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P05108 (CP11A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 164. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cholesterol side-chain cleavage enzyme, mitochondrial

EC=1.14.15.6
Alternative name(s):
CYPXIA1
Cholesterol desmolase
Cytochrome P450 11A1
Cytochrome P450(scc)
Gene names
Name:CYP11A1
Synonyms:CYP11A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length521 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. Ref.10

Catalytic activity

Cholesterol + 6 reduced adrenodoxin + 3 O2 = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H2O. Ref.10

Cofactor

Heme group. Ref.10

Pathway

Lipid metabolism; C21-steroid hormone metabolism. Ref.10

Subunit structure

Interacts with FDX1/adrenodoxin. Ref.10

Subcellular location

Mitochondrion membrane.

Induction

By 8-bromo cyclic AMP. Ref.8

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.14 Ref.15 Ref.16 Ref.17

Sequence similarities

Belongs to the cytochrome P450 family.

Ontologies

Keywords
   Biological processCholesterol metabolism
Lipid metabolism
Steroid metabolism
Steroidogenesis
Sterol metabolism
   Cellular componentMembrane
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransit peptide
   LigandHeme
Iron
Metal-binding
   Molecular functionMonooxygenase
Oxidoreductase
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processC21-steroid hormone biosynthetic process

Inferred from direct assay Ref.13Ref.16Ref.10. Source: UniProtKB

Leydig cell differentiation

Inferred from electronic annotation. Source: Ensembl

Schwann cell differentiation

Inferred from electronic annotation. Source: Ensembl

biphenyl metabolic process

Inferred from electronic annotation. Source: Ensembl

cellular response to antibiotic

Inferred from electronic annotation. Source: Ensembl

cellular response to cAMP

Inferred from electronic annotation. Source: Ensembl

cellular response to cadmium ion

Inferred from electronic annotation. Source: Ensembl

cellular response to fibroblast growth factor stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to follicle-stimulating hormone stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to interleukin-1

Inferred from electronic annotation. Source: Ensembl

cellular response to lipopolysaccharide

Inferred from electronic annotation. Source: Ensembl

cellular response to peptide hormone stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to transforming growth factor beta stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to tumor necrosis factor

Inferred from electronic annotation. Source: Ensembl

cerebellum development

Inferred from electronic annotation. Source: Ensembl

cholesterol metabolic process

Inferred from direct assay Ref.10. Source: UniProtKB

dibenzo-p-dioxin metabolic process

Inferred from electronic annotation. Source: Ensembl

estrogen biosynthetic process

Inferred from electronic annotation. Source: Ensembl

fractalkine metabolic process

Inferred from electronic annotation. Source: Ensembl

granulosa cell differentiation

Inferred from electronic annotation. Source: Ensembl

hippocampus development

Inferred from electronic annotation. Source: Ensembl

maternal process involved in female pregnancy

Inferred from electronic annotation. Source: Ensembl

mating behavior

Inferred from electronic annotation. Source: Ensembl

phenol-containing compound metabolic process

Inferred from electronic annotation. Source: Ensembl

phthalate metabolic process

Inferred from electronic annotation. Source: Ensembl

progesterone biosynthetic process

Inferred from electronic annotation. Source: Ensembl

response to L-ascorbic acid

Inferred from electronic annotation. Source: Ensembl

response to alkaloid

Inferred from electronic annotation. Source: Ensembl

response to corticosterone

Inferred from electronic annotation. Source: Ensembl

response to drug

Inferred from electronic annotation. Source: Ensembl

response to fungicide

Inferred from electronic annotation. Source: Ensembl

response to gamma radiation

Inferred from electronic annotation. Source: Ensembl

response to genistein

Inferred from electronic annotation. Source: Ensembl

response to hydrogen peroxide

Inferred from electronic annotation. Source: Ensembl

response to insecticide

Inferred from electronic annotation. Source: Ensembl

response to salt stress

Inferred from electronic annotation. Source: Ensembl

response to vitamin E

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

steroid metabolic process

Traceable author statement. Source: Reactome

sterol metabolic process

Traceable author statement. Source: Reactome

testosterone biosynthetic process

Inferred from electronic annotation. Source: Ensembl

vitamin D metabolic process

Inferred from sequence or structural similarity. Source: UniProtKB

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentmitochondrial crista

Inferred from electronic annotation. Source: Ensembl

mitochondrial matrix

Traceable author statement. Source: Reactome

mitochondrion

Inferred from sequence or structural similarity. Source: UniProtKB

perikaryon

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncholesterol binding

Inferred from electronic annotation. Source: Ensembl

cholesterol monooxygenase (side-chain-cleaving) activity

Inferred from direct assay Ref.13Ref.16Ref.10. Source: UniProtKB

heme binding

Inferred from direct assay Ref.10. Source: UniProtKB

iron ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P05108-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P05108-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3939Mitochondrion
Chain40 – 521482Cholesterol side-chain cleavage enzyme, mitochondrial
PRO_0000003585

Sites

Metal binding4621Iron (heme axial ligand)

Natural variations

Alternative sequence1 – 158158Missing in isoform 2.
VSP_045695
Natural variant1411L → W in AICSR; reduced activity. Ref.16
VAR_065241
Natural variant1891A → V in AICSR; no loss of activity. Ref.14
VAR_016949
Natural variant2221L → P in AICSR; markedly reduced activity. Ref.17
VAR_065242
Natural variant2711D → DGD in AICSR; complete loss of activity.
VAR_016950
Natural variant3141E → K. Ref.11
Corresponds to variant rs6161 [ dbSNP | Ensembl ].
VAR_013944
Natural variant3531R → W in AICSR; loss of activity. Ref.14
VAR_016951
Natural variant3591A → V in AICSR; markedly reduced activity. Ref.15
VAR_065243
Natural variant4151V → E in AICSR; complete loss of activity. Ref.16
VAR_065244

Experimental info

Sequence conflict161C → Y in AAA52162. Ref.1
Sequence conflict2741F → L in CAA28965. Ref.2
Sequence conflict2831N → H in AAA36404. Ref.9
Sequence conflict3011I → M in AAA52162. Ref.1
Sequence conflict3011I → M in AAA36404. Ref.9
Sequence conflict5051K → E in BAG51810. Ref.3

Secondary structure

.......................................................................... 521
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 3, 2007. Version 2.
Checksum: AB0501E7A5665D8B

FASTA52160,102
        10         20         30         40         50         60 
MLAKGLPPRS VLVKGCQTFL SAPREGLGRL RVPTGEGAGI STRSPRPFNE IPSPGDNGWL 

        70         80         90        100        110        120 
NLYHFWRETG THKVHLHHVQ NFQKYGPIYR EKLGNVESVY VIDPEDVALL FKSEGPNPER 

       130        140        150        160        170        180 
FLIPPWVAYH QYYQRPIGVL LKKSAAWKKD RVALNQEVMA PEATKNFLPL LDAVSRDFVS 

       190        200        210        220        230        240 
VLHRRIKKAG SGNYSGDISD DLFRFAFESI TNVIFGERQG MLEEVVNPEA QRFIDAIYQM 

       250        260        270        280        290        300 
FHTSVPMLNL PPDLFRLFRT KTWKDHVAAW DVIFSKADIY TQNFYWELRQ KGSVHHDYRG 

       310        320        330        340        350        360 
ILYRLLGDSK MSFEDIKANV TEMLAGGVDT TSMTLQWHLY EMARNLKVQD MLRAEVLAAR 

       370        380        390        400        410        420 
HQAQGDMATM LQLVPLLKAS IKETLRLHPI SVTLQRYLVN DLVLRDYMIP AKTLVQVAIY 

       430        440        450        460        470        480 
ALGREPTFFF DPENFDPTRW LSKDKNITYF RNLGFGWGVR QCLGRRIAEL EMTIFLINML 

       490        500        510        520 
ENFRVEIQHL SDVGTTFNLI LMPEKPISFT FWPFNQEATQ Q 

« Hide

Isoform 2 [UniParc].

Checksum: 8CA4719AAC24EF8B
Show »

FASTA36342,152

References

« Hide 'large scale' references
[1]"Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta."
Chung B.-C., Matteson K.J., Voutilainen R., Mohandas T.K., Miller W.L.
Proc. Natl. Acad. Sci. U.S.A. 83:8962-8966(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Gene structure of human cytochrome P-450(SCC), cholesterol desmolase."
Morohashi K., Sogawa K., Omura T., Fujii-Kuriyama Y.
J. Biochem. 101:879-887(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Placenta.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta and Testis.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]Chung B.-C.
Submitted (JAN-1989) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-89.
[8]"Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein."
Hu M.C., Guo I.C., Lin J.H., Chung B.-C.
Biochem. J. 274:813-817(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 51-54, INDUCTION.
Tissue: Choriocarcinoma.
[9]"Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes."
Matteson K.J., Chung B.-C., Urdea M.S., Miller W.L.
Endocrinology 118:1296-1305(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 283-521 (ISOFORM 1).
[10]"Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system."
Strushkevich N., MacKenzie F., Cherkesova T., Grabovec I., Usanov S., Park H.W.
Proc. Natl. Acad. Sci. U.S.A. 108:10139-10143(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 41-521 IN COMPLEXES WITH FDX1; HEME AND CHOLESTEROL, FUNCTION, CATALYTIC ACTIVITY, COFACTOR, PATHWAY, INTERACTION WITH FDX1.
[11]"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LYS-314.
[12]Erratum
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 23:373-373(1999)
[13]"Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency."
Tajima T., Fujieda K., Kouda N., Nakae J., Miller W.L.
J. Clin. Endocrinol. Metab. 86:3820-3825(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AICSR GLY-ASP-271 INS.
[14]"Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans."
Katsumata N., Ohtake M., Hojo T., Ogawa E., Hara T., Sato N., Tanaka T.
J. Clin. Endocrinol. Metab. 87:3808-3813(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AICSR VAL-189 AND TRP-353.
[15]"Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum."
al Kandari H., Katsumata N., Alexander S., Rasoul M.A.
J. Clin. Endocrinol. Metab. 91:2821-2826(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AICSR VAL-359, CHARACTERIZATION OF VARIANT AICSR VAL-359.
[16]"Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc."
Kim C.J., Lin L., Huang N., Quigley C.A., Avruskin T.W., Achermann J.C., Miller W.L.
J. Clin. Endocrinol. Metab. 93:696-702(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AICSR TRP-141 AND GLU-415, CHARACTERIZATION OF VARIANTS AICSR TRP-141 AND GLU-415.
[17]"A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient."
Rubtsov P., Karmanov M., Sverdlova P., Spirin P., Tiulpakov A.
J. Clin. Endocrinol. Metab. 94:936-939(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AICSR PRO-222, CHARACTERIZATION OF VARIANT AICSR PRO-222.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M14565 mRNA. Translation: AAA52162.1.
X05367 expand/collapse EMBL AC list , X05368, X05369, X05370, X05371, X05372, X05373, X05374 Genomic DNA. Translation: CAA28965.1.
AK056794 mRNA. Translation: BAG51810.1.
AK292300 mRNA. Translation: BAF84989.1.
AC090826 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99341.1.
CH471136 Genomic DNA. Translation: EAW99342.1.
BC032329 mRNA. Translation: AAH32329.1.
X14257 Genomic DNA. Translation: CAA32471.1.
M28253 mRNA. Translation: AAA36404.1.
CCDSCCDS32291.1. [P05108-1]
CCDS45303.1. [P05108-2]
PIRA25922.
RefSeqNP_000772.2. NM_000781.2. [P05108-1]
NP_001093243.1. NM_001099773.1. [P05108-2]
UniGeneHs.303980.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3N9YX-ray2.10A/B41-521[»]
3N9ZX-ray2.17A/B41-521[»]
3NA0X-ray2.50A/B44-514[»]
3NA1X-ray2.25A/B41-521[»]
ProteinModelPortalP05108.
SMRP05108. Positions 44-514.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107955. 4 interactions.
IntActP05108. 4 interactions.
MINTMINT-1200919.
STRING9606.ENSP00000268053.

Chemistry

ChEMBLCHEMBL2033.
DrugBankDB00357. Aminoglutethimide.
DB00169. Cholecalciferol.
DB00501. Cimetidine.
DB00257. Clotrimazole.
DB01396. Digitoxin.
DB00390. Digoxin.
DB00603. Medroxyprogesterone.
DB01092. Ouabain.
DB00396. Progesterone.
DB00624. Testosterone.
DB01108. Trilostane.
GuidetoPHARMACOLOGY1358.

PTM databases

PhosphoSiteP05108.

Polymorphism databases

DMDM143811381.

Proteomic databases

PaxDbP05108.
PRIDEP05108.

Protocols and materials databases

DNASU1583.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268053; ENSP00000268053; ENSG00000140459. [P05108-1]
ENST00000358632; ENSP00000351455; ENSG00000140459. [P05108-2]
ENST00000419019; ENSP00000405488; ENSG00000140459. [P05108-2]
GeneID1583.
KEGGhsa:1583.
UCSCuc002axs.2. human. [P05108-1]

Organism-specific databases

CTD1583.
GeneCardsGC15M074630.
HGNCHGNC:2590. CYP11A1.
HPAHPA016436.
MIM118485. gene.
613743. phenotype.
neXtProtNX_P05108.
Orphanet168558. 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency.
289548. Inherited isolated adrenal insufficiency due to CYP11A1 deficiency.
PharmGKBPA27089.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000013161.
HOVERGENHBG051098.
InParanoidP05108.
KOK00498.
OMAYQRPIGV.
OrthoDBEOG7MKW5S.
PhylomeDBP05108.
TreeFamTF105094.

Enzyme and pathway databases

BioCycMetaCyc:HS06719-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_15493. Steroid hormones.
SABIO-RKP05108.
UniPathwayUPA00229.

Gene expression databases

ArrayExpressP05108.
BgeeP05108.
CleanExHS_CYP11A1.
GenevestigatorP05108.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00463. EP450I.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCYP11A1. human.
EvolutionaryTraceP05108.
GeneWikiCholesterol_side-chain_cleavage_enzyme.
GenomeRNAi1583.
NextBio35469259.
PROP05108.
SOURCESearch...

Entry information

Entry nameCP11A_HUMAN
AccessionPrimary (citable) accession number: P05108
Secondary accession number(s): A8K8D5 expand/collapse secondary AC list , B3KPU8, G3XAD7, Q15081, Q16805, Q8N1A7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: April 3, 2007
Last modified: July 9, 2014
This is version 164 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM