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

Summary

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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Embryonic Steroids Control Developmental Programming of Energy Balance.
Title: Embryonic Steroids Control Developmental Programming of Energy Balance.
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.
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.
reduction in expression mirrored reduction in adrenal corticosterone output
Title: NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cyp17a1 (e-PCR), detects polymorphism
- UniSTS:531469

UniSTS:464661 (e-PCR)
- UniSTS:464661

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:464661

UniSTS:257092 (e-PCR)
- UniSTS:257092

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:257092

UniSTS:474701 (e-PCR)
- UniSTS:474701

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:474701

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:256604

PMC140651P2 (e-PCR)
- UniSTS:270947

NoName (e-PCR)
- UniSTS:236142

Cyp11a1 (e-PCR), detects polymorphism
- UniSTS:462977

RH127297 (e-PCR)
- UniSTS:167617

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 more info	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

EC 1.14.15.6

NP_062753.3

EC 1.14.15.6

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)

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
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