About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:57913694-57934306 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 31.63 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    114 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88582
protein coding gene Chr9:57905307-57934314 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034882
protein coding gene Chr9:57264601-57292459 (+)
A/J MGP_AJ_G0034863
protein coding gene Chr9:55403900-55425844 (+)
AKR/J MGP_AKRJ_G0034792
protein coding gene Chr9:56702275-56726038 (+)
BALB/cJ MGP_BALBcJ_G0034855
protein coding gene Chr9:55185692-55206557 (+)
C3H/HeJ MGP_C3HHeJ_G0034565
protein coding gene Chr9:57167819-57191866 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035374
protein coding gene Chr9:58846510-58872122 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032285
protein coding gene Chr9:54697146-54717365 (+)
CAST/EiJ MGP_CASTEiJ_G0033886
protein coding gene Chr9:57263737-57286556 (+)
CBA/J MGP_CBAJ_G0034536
protein coding gene Chr9:60908310-60936432 (+)
DBA/2J MGP_DBA2J_G0034695
protein coding gene Chr9:55269354-55290408 (+)
FVB/NJ MGP_FVBNJ_G0034637
protein coding gene Chr9:54505848-54525574 (+)
LP/J MGP_LPJ_G0034778
protein coding gene Chr9:57553361-57575095 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034680
protein coding gene Chr9:62399126-62420989 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035396
protein coding gene Chr9:56711761-56736522 (+)
PWK/PhJ MGP_PWKPhJ_G0033591
protein coding gene Chr9:55308279-55329311 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033425
protein coding gene Chr9:56980244-57003215 (+)
WSB/EiJ MGP_WSBEiJ_G0033999
protein coding gene Chr9:56647955-56671309 (+)



Homology
more
  • Human Ortholog
    CYP11A1, cytochrome P450 family 11 subfamily A member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYP11A1, cytochrome P450 family 11 subfamily A member 1
  • Synonyms
    CYP11A, CYPXIA1, P450SCC
  • Links
    NCBI Gene ID: 1583
    neXtProt AC: NX_P05108
    UniProt: P05108

  • Chr Location
    15q24.1; chr15:74337759-74367646 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with human CYP11A1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 5 alleles in 5 genetic backgrounds
    27 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.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032323 Ensembl Gene Model | MGI Sequence Detail 20613 C57BL/6J ±  kb
    transcript ENSMUST00000034874 Ensembl | MGI Sequence Detail 2120 Not Applicable  
    polypeptide ENSMUSP00000034874 Ensembl | MGI Sequence Detail 526 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 101
      Genomic 1
      cDNA 78
      Primer pair 15
      Other 7

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-2291, MGI:1196317
    References
    more
    • Summaries
      All 222
      Developmental Gene Expression 141
      Gene Ontology 9
      Phenotypes 27
    • 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:344559 Hughes CHK, et al., Steroidogenic factor 1 (SF-1; Nr5a1) regulates the formation of the ovarian reserve. Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2220849120

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.
    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory