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

Gene ID: 1583, updated on 22-May-2016
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 HPRD:00326; MIM:118485; Vega:OTTHUMG00000150716
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]
Orthologs
Location:
15q23-q24
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (74337762..74367740, 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 peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene uncharacterized LOC105370894 Neighboring gene microRNA 6881 Neighboring gene semaphorin 7A (John Milton Hagen blood group)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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
 
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
 
glucocorticoid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
secondary metabolite biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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, family 11, subfamily A, polypeptide 1
cytochrome P450, subfamily XIA (cholesterol side chain cleavage)
cytochrome P450C11A1
steroid 20-22-lyase
NP_000772.2
NP_001093243.1

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
    5001..34980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000781.2NP_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, OTTHUMP00000198332, ENST00000268053, OTTHUMT00000319737
    Conserved Domains (1) summary
    pfam00067
    Location:52511
    p450; Cytochrome P450
  2. NM_001099773.1NP_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)
    AI149078, BC032329, DA010417
    Consensus CDS
    CCDS45303.1
    UniProtKB/Swiss-Prot
    P05108
    Related
    ENSP00000351455, OTTHUMP00000198333, ENST00000358632, OTTHUMT00000319738
    Conserved Domains (1) summary
    pfam00067
    Location:7353
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    74337762..74367740 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    74748248..74778221 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)