U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 [ Mus musculus (house mouse) ]

    Gene ID: 13070, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Cyp11a1provided by MGI
    Official Full Name
    cytochrome P450, family 11, subfamily a, polypeptide 1provided by MGI
    Primary source
    MGI:MGI:88582
    See related
    Ensembl:ENSMUSG00000032323 AllianceGenome:MGI:88582
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Scc; cscc; Cyp11a; Cypxia1; P450scc; D9Ertd411e
    Summary
    Enables cholesterol monooxygenase (side-chain-cleaving) activity. Acts upstream of or within C21-steroid hormone biosynthetic process. Located in mitochondrion. Is expressed in several structures, including central nervous system; endocrine gland; reproductive system; retina; and skin. Human ortholog(s) of this gene implicated in congenital adrenal hyperplasia and congenital adrenal insufficiency. Orthologous to human CYP11A1 (cytochrome P450 family 11 subfamily A member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in adrenal adult (RPKM 494.9), ovary adult (RPKM 389.8) and 1 other tissue See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Cyp11a1 in Genome Data Viewer
    Location:
    9 B; 9 31.63 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (57905307..57934314)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (57998024..58027031)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57758633-57758820 Neighboring gene ubiquitin-like 7 (bone marrow stromal cell-derived) Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57804760-57804959 Neighboring gene sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A Neighboring gene STARR-positive B cell enhancer ABC_E8291 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57816329-57816438 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57819923-57820197 Neighboring gene STARR-seq mESC enhancer starr_24252 Neighboring gene STARR-positive B cell enhancer ABC_E2890 Neighboring gene STARR-seq mESC enhancer starr_24253 Neighboring gene Cyp11a1 promoter region Neighboring gene ADP-ribosylation factor-like 6 interacting protein 1 pseudogene Neighboring gene coiled-coil domain containing 33 Neighboring gene predicted gene 16130 Neighboring gene stimulated by retinoic acid gene 6 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57960192-57960379 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57981876-57982059

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Import of hybrid forms of CYP11A1 into yeast mitochondria. Minenko AN, et al. Biochim Biophys Acta, 2008 Oct. PMID 18621100
    2. Placenta-specific CYP11A1 overexpression lead to autism-like symptom in offspring with altered steroid hormone biosynthesis in the placenta-brain axis and rescued by vitamin D intervention. Yin H, et al. Brain Behav Immun, 2024 Oct. PMID 39025414
    3. Tumors induce de novo steroid biosynthesis in T cells to evade immunity. Mahata B, et al. Nat Commun, 2020 Jul 17. PMID 32680985, Free PMC Article
    4. The steroidogenic enzyme Cyp11a1 is essential for development of peanut-induced intestinal anaphylaxis. Wang M, et al. J Allergy Clin Immunol, 2013 Nov. PMID 23870673, Free PMC Article
    5. Expression and cellular localization of uterine side-chain cleavage cytochrome P450 messenger ribonucleic acid during early pregnancy in mice. Schiff R, et al. Endocrinology, 1993 Aug. PMID 8344198

    See all (221) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA methylation of Ad4BP/SF-1 suppresses Cyp11a1 and StAR transcripts in C2C12 myoblasts.
      Title: DNA methylation of Ad4BP/SF-1 suppresses Cyp11a1 and StAR transcripts in C2C12 myoblasts.
    2. Placenta-specific CYP11A1 overexpression lead to autism-like symptom in offspring with altered steroid hormone biosynthesis in the placenta-brain axis and rescued by vitamin D intervention.
      Title: Placenta-specific CYP11A1 overexpression lead to autism-like symptom in offspring with altered steroid hormone biosynthesis in the placenta-brain axis and rescued by vitamin D intervention.
    3. FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases.
      Title: FXR Maintains the Intestinal Barrier and Stemness by Regulating CYP11A1-Mediated Corticosterone Synthesis in Biliary Obstruction Diseases.
    4. Embryonic Steroids Control Developmental Programming of Energy Balance.
      Title: Embryonic Steroids Control Developmental Programming of Energy Balance.
    5. Fatty acids suppress the steroidogenesis of the MA-10 mouse Leydig cell line by downregulating CYP11A1 and inhibiting late-stage autophagy.
      Title: Fatty acids suppress the steroidogenesis of the MA-10 mouse Leydig cell line by downregulating CYP11A1 and inhibiting late-stage autophagy.
    6. melatonin not only elevated progesterone (P) secretion, but also upregulated expressions of StAR and Cyp11a1 and also had an increased Ihh expression in endometrium.
      Title: Effects of Melatonin on Early Pregnancy in Mouse: Involving the Regulation of StAR, Cyp11a1, and Ihh Expression.
    7. reduction in expression mirrored reduction in adrenal corticosterone output
      Title: NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice.
    8. The results demonstrated that ZnT7 gene silencing downregulated the expression of StAR, P450scc and 3beta-HSD as well as progesterone concentrations in the human chorionic gonadotrophin-stimulated Leydig tumor cells.
      Title: A potential role for zinc transporter 7 in testosterone synthesis in mouse Leydig tumor cells.
    9. 1,25D3 modulates CD8+ T cell phenotype via recruitment of the VDR transcription factor to the promoter region of Cyp11a1 leading to prevention of lung allergic responses.
      Title: 1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter.
    10. Data from Cyp11a1 transgenic mice suggest that overexpression of Cyp11a1 results in reduced pregnancy rate, impaired implantation/placentation, decreased litter size, and stillbirth; overexpression of Cyp11a1 disrupts development of corpus luteum.
      Title: Misregulated progesterone secretion and impaired pregnancy in Cyp11a1 transgenic mice.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (8)  1 citation

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cholesterol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cholesterol monooxygenase (side-chain-cleaving) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol monooxygenase (side-chain-cleaving) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cholesterol monooxygenase (side-chain-cleaving) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in C21-steroid hormone biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within C21-steroid hormone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in C21-steroid hormone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to peptide hormone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cortisol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucocorticoid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mating behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to hydrogen peroxide ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial crista ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    cholesterol side-chain cleavage enzyme, mitochondrial
    Names
    cholesterol desmolase
    cytochrome P450 11A1
    cytochrome P450 side-chain cleavage enzyme
    cytochrome P450(scc)
    cytochrome P450, 11a, cholesterol side-chain cleavage
    NP_001333716.1
    NP_062753.3

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001346787.1 → NP_001333716.1  cholesterol side-chain cleavage enzyme, mitochondrial isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC158996, AC165246

    2. NM_019779.4 → NP_062753.3  cholesterol side-chain cleavage enzyme, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_062753.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC158996, AF195119, CJ092722
      Consensus CDS
      CCDS40653.1
      UniProtKB/Swiss-Prot
      Q9QZ82
      UniProtKB/TrEMBL
      Q6NV84
      Related
      ENSMUSP00000034874.8, ENSMUST00000034874.14
      Conserved Domains (1) summary
      pfam00067
      Location:49 → 507
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      57905307..57934314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QZ82.1 GenPept UniProtKB/Swiss-Prot:Q9QZ82

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous