Cyp11a1
Gene Detail

Symbol Name ID

Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 MGI:88582

Synonyms

cholesterol side chain cleavage, cscc, Cyp11a, D9Ertd411e, P450scc, Scc

Feature Type

protein coding gene

Genetic Map

Chromosome 9

31.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)

Sequence Map

Chr9:58015017-58027023 bp, + strand From NCBI annotation of GRCm38   12007 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; goat; pig, domestic; sheep    (Mammalian Orthology)
Comparative Map (Mouse/Human Cyp11a1 ± 2 cM)

Protein SuperFamily: cytochrome P450 CYP11B1
Gene Tree: Cyp11a1

Human ortholog

CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 NCBI Gene ID 1583
Human Synonyms: CYP11A, CYPXIA1, P450SCC
Human Chr15:74630103-74660081 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human CYP11A1 (1)

Alleles and phenotypes

All alleles(6) : Targeted(6)
 

Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads. Mice homozgyous for another knock-out allele exhibit abnormal adrenal development and neonatal lethality.

 

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	C21-steroid hormone biosynthetic process, cholesterol metabolic process, ...
Component	membrane, mitochondrial crista, ...
Function	cholesterol binding, cholesterol monooxygenase (side-chain-cleaving) activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (74 records)
Data Summary: Results (198)    Tissues (139)    Images (15)
Theiler Stages: 4, 10, 17, 18, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	1
RNA in situ	125
RT-PCR	72

cDNA source data(73)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(84) Genomic(1) cDNA(76) Primer pair(6) Other(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000032323 (Evidence)
Entrez Gene	13070 (Evidence)
UniGene	302865
DFCI	TC1578831, TC1604914
DoTS	DT.101724049, DT.40151364, DT.533628
NIA Mouse Gene Index	U010560, U010561
EC	1.14.15.6
Consensus CDS Project	CCDS40653.1
International Mouse Knockout Project Status	Cyp11a1

Sequences

Length	Strain/Species
genomic	13070	NCBI Gene Model | MGI Sequence Detail	12007	C57BL/6J
transcript	NM_019779	RefSeq | MGI Sequence Detail	1774	C57BL/6
polypeptide	Q9QZ82	UniProt | EBI | MGI Sequence Detail	526	Not Applicable

All sequences(28) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(51 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001128	Cytochrome P450
InterPro	IPR017972	Cytochrome P450, conserved site
InterPro	IPR002401	Cytochrome P450, E-class, group I
Protein Ontology	PR:000006096	cytochrome P450 11A1, mitochondrial

Graphical View of Protein Domain Structure

References

(Earliest) J:26017 Perkins LM, et al., Quantification of P450scc, P450(17) alpha, and iron sulfur protein reductase in Leydig cells and adrenals of inbred strains of mice. Endocrinology. 1988 Dec;123(6):2675-82
(Latest) J:192626 Miyado M, et al., Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development. Endocrinology. 2012 Dec;153(12):6033-40
All references(127)

Other accession IDs

MGD-MRK-2291, MGI:1196317