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Ass1
Gene Detail
 Symbol
Name
ID
Ass1
argininosuccinate synthetase 1
MGI:88090
Synonyms ASS, Ass-1, fold
Feature Type protein coding gene
Genetic Map
Chromosome 2
21.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
Chr2:31470207-31520672 bp, + strand
From VEGA annotation of GRCm38

  50466 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:6899  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: argininosuccinate synthase
Gene Tree: Ass1

Human
homologs
Human Homolog ASS1, argininosuccinate synthase 1
NCBI Gene ID 445
neXtProt AC  NX_P00966
Human Synonyms  ASS, CTLN1
Human Chr (Location)  9q34.1; chr9:130444707-130501274 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ASS1
Alleles
and
phenotypes
All alleles(49) : Gene trapped(41) Spontaneous(2) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology.
 
Human Diseases Modeled Using Mouse Ass1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process arginine biosynthetic process, argininosuccinate metabolic process, ...
Component cell body fiber, cytoplasm, ...
Function amino acid binding, argininosuccinate synthase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (156)    Tissues (155)    Images (24)
Theiler Stages: 22, 26, 28
Assay TypeResults
RNA in situ 156
cDNA source data(10)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(22) Genomic(8) cDNA(12) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000012079 (Evidence)
Ensembl Gene ModelENSMUSG00000076441 (Evidence)
Entrez Gene11898 (Evidence)
NIA Mouse Gene IndexU001602, U067768
EC6.3.4.5
Consensus CDS ProjectCCDS15898.1
International Mouse Knockout Project StatusAss1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012079 VEGA Gene Model | MGI Sequence Detail 50466 C57BL/6J ±  kb
transcript OTTMUST00000028752 VEGA | MGI Sequence Detail 1696 Not Applicable 
polypeptide OTTMUSP00000013008 VEGA | MGI Sequence Detail 412 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(2) UniProt(3)
Polymorphisms RFLP(5) : SNPs within 2kb(173 from dbSNP Build 137)    SNPs within 2kb including multiple locations(179)
Protein-related
information
ResourceIDDescription
InterPro IPR001518 Argininosuccinate synthase
InterPro IPR018223 Argininosuccinate synthase, conserved site
InterPro IPR023434 Argininosuccinate synthase, type 1 subfamily
InterPro IPR024074 Argininosuccinate synthetase, catalytic/multimerisation domain body
InterPro IPR014729 Rossmann-like alpha/beta/alpha sandwich fold
Protein Ontology PR:000004386 argininosuccinate synthase
References (Earliest) J:4829 Nakamura D, et al., Comparison of the arginosuccinate synthetase gene family in mouse and man. Cytogenet Cell Genet. 1985;40:710
(Latest) J:203474 Marion V, et al., Hepatic adaptation compensates inactivation of intestinal arginine biosynthesis in suckling mice. PLoS One. 2013;8(6):e67021
All references(59)
Other
accession IDs
MGD-MRK-1430, MGD-MRK-1433, MGI:2143462, MGI:3665141

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory