Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Cholesterol side-chain cleavage enzyme, mitochondrial

Gene

CYP11A1

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

Functioni

Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone, the precursor of most steroid hormones.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)Combined sources1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processCholesterol metabolism, Lipid metabolism, Steroid metabolism, Steroidogenesis, Sterol metabolism
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc: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-RKiP05108
SIGNORiP05108
UniPathwayi
UPA00229

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

EuPathDBiHostDB:ENSG00000140459.17
HGNCiHGNC:2590 CYP11A1
MIMi118485 gene
neXtProtiNX_P05108

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

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 dbSNP:rs121912813EnsemblClinVar.1
Natural variantiVAR_016949189A → V in AICSR; no loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912811EnsemblClinVar.1
Natural variantiVAR_065242222L → P in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs387906601EnsemblClinVar.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 dbSNP:rs72547508EnsemblClinVar.1
Natural variantiVAR_065243359A → V in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121912812EnsemblClinVar.1
Natural variantiVAR_065244415V → E in AICSR; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912814EnsemblClinVar.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
DB02901 Dihydrotestosterone
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 – 39MitochondrionBy similarityAdd BLAST39
ChainiPRO_000000358540 – 521Cholesterol side-chain cleavage enzyme, mitochondrialAdd BLAST482

Proteomic databases

PaxDbiP05108
PeptideAtlasiP05108
PRIDEiP05108
ProteomicsDBi51794

PTM databases

iPTMnetiP05108
PhosphoSitePlusiP05108

Expressioni

Inductioni

By 8-bromo cyclic AMP.1 Publication

Gene expression databases

BgeeiENSG00000140459 Expressed in 98 organ(s), highest expression level in right adrenal gland
CleanExiHS_CYP11A1
ExpressionAtlasiP05108 baseline and differential
GenevisibleiP05108 HS

Organism-specific databases

HPAiHPA016436

Interactioni

Subunit structurei

Interacts with FDX1/adrenodoxin.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
NLGN3Q9NZ94-23EBI-7183136,EBI-16423037

Protein-protein interaction databases

BioGridi107955, 5 interactors
IntActiP05108, 5 interactors
MINTiP05108
STRINGi9606.ENSP00000268053

Chemistry databases

BindingDBiP05108

Structurei

Secondary structure

1521
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
GeneTreeiENSGT00900000140779
HOGENOMiHOG000013161
HOVERGENiHBG051098
InParanoidiP05108
KOiK00498
OMAiWGVRQCL
OrthoDBiEOG091G04MV
PhylomeDBiP05108
TreeFamiTF105094

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR033283 CYP11A1
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PANTHERiPTHR24279:SF3 PTHR24279:SF3, 1 hit
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

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

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JXV4C9JXV4_HUMAN
Cholesterol side-chain cleavage enz...
CYP11A1
168Annotation score:
E7EPP8E7EPP8_HUMAN
Cholesterol side-chain cleavage enz...
CYP11A1
414Annotation score:
H3BSZ1H3BSZ1_HUMAN
Cholesterol side-chain cleavage enz...
CYP11A1
227Annotation score:
C9JPU9C9JPU9_HUMAN
Cholesterol side-chain cleavage enz...
CYP11A1
96Annotation score:
H3BS93H3BS93_HUMAN
Cholesterol side-chain cleavage enz...
CYP11A1
26Annotation score:

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 dbSNP:rs121912813EnsemblClinVar.1
Natural variantiVAR_016949189A → V in AICSR; no loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912811EnsemblClinVar.1
Natural variantiVAR_065242222L → P in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs387906601EnsemblClinVar.1
Natural variantiVAR_016950271D → DGD in AICSR; complete loss of activity. 1 Publication1
Natural variantiVAR_013944314E → K1 PublicationCorresponds to variant dbSNP:rs6161EnsemblClinVar.1
Natural variantiVAR_016951353R → W in AICSR; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs72547508EnsemblClinVar.1
Natural variantiVAR_065243359A → V in AICSR; markedly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs121912812EnsemblClinVar.1
Natural variantiVAR_065244415V → E in AICSR; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121912814EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiCP11A_HUMAN
AccessioniPrimary (citable) accession number: P05108
Secondary accession number(s): A8K8D5
, B3KPU8, G3XAD7, Q15081, Q16805, Q8N1A7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: April 3, 2007
Last modified: September 12, 2018
This is version 198 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again