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

  • Chr Location
    2q35; chr2:210477682-210679107 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Cps1 mouse models; 3 with human CPS1 associations

Human Disease Mouse Models
       Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to   OMIM: 237300 View 1 model
       Carbamoyl Phosphate Synthetase I; CPS1   OMIM: 608307
Pulmonary Hypertension, Neonatal, Susceptibility To; PHN   OMIM: 615371
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
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    3
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    2 involving Cps1
  • Incidental Mutations
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
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
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    1244 from dbSNP Build 142
  • RFLP
Protein
Information
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  • 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
    IPR013816 ATP-grasp fold, subdomain 2
    IPR006275 Carbamoyl-phosphate synthase, large subunit
    IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
    IPR006274 Carbamoyl-phosphate synthase, small subunit
    IPR002474 Carbamoyl-phosphate synthase, small subunit N-terminal domain
    IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
    IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
    IPR029062 Class I glutamine amidotransferase-like
    IPR017926 Glutamine amidotransferase
    IPR011607 Methylglyoxal synthase-like domain
    IPR016185 Pre-ATP-grasp domain
Molecular
Reagents
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  • All nucleic 78
    cDNA 75
    Primer pair 2
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-5718, MGI:3036229, MGI:91859
References
more
  • Summaries
    All 52
    Developmental Gene Expression 13
    Diseases 1
    Gene Ontology 9
    Phenotypes 6
  • Earliest
    J:144770 Bhat NK, et al., The transport and processing of carbamyl phosphate synthetase-I in mouse hepatic mitochondria. Biochem Biophys Res Commun. 1984 Jan 30;118(2):514-22
  • Latest
    J:224392 Poncy A, et al., Transcription factors SOX4 and SOX9 cooperatively control development of bile ducts. Dev Biol. 2015 Aug 15;404(2):136-48

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
05/17/2016
MGI 6.03
The Jackson Laboratory