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CYP11A1 cytochrome P450 family 11 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 1583, updated on 11-Sep-2019

Summary

Official Symbol
CYP11A1provided by HGNC
Official Full Name
cytochrome P450 family 11 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:2590
See related
Ensembl:ENSG00000140459 MIM:118485
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CYP11A; CYPXIA1; P450SCC
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 localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
Expression
Biased expression in adrenal (RPKM 261.9), placenta (RPKM 29.0) and 1 other tissue See more
Orthologs

Genomic context

See CYP11A1 in Genome Data Viewer
Location:
15q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (74337762..74367646, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74630103..74660081, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene stimulated by retinoic acid 6 Neighboring gene uncharacterized LOC105370893 Neighboring gene coiled-coil domain containing 33 Neighboring gene CYP11A1 promoter region Neighboring gene peptidylprolyl isomerase A pseudogene 46 Neighboring gene long intergenic non-protein coding RNA 2255 Neighboring gene microRNA 6881 Neighboring gene semaphorin 7A (John Milton Hagen blood group)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol monooxygenase (side-chain-cleaving) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol monooxygenase (side-chain-cleaving) activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol monooxygenase (side-chain-cleaving) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol monooxygenase (side-chain-cleaving) activity TAS
Traceable Author Statement
more info
 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
C21-steroid hormone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
 
cellular response to peptide hormone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cortisol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucocorticoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
vitamin D metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cholesterol side-chain cleavage enzyme, mitochondrial
Names
cholesterol 20-22 desmolase
cholesterol monooxygenase (side-chain cleaving)
cytochrome P450 11A1
cytochrome P450 family 11 subfamily A polypeptide 1
cytochrome P450(scc)
cytochrome P450, subfamily XIA (cholesterol side chain cleavage)
steroid 20-22-lyase
NP_000772.2
NP_001093243.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007973.1 RefSeqGene

    Range
    5095..34980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000781.3NP_000772.2  cholesterol side-chain cleavage enzyme, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_000772.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AI149078, BC032329, BX398579
    Consensus CDS
    CCDS32291.1
    UniProtKB/Swiss-Prot
    P05108
    UniProtKB/TrEMBL
    A0A0S2Z3R3
    Related
    ENSP00000268053.6, ENST00000268053.11
    Conserved Domains (1) summary
    pfam00067
    Location:52511
    p450; Cytochrome P450
  2. NM_001099773.2NP_001093243.1  cholesterol side-chain cleavage enzyme, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001093243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1, resulting in the translation start site being located at a downstream AUG. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC090826
    Consensus CDS
    CCDS45303.1
    UniProtKB/Swiss-Prot
    P05108
    Related
    ENSP00000351455.4, ENST00000358632.8
    Conserved Domains (1) summary
    pfam00067
    Location:7353
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    74337762..74367646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160016.1 Reference GRCh38.p13 PATCHES

    Range
    167031..196915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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