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 name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 11 subfamily A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP11A1
Synonyms (NCBI Gene) Gene synonyms aliases
CYP11A, CYPXIA1, P450SCC
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.1
Summary Summary 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
SNPs SNP information provided by dbSNP.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(84)
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
Show/Hide all(12)
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
Show/Hide all(45)
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 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
118485 2590 ENSG00000140459
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
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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
46, XY disorder of sex development-adrenal insufficiency Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency N/A N/A GenCC
Congenital adrenal hyperplasia Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency N/A N/A ClinVar
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease 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