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Cyp21a1 Gene Detail
Summary
  • Symbol
    Cyp21a1
  • Name
    cytochrome P450, family 21, subfamily a, polypeptide 1
  • Synonyms
    21-hydroxylase, 21-OH, 21OH, 21OHA, Cyp21, Oh21-1, Oh21-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88591
    NCBI Gene: 13079
  • Alliance
    gene page
  • Transcription Start Sites
    23 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:35020322-35023400 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 18.36 cM
  • Mapping Data
    29 experiments
Strain
Comparison
more
  • Strain Annotations
    11
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88591
 protein coding gene Chr17:35020322-35023535 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023589
 protein coding gene Chr17:34905165-34908344 (-)
A/J MGP_AJ_G0023550
 protein coding gene Chr17:33765241-33766082 (-)
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ MGP_C57BL6NJ_G0023995
 protein coding gene Chr17:36225608-36226847 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021473
 protein coding gene Chr17:31517429-31520643 (-)
CAST/EiJ no annotation
CBA/J MGP_CBAJ_G0023292
 protein coding gene Chr17:37653530-37762724 (-)
DBA/2J MGP_DBA2J_G0023421
 protein coding gene Chr17:32929264-32932570 (-)
FVB/NJ MGP_FVBNJ_G0023387
 protein coding gene Chr17:32825670-32915013 (-)
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0023411
 protein coding gene Chr17:36609983-36613242 (-)
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ MGP_SPRETEiJ_G0022380
 protein coding gene Chr17:32469030-32472181 (-)
WSB/EiJ MGP_WSBEiJ_G0022875
 protein coding gene Chr17:34557099-34563457 (-)



Homology
more
  • Human Ortholog
    CYP21A1P, cytochrome P450 family 21 subfamily A member 1, pseudogene
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYP21A1P, cytochrome P450 family 21 subfamily A member 1, pseudogene
  • Synonyms
    CYP21A, CYP21P, P450c21A
  • Links
    NCBI Gene ID: 1590

  • Chr Location
    6p21.33; chr6:32005636-32008909 (+)  GRCh38
  • Human Ortholog
    CYP21A2, cytochrome P450 family 21 subfamily A member 2
  • Synonyms
    CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
  • Links
    NCBI Gene ID: 1589
    neXtProt AC: NX_P08686
    UniProt: P08686

  • Chr Location
    6p21.33; chr6:32038327-32041644 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CYP21A2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    6 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.
An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    20
  • GO References
    7
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
membraneless 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
    911
  • Tissues
    135
  • cDNA Data
    9
  • Literature Summary
    32
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13079 NCBI Gene Model | MGI Sequence Detail 3079 C57BL/6J ±  kb
    transcript NM_009995 RefSeq | MGI Sequence Detail 1939 C57BL/6  
    polypeptide P03940 UniProt | EBI | MGI Sequence Detail 487 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 23
      cDNA 11
      Primer pair 7
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1000, MGD-MRK-13021, MGD-MRK-2305, MGD-MRK-2307
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 32
      Gene Ontology 7
      Phenotypes 6
    • Earliest
      J:7260 Chaplin DD, et al., Molecular map of the murine S region. Proc Natl Acad Sci U S A. 1983 Nov;80(22):6947-51
    • Latest
      J:354194 Oikonomakos I, et al., In vitro differentiation of mouse pluripotent stem cells into corticosteroid-producing adrenocortical cells. Stem Cell Reports. 2024 Sep 10;19(9):1289-1303
    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)
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory