) Terry K … De Vivo I (Gynecologic oncology 2010) 3 22 40
  5. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. (PMID: 18725155) Pusalkar M … Maitra A (Fertility and sterility 2009) 3 22 40

Products for CYP11A1 Gene

Sources for CYP11A1 Gene