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

Gene ID: 13070, updated on 27-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

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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 (222) 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

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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