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Protein

Cholesterol side-chain cleavage enzyme, mitochondrial

Gene

CYP11A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.1 Publication

Catalytic activityi

Cholesterol + 6 reduced adrenodoxin + 3 O2 + 6 H+ = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H2O.1 Publication

Cofactori

heme1 Publication

Pathwayi: C21-steroid hormone metabolism

This protein is involved in the pathway C21-steroid hormone metabolism, which is part of Lipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway C21-steroid hormone metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi462Iron (heme axial ligand)1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Steroidogenesis, Sterol metabolism

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06719-MONOMER.
ZFISH:HS06719-MONOMER.
BRENDAi1.14.15.6. 2681.
ReactomeiR-HSA-196108. Pregnenolone biosynthesis.
R-HSA-211976. Endogenous sterols.
R-HSA-5579026. Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR).
SABIO-RKP05108.
UniPathwayiUPA00229.

Chemistry databases

SwissLipidsiSLP:000001196.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:CYP11A1
Synonyms:CYP11A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:2590. CYP11A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613743
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065241141L → W in AICSR; reduced activity. 1 PublicationCorresponds to variant rs121912813dbSNPEnsembl.1
Natural variantiVAR_016949189A → V in AICSR; no loss of activity. 1 PublicationCorresponds to variant rs121912811dbSNPEnsembl.1
Natural variantiVAR_065242222L → P in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant rs387906601dbSNPEnsembl.1
Natural variantiVAR_016950271D → DGD in AICSR; complete loss of activity. 1 Publication1
Natural variantiVAR_016951353R → W in AICSR; loss of activity. 1 PublicationCorresponds to variant rs72547508dbSNPEnsembl.1
Natural variantiVAR_065243359A → V in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant rs121912812dbSNPEnsembl.1
Natural variantiVAR_065244415V → E in AICSR; complete loss of activity. 1 PublicationCorresponds to variant rs121912814dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1583.
MalaCardsiCYP11A1.
MIMi613743. phenotype.
OpenTargetsiENSG00000140459.
Orphaneti168558. 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency.
289548. Inherited isolated adrenal insufficiency due to CYP11A1 deficiency.
PharmGKBiPA27089.

Chemistry databases

ChEMBLiCHEMBL2033.
DrugBankiDB00357. Aminoglutethimide.
DB00169. Cholecalciferol.
DB00882. Clomifene.
DB00257. Clotrimazole.
DB01234. Dexamethasone.
DB01396. Digitoxin.
DB00390. Digoxin.
DB00917. Dinoprostone.
DB01437. Glutethimide.
DB01026. Ketoconazole.
DB00338. Omeprazole.
DB01232. Saquinavir.
DB00857. Terbinafine.
DB00624. Testosterone.

Polymorphism and mutation databases

BioMutaiCYP11A1.
DMDMi143811381.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 39MitochondrionAdd BLAST39
ChainiPRO_000000358540 – 521Cholesterol side-chain cleavage enzyme, mitochondrialAdd BLAST482

Proteomic databases

EPDiP05108.
PaxDbiP05108.
PeptideAtlasiP05108.
PRIDEiP05108.

PTM databases

iPTMnetiP05108.
PhosphoSitePlusiP05108.

Expressioni

Inductioni

By 8-bromo cyclic AMP.1 Publication

Gene expression databases

BgeeiENSG00000140459.
CleanExiHS_CYP11A1.
ExpressionAtlasiP05108. baseline and differential.
GenevisibleiP05108. HS.

Organism-specific databases

HPAiHPA016436.

Interactioni

Subunit structurei

Interacts with FDX1/adrenodoxin.1 Publication

Protein-protein interaction databases

BioGridi107955. 4 interactors.
IntActiP05108. 4 interactors.
MINTiMINT-1200919.
STRINGi9606.ENSP00000268053.

Chemistry databases

BindingDBiP05108.

Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi48 – 50Combined sources3
Helixi58 – 68Combined sources11
Helixi71 – 73Combined sources3
Helixi74 – 85Combined sources12
Beta strandi87 – 93Combined sources7
Beta strandi96 – 101Combined sources6
Helixi104 – 112Combined sources9
Helixi124 – 132Combined sources9
Helixi139 – 141Combined sources3
Helixi144 – 158Combined sources15
Helixi161 – 164Combined sources4
Helixi167 – 189Combined sources23
Beta strandi190 – 196Combined sources7
Helixi199 – 215Combined sources17
Beta strandi223 – 225Combined sources3
Helixi228 – 244Combined sources17
Helixi245 – 247Combined sources3
Helixi252 – 258Combined sources7
Helixi260 – 291Combined sources32
Helixi301 – 307Combined sources7
Helixi313 – 328Combined sources16
Helixi330 – 344Combined sources15
Helixi346 – 362Combined sources17
Turni363 – 365Combined sources3
Helixi367 – 370Combined sources4
Helixi375 – 387Combined sources13
Beta strandi390 – 397Combined sources8
Beta strandi402 – 404Combined sources3
Beta strandi407 – 409Combined sources3
Beta strandi414 – 418Combined sources5
Helixi419 – 423Combined sources5
Turni426 – 428Combined sources3
Beta strandi429 – 431Combined sources3
Helixi437 – 440Combined sources4
Turni449 – 451Combined sources3
Helixi458 – 460Combined sources3
Helixi465 – 482Combined sources18
Beta strandi483 – 486Combined sources4
Beta strandi495 – 505Combined sources11
Beta strandi509 – 513Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3N9YX-ray2.10A/B41-521[»]
3N9ZX-ray2.17A/B41-521[»]
3NA0X-ray2.50A/B44-514[»]
3NA1X-ray2.25A/B41-521[»]
ProteinModelPortaliP05108.
SMRiP05108.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP05108.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0159. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000013161.
HOVERGENiHBG051098.
InParanoidiP05108.
KOiK00498.
OMAiKDHVAAW.
OrthoDBiEOG091G04MV.
PhylomeDBiP05108.
TreeFamiTF105094.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR033283. CYP11A1.
IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PANTHERiPTHR24279:SF3. PTHR24279:SF3. 1 hit.
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P05108-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MLAKGLPPRS VLVKGCQTFL SAPREGLGRL RVPTGEGAGI STRSPRPFNE
60 70 80 90 100
IPSPGDNGWL NLYHFWRETG THKVHLHHVQ NFQKYGPIYR EKLGNVESVY
110 120 130 140 150
VIDPEDVALL FKSEGPNPER FLIPPWVAYH QYYQRPIGVL LKKSAAWKKD
160 170 180 190 200
RVALNQEVMA PEATKNFLPL LDAVSRDFVS VLHRRIKKAG SGNYSGDISD
210 220 230 240 250
DLFRFAFESI TNVIFGERQG MLEEVVNPEA QRFIDAIYQM FHTSVPMLNL
260 270 280 290 300
PPDLFRLFRT KTWKDHVAAW DVIFSKADIY TQNFYWELRQ KGSVHHDYRG
310 320 330 340 350
ILYRLLGDSK MSFEDIKANV TEMLAGGVDT TSMTLQWHLY EMARNLKVQD
360 370 380 390 400
MLRAEVLAAR HQAQGDMATM LQLVPLLKAS IKETLRLHPI SVTLQRYLVN
410 420 430 440 450
DLVLRDYMIP AKTLVQVAIY ALGREPTFFF DPENFDPTRW LSKDKNITYF
460 470 480 490 500
RNLGFGWGVR QCLGRRIAEL EMTIFLINML ENFRVEIQHL SDVGTTFNLI
510 520
LMPEKPISFT FWPFNQEATQ Q
Length:521
Mass (Da):60,102
Last modified:April 3, 2007 - v2
Checksum:iAB0501E7A5665D8B
GO
Isoform 2 (identifier: P05108-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.

Note: No experimental confirmation available.
Show »
Length:363
Mass (Da):42,152
Checksum:i8CA4719AAC24EF8B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16C → Y in AAA52162 (PubMed:3024157).Curated1
Sequence conflicti274F → L in CAA28965 (PubMed:3038854).Curated1
Sequence conflicti283N → H in AAA36404 (PubMed:2419119).Curated1
Sequence conflicti301I → M in AAA52162 (PubMed:3024157).Curated1
Sequence conflicti301I → M in AAA36404 (PubMed:2419119).Curated1
Sequence conflicti505K → E in BAG51810 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065241141L → W in AICSR; reduced activity. 1 PublicationCorresponds to variant rs121912813dbSNPEnsembl.1
Natural variantiVAR_016949189A → V in AICSR; no loss of activity. 1 PublicationCorresponds to variant rs121912811dbSNPEnsembl.1
Natural variantiVAR_065242222L → P in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant rs387906601dbSNPEnsembl.1
Natural variantiVAR_016950271D → DGD in AICSR; complete loss of activity. 1 Publication1
Natural variantiVAR_013944314E → K.1 PublicationCorresponds to variant rs6161dbSNPEnsembl.1
Natural variantiVAR_016951353R → W in AICSR; loss of activity. 1 PublicationCorresponds to variant rs72547508dbSNPEnsembl.1
Natural variantiVAR_065243359A → V in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant rs121912812dbSNPEnsembl.1
Natural variantiVAR_065244415V → E in AICSR; complete loss of activity. 1 PublicationCorresponds to variant rs121912814dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456951 – 158Missing in isoform 2. 1 PublicationAdd BLAST158

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M14565 mRNA. Translation: AAA52162.1.
X05367
, 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.
CCDSiCCDS32291.1. [P05108-1]
CCDS45303.1. [P05108-2]
PIRiA25922.
RefSeqiNP_000772.2. NM_000781.2. [P05108-1]
NP_001093243.1. NM_001099773.1. [P05108-2]
UniGeneiHs.303980.

Genome annotation databases

EnsembliENST00000268053; ENSP00000268053; ENSG00000140459. [P05108-1]
ENST00000358632; ENSP00000351455; ENSG00000140459. [P05108-2]
GeneIDi1583.
KEGGihsa:1583.
UCSCiuc002axs.3. human. [P05108-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M14565 mRNA. Translation: AAA52162.1.
X05367
, 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.
CCDSiCCDS32291.1. [P05108-1]
CCDS45303.1. [P05108-2]
PIRiA25922.
RefSeqiNP_000772.2. NM_000781.2. [P05108-1]
NP_001093243.1. NM_001099773.1. [P05108-2]
UniGeneiHs.303980.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3N9YX-ray2.10A/B41-521[»]
3N9ZX-ray2.17A/B41-521[»]
3NA0X-ray2.50A/B44-514[»]
3NA1X-ray2.25A/B41-521[»]
ProteinModelPortaliP05108.
SMRiP05108.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107955. 4 interactors.
IntActiP05108. 4 interactors.
MINTiMINT-1200919.
STRINGi9606.ENSP00000268053.

Chemistry databases

BindingDBiP05108.
ChEMBLiCHEMBL2033.
DrugBankiDB00357. Aminoglutethimide.
DB00169. Cholecalciferol.
DB00882. Clomifene.
DB00257. Clotrimazole.
DB01234. Dexamethasone.
DB01396. Digitoxin.
DB00390. Digoxin.
DB00917. Dinoprostone.
DB01437. Glutethimide.
DB01026. Ketoconazole.
DB00338. Omeprazole.
DB01232. Saquinavir.
DB00857. Terbinafine.
DB00624. Testosterone.
SwissLipidsiSLP:000001196.

PTM databases

iPTMnetiP05108.
PhosphoSitePlusiP05108.

Polymorphism and mutation databases

BioMutaiCYP11A1.
DMDMi143811381.

Proteomic databases

EPDiP05108.
PaxDbiP05108.
PeptideAtlasiP05108.
PRIDEiP05108.

Protocols and materials databases

DNASUi1583.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268053; ENSP00000268053; ENSG00000140459. [P05108-1]
ENST00000358632; ENSP00000351455; ENSG00000140459. [P05108-2]
GeneIDi1583.
KEGGihsa:1583.
UCSCiuc002axs.3. human. [P05108-1]

Organism-specific databases

CTDi1583.
DisGeNETi1583.
GeneCardsiCYP11A1.
HGNCiHGNC:2590. CYP11A1.
HPAiHPA016436.
MalaCardsiCYP11A1.
MIMi118485. gene.
613743. phenotype.
neXtProtiNX_P05108.
OpenTargetsiENSG00000140459.
Orphaneti168558. 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency.
289548. Inherited isolated adrenal insufficiency due to CYP11A1 deficiency.
PharmGKBiPA27089.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0159. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000119243.
HOGENOMiHOG000013161.
HOVERGENiHBG051098.
InParanoidiP05108.
KOiK00498.
OMAiKDHVAAW.
OrthoDBiEOG091G04MV.
PhylomeDBiP05108.
TreeFamiTF105094.

Enzyme and pathway databases

UniPathwayiUPA00229.
BioCyciMetaCyc:HS06719-MONOMER.
ZFISH:HS06719-MONOMER.
BRENDAi1.14.15.6. 2681.
ReactomeiR-HSA-196108. Pregnenolone biosynthesis.
R-HSA-211976. Endogenous sterols.
R-HSA-5579026. Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR).
SABIO-RKP05108.

Miscellaneous databases

ChiTaRSiCYP11A1. human.
EvolutionaryTraceiP05108.
GeneWikiiCholesterol_side-chain_cleavage_enzyme.
GenomeRNAii1583.
PROiP05108.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140459.
CleanExiHS_CYP11A1.
ExpressionAtlasiP05108. baseline and differential.
GenevisibleiP05108. HS.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR033283. CYP11A1.
IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PANTHERiPTHR24279:SF3. PTHR24279:SF3. 1 hit.
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCP11A_HUMAN
AccessioniPrimary (citable) accession number: P05108
Secondary accession number(s): A8K8D5
, B3KPU8, G3XAD7, Q15081, Q16805, Q8N1A7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: April 3, 2007
Last modified: November 2, 2016
This is version 186 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.