ZFIN ID: ZDB-GENE-081105-17
Gene Name: carbamoyl-phosphate synthase 1, mitochondrial
Gene Symbol: cps1    Nomenclature History

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Previous Names: CPSIII (1), si:dkey-225d17.3

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 9 Mapping Details/Browsers
Description: Exhibits carbamoyl-phosphate synthase (ammonia) activity. Involved in ammonia homeostasis and urea cycle. Predicted to localize to cytoplasm. Is expressed in ball; brain; liver; and muscle. Human ortholog(s) of this gene implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. Orthologous to human CPS1 (carbamoyl-phosphate synthase 1).
Genome Resources: Alliance (1),  Gene:555623 (1),  Ensembl(GRCz11):ENSDARG00000020028 (1)
GENE EXPRESSION
All Expression Data: 3 figures from 2 publications
Wild-type Stages, Structures: Blastula:30%-epiboly (4.66h-5.25h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la026976Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa7635 Point Mutation Unknown Missense ENU
    sa10807 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18960 Point Mutation Unknown Premature Stop ENU
    sa34714 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa41493 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa44709 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-cps1 N/A 1
    PHENOTYPE
    Data: Fig. 5 from Lemoine et al., 2013
    Observed in:
    DISEASE ASSOCIATED WITH cps1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    carbamoyl phosphate synthetase I deficiency disease Alliance Carbamoylphosphate synthetase I deficiency 237300
    {Pulmonary hypertension, neonatal, susceptibility to} 615371
    DISEASE ASSOCIATED WITH cps1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process ammonia homeostasis (more)
    Cellular Component cytoplasm (more)
    Molecular Function carbamoyl-phosphate synthase (ammonia) activity (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cps1-201 (1)    Ensembl 4636
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cps1 No data available
    MARKER RELATIONSHIPS
    cps1 Contained in: [BAC] DKEY-225D17 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_678190 (1) 4764 nt
    Genomic GenBank:CR812481 (1) 233576 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A0A2R8Q0M3 (1) 1512 aa
    Sequence Information (all 13)
    ORTHOLOGY for cps1 ( Chr: 9 )
    CITATIONS (22)