CYP11A1 (cytochrome P450 family 11 subfamily A member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1583
Gene name Cytochrome P450 family 11 subfamily A member 1
Gene symbol CYP11A1
Synonyms (NCBI Gene)
CYP11ACYPXIA1P450SCC
Chromosome 15
Chromosome location 15q24.1
Summary 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
SNPs SNP information provided by dbSNP.
13
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
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
miRNA miRNA information provided by mirtarbase database.
84
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CREB1 Unknown 11057754
FOXL2 Repression 21862621
GATA6 Activation 15284005
GRHL1 Unknown 18004979
JUN Unknown 11057754
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 25464930
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
118485 2590 ENSG00000140459
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY Pathogenic; Likely pathogenic rs755186597, rs121912811 RCV003989707
RCV005859471
Congenital adrenal hyperplasia Likely pathogenic rs2060625814 RCV005887565
Congenital Adrenal Insufficiency Likely pathogenic rs1284060395 RCV003335937
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency Pathogenic; Likely pathogenic rs1287871034, rs755186597, rs775102947, rs1021942880, rs762412759, rs757299093, rs886041121, rs1306288607, rs769950368, rs535782968, rs2548330961, rs2060619548, rs72547508, rs121912811, rs121912812
View all (7 more)		 RCV001536005
RCV001780600
RCV001794855
RCV004782843
RCV005008594
RCV000019071
RCV000327432
RCV005013083
RCV005003691
RCV005013173
RCV003992073
RCV000019068
RCV000019069
RCV000019070
RCV000019072
RCV000019073
RCV000019074
RCV000019075
RCV005004151
RCV000022465
RCV000778448
RCV001195422
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma association rs117987520 RCV005930112
Pulmonary disease, chronic obstructive, susceptibility to association rs117987520 RCV002508843
Show/Hide Text Mining Associations (54)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
46 XX Testicular Disorders of Sex Development Associate 29178636
Abnormalities Drug Induced Associate 11297612
Abortion Spontaneous Associate 30044146
Addison Disease Associate 26523528, 30299480, 31289154, 31917682, 34281122, 35418949, 36593618
Adenoma Inhibit 1535042
Adrenal Hyperplasia Congenital Associate 31917682
Adrenal Insufficiency Associate 22968487, 29178636, 29566378, 30299480, 34281122, 38320513
Adrenal Insufficiency Congenital Associate 29178636, 34281122
Adrenal Insufficiency Congenital With 46 Xy Sex Reversal Associate 18182448, 29566378, 31917682, 36593618
Adrenal Rest Tumor Associate 30299480, 31917682