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

    Gene ID: 1583, updated on 20-Apr-2017
    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; 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:
    15q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 coiled-coil domain containing 33 Neighboring gene uncharacterized LOC105370893 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene long intergenic non-protein coding RNA 2255 Neighboring gene microRNA 6881 Neighboring gene semaphorin 7A (John Milton Hagen blood group)

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    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
     
    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
     
    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 matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    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, subfamily XIA (cholesterol side chain cleavage)
    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
      ENSP00000268053.6, OTTHUMP00000198332, ENST00000268053.10, 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
      ENSP00000351455.4, OTTHUMP00000198333, ENST00000358632.8, OTTHUMT00000319738
      Conserved Domains (1) summary
      pfam00067
      Location:7353
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 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)
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