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Cyp11a1 Gene Detail
Summary
  • Symbol
    Cyp11a1
  • Name
    cytochrome P450, family 11, subfamily a, polypeptide 1
  • Synonyms
    cholesterol side chain cleavage, cscc, Cyp11a, D9Ertd411e, P450scc, Scc
  • Feature Type
    protein coding gene
  • IDs
    MGI:88582
    NCBI Gene: 13070
Location & Maps
more
  • Sequence Map
    Chr9:58006411-58027023 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20613 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 31.63 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    CYP11A1, cytochrome P450 family 11 subfamily A member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CYP11A1, cytochrome P450 family 11 subfamily A member 1
    Orthology source: HomoloGene
  • Synonyms
    CYP11A, CYPXIA1, P450SCC
  • Links
    NCBI Gene ID: 1583
    neXtProt AC: NX_P05108

  • Chr Location
    15q23-q24; chr15:74337762-74367740 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CYP11A1 associations

Human Disease Mouse Models
       Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete   OMIM: 613743
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 4 alleles in 4 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Gene trapped
    6
  • Targeted
    8
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000045946 VEGA Gene Model | MGI Sequence Detail 20613 C57BL/6J ±  kb
transcript OTTMUST00000120042 VEGA | MGI Sequence Detail 2120 Not Applicable  
polypeptide OTTMUSP00000066597 VEGA | MGI Sequence Detail 526 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    114 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000006096 cytochrome P450 11A1, mitochondrial
  • EC
  • InterPro Domains
    IPR033283 Cholesterol side-chain cleavage enzyme, mitochondrial
    IPR001128 Cytochrome P450
    IPR017972 Cytochrome P450, conserved site
    IPR002401 Cytochrome P450, E-class, group I
Molecular
Reagents
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  • All nucleic 89
    Genomic 1
    cDNA 74
    Primer pair 9
    Other 5

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2291, MGI:1196317
References
more
  • Summaries
    All 155
    Developmental Gene Expression 99
    Gene Ontology 9
    Phenotypes 14
  • 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:228826 Cisternas CD, et al., Sex chromosome complement determines sex differences in aromatase expression and regulation in the stria terminalis and anterior amygdala of the developing mouse brain. Mol Cell Endocrinol. 2015 Oct 15;414:99-110

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory