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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
Location & Maps
more
  • Sequence Map
    Chr1:67123026-67231259 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      108234 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 33.75 cM, cytoband C3
  • Mapping Data
    5 experiments
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
    2 phenotypes from 1 allele in 1 genetic background
    7 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 mutation of this gene results in death by 36 hours after birth and hyperammonemia.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026539 VEGA Gene Model | MGI Sequence Detail 108234 C57BL/6J ±  kb
    transcript OTTMUST00000065667 VEGA | MGI Sequence Detail 5555 Not Applicable  
    polypeptide OTTMUSP00000032759 VEGA | MGI Sequence Detail 1500 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1244 from dbSNP Build 142
    • RFLP
    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
      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 78
      cDNA 75
      Primer pair 2
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-5718, MGI:3036229, MGI:91859
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 15
      Diseases 1
      Gene Ontology 10
      Phenotypes 7
    • 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:236636 Planas-Paz L, et al., The RSPO-LGR4/5-ZNRF3/RNF43 module controls liver zonation and size. Nat Cell Biol. 2016 May;18(5):467-79

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory