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Cps1 Gene Detail
Summary
  • Symbol
    Cps1
  • Name
    carbamoyl-phosphate synthetase 1
  • Synonyms
    4732433M03Rik, CPS, CPSase I, D1Ucla3
  • Feature Type
    protein coding gene
  • IDs
    MGI:891996
    NCBI Gene: 227231
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:67123026-67231259 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 33.75 cM, cytoband C3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1244 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_891996
protein coding gene Chr1:67122426-67231267 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016119
protein coding gene Chr1:67391667-67500837 (+)
A/J MGP_AJ_G0016102
protein coding gene Chr1:65011237-65121384 (+)
AKR/J MGP_AKRJ_G0016059
protein coding gene Chr1:66864319-66973079 (+)
BALB/cJ MGP_BALBcJ_G0016057
protein coding gene Chr1:65094855-65210647 (+)
C3H/HeJ MGP_C3HHeJ_G0015888
protein coding gene Chr1:67118253-67230933 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016510
protein coding gene Chr1:69998013-70113739 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014231
protein coding gene Chr1:60943996-61051707 (+)
CAST/EiJ MGP_CASTEiJ_G0015472
protein coding gene Chr1:66395840-66519635 (+)
CBA/J MGP_CBAJ_G0015861
protein coding gene Chr1:72283330-72401626 (+)
DBA/2J MGP_DBA2J_G0015962
protein coding gene Chr1:64400020-64535585 (+)
FVB/NJ MGP_FVBNJ_G0015965
protein coding gene Chr1:63650318-63762350 (+)
LP/J MGP_LPJ_G0016034
protein coding gene Chr1:68364021-68487616 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015985
protein coding gene Chr1:75224412-75371007 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016557
protein coding gene Chr1:66825703-66937296 (+)
PWK/PhJ MGP_PWKPhJ_G0015259
protein coding gene Chr1:63812243-63926797 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015038
protein coding gene Chr1:66287531-66404286 (+)
WSB/EiJ MGP_WSBEiJ_G0015534
protein coding gene Chr1:66558539-66674325 (+)



Homology
more
  • Human Ortholog
    CPS1, carbamoyl-phosphate synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CPS1, carbamoyl-phosphate synthase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CPSASE1, PHN
  • Links
    NCBI Gene ID: 1373
    neXtProt AC: NX_P31327
    UniProt: P31327

  • Chr Location
    2q34; chr2:210477682-210679107 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Cps1 mouse models; 2 with human CPS1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025991 Ensembl Gene Model | MGI Sequence Detail 108234 C57BL/6J ±  kb
    transcript ENSMUST00000027144 Ensembl | MGI Sequence Detail 5555 Not Applicable  
    polypeptide ENSMUSP00000027144 Ensembl | MGI Sequence Detail 1500 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000005827 carbamoyl-phosphate synthase [ammonia], mitochondrial
    • EC
    • InterPro Domains
      IPR011761 ATP-grasp fold
      IPR013815 ATP-grasp fold, subdomain 1
      IPR006275 Carbamoyl-phosphate synthase, large subunit
      IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
      IPR006274 Carbamoyl-phosphate synthase, small subunit
      IPR035686 Carbamoyl-phosphate synthase small subunit, GATase1 domain
      IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domain
      IPR036480 Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily
      IPR041557 Carbamoyl phosphate synthetase, C-terminal domain
      IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
      IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
      IPR036897 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily
      IPR029062 Class I glutamine amidotransferase-like
      IPR017926 Glutamine amidotransferase
      IPR011607 Methylglyoxal synthase-like domain
      IPR036914 Methylglyoxal synthase-like domain superfamily
      IPR016185 Pre-ATP-grasp domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 80
      cDNA 77
      Primer pair 2
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-5718, MGI:3036229, MGI:91859
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 10
      Phenotypes 8
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:262663 Burke ZD, et al., Spatiotemporal regulation of liver development by the Wnt/beta-catenin pathway. Sci Rep. 2018 Feb 9;8(1):2735

    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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    last database update
    06/11/2019
    MGI 6.14
    The Jackson Laboratory