Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1583
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol CYP11A1   Gene   UCSC   Ensembl
Aliases CYP11A, CYPXIA1, P450SCC
Gene name cytochrome P450 family 11 subfamily A member 1
Alternate names cholesterol side-chain cleavage enzyme, mitochondrial, cholesterol 20-22 desmolase, cholesterol monooxygenase (side-chain cleaving), cytochrome P450 11A1, cytochrome P450 family 11 subfamily A polypeptide 1, cytochrome P450(scc), cytochrome P450, subfamily XIA ,
Gene location 15q24.1 (74367739: 74337761)     Exons: 10     NC_000015.10
Gene summary(Entrez) 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]
OMIM 118485

Protein Summary
Protein general information P05108  

Name: Cholesterol side chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc))

Length: 521  Mass: 60,102

Sequence MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWLNLYHFWRETGTHKVH
LHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPERFLIPPWVAYHQYYQRPIGVLLKKSAAWKKD
RVALNQEVMAPEATKNFLPLLDAVSRDFVSVLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEV
VNPEAQRFIDAIYQMFHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAARHQAQGDMATMLQLVP
LLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIYALGREPTFFFDPENFDPTRWLSKDKNITYF
RNLGFGWGVRQCLGRRIAELEMTIFLINMLENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ
Structural information
Interpro:  IPR033283 IPR001128 IPR017972 IPR002401
Prosite:   PS00086

Pfam:  		 PF00067

PDB:  		 3N9Y 3N9Z 3NA0 3NA1
PDBsum:   3N9Y 3N9Z 3NA0 3NA1
MINT:   1200919
STRING:   ENSP00000268053;
Other Databases GeneCards:  CYP11A1;  Malacards:  CYP11A1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005506 iron ion binding
 IEA molecular_function
GO:0005739 mitochondrion
 ISS cellular_component
GO:0005743 mitochondrial inner membr
ane
 IBA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process
GO:0006704 glucocorticoid biosynthet
ic process
 IBA biological_process
GO:0008203 cholesterol metabolic pro
cess
 ISS biological_process
GO:0008203 cholesterol metabolic pro
cess
 IMP biological_process
GO:0008203 cholesterol metabolic pro
cess
 IDA biological_process
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 ISS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0016125 sterol metabolic process
 TAS biological_process
GO:0016709 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, NAD(P)H as one donor,
and incorporation of one
atom of oxygen
 IBA molecular_function
GO:0020037 heme binding
 IDA molecular_function
GO:0034650 cortisol metabolic proces
s
 IBA biological_process
GO:0042359 vitamin D metabolic proce
ss
 ISS biological_process
GO:0044550 secondary metabolite bios
ynthetic process
 IBA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
 IBA biological_process
GO:0004497 monooxygenase activity
 IEA molecular_function
GO:0005506 iron ion binding
 IEA molecular_function
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005739 mitochondrion
 ISS cellular_component
GO:0005739 mitochondrion
 IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
 IBA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0006629 lipid metabolic process
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 IEA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IEA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IEA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process
GO:0006704 glucocorticoid biosynthet
ic process
 IBA biological_process
GO:0008202 steroid metabolic process
 IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
 ISS biological_process
GO:0008203 cholesterol metabolic pro
cess
 IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
 IMP biological_process
GO:0008203 cholesterol metabolic pro
cess
 IDA biological_process
GO:0008207 C21-steroid hormone metab
olic process
 IEA biological_process
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IEA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IEA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IEA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 ISS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0016020 membrane
 IEA cellular_component
GO:0016125 sterol metabolic process
 TAS biological_process
GO:0016491 oxidoreductase activity
 IEA molecular_function
GO:0016705 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n
 IEA molecular_function
GO:0016709 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, NAD(P)H as one donor,
and incorporation of one
atom of oxygen
 IBA molecular_function
GO:0020037 heme binding
 IEA molecular_function
GO:0020037 heme binding
 IDA molecular_function
GO:0031966 mitochondrial membrane
 IEA cellular_component
GO:0034650 cortisol metabolic proces
s
 IBA biological_process
GO:0042359 vitamin D metabolic proce
ss
 ISS biological_process
GO:0044550 secondary metabolite bios
ynthetic process
 IBA biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
 IBA biological_process
GO:0005739 mitochondrion
 ISS cellular_component
GO:0005743 mitochondrial inner membr
ane
 IBA cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0005759 mitochondrial matrix
 TAS cellular_component
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 IDA biological_process
GO:0006700 C21-steroid hormone biosy
nthetic process
 TAS biological_process
GO:0006704 glucocorticoid biosynthet
ic process
 IBA biological_process
GO:0008203 cholesterol metabolic pro
cess
 ISS biological_process
GO:0008203 cholesterol metabolic pro
cess
 IMP biological_process
GO:0008203 cholesterol metabolic pro
cess
 IDA biological_process
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 ISS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 IDA molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0008386 cholesterol monooxygenase
(side-chain-cleaving) ac
tivity
 TAS molecular_function
GO:0016125 sterol metabolic process
 TAS biological_process
GO:0016709 oxidoreductase activity,
acting on paired donors,
with incorporation or red
uction of molecular oxyge
n, NAD(P)H as one donor,
and incorporation of one
atom of oxygen
 IBA molecular_function
GO:0020037 heme binding
 IDA molecular_function
GO:0034650 cortisol metabolic proces
s
 IBA biological_process
GO:0042359 vitamin D metabolic proce
ss
 ISS biological_process
GO:0044550 secondary metabolite bios
ynthetic process
 IBA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
 IBA biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa04925  Aldosterone synthesis and secretion

Diseases

Associated diseases References
Adrenal insufficiency OMIM: 118485
Autism PMID: 19598235
Cancer PMID: 16195240
Celiac disease PMID: 19240061
Congenital adrenal hyperplasia PMID: 21159840
Endometrial cancer PMID: 20199803
Endometriosis PMID: 19001523
Hyperandrogenism PMID: 9147642
Hyperandrogenism PMID: 18725155
Hypertension PMID: 19197249
Late-onset adrenal insufficiency PMID: 19116240
Ovarian hyperstimulation syndrome (OHSS) PMID: 16391898
Penoscrotal hypospadias PMID: 22968487
Polycystic ovary syndrome (PCOS) PMID: 9147642
Premature ovarian failure ( POF) PMID: 22699877
Endometriosis INFBASE19001523
Sertoli cell-only syndrome (SCOS) PMID: 18082732
Spermatogenetic defects PMID: 18082732

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19001523 Endometrio
sis

StAR
side chain cleavage P450
3beta-hydroxysteroid-dehydrogenase-2
17-hydroxylase/17-20-lyase
aromatase
SF1
COUP-TFII
WT1
 Show abstract