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CYP11A1 (cytochrome P450 family 11 subfamily A member 1)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1583
Gene nameGene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 11 subfamily A member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CYP11A1
SynonymsGene synonyms aliases
CYP11A, CYPXIA1, P450SCC
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.1
SummarySummary of gene provided in NCBI Entrez 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 local
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs6161 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs72547508 G>A Pathogenic Missense variant, coding sequence variant
rs121912811 G>A Pathogenic Missense variant, coding sequence variant
rs121912812 G>A Pathogenic Missense variant, coding sequence variant
rs121912813 A>C Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT483692 hsa-miR-4433b-3p PAR-CLIP 23592263
MIRT483691 hsa-miR-3677-5p PAR-CLIP 23592263
MIRT483690 hsa-miR-6890-5p PAR-CLIP 23592263
MIRT483689 hsa-miR-342-5p PAR-CLIP 23592263
MIRT483688 hsa-miR-4664-5p PAR-CLIP 23592263
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
CREB1 Unknown 11057754
FOXL2 Repression 21862621
GATA6 Activation 15284005
GRHL1 Unknown 18004979
JUN Unknown 11057754
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 25464930
GO:0005739 Component Mitochondrion ISS
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0005743 Component Mitochondrial inner membrane ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P05108
Protein name Cholesterol side-chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc))
Protein 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, nam
PDB 3N9Y , 3N9Z , 3NA0 , 3NA1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450
52 → 511
Cytochrome P450
 Domain
Sequence
Sequence length 521
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome 		  Pregnenolone biosynthesis
Endogenous sterols
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
46, xy disorder of sex development 46, XY Disorders of Sex Development rs387906750, rs797044460, rs387906751, rs13222, rs398122815 11502818
46, xy sex reversal 46,XY Sex Reversal 3 rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215 11502818
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Unknown
Disease name Disease term dbSNP ID References
46, xy disorder of sex development-adrenal insufficiency 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Adrenal calcification Adrenal calcification
Adrenal insufficiency, congenital, with 46 xy sex reversal Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Clonic seizures Clonic Seizures 19125849

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