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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ASS1
Protein SuperFamily: argininosuccinate synthase
Gene Tree: Ass1

Human
homologs
ASS1, argininosuccinate synthase 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 445
neXtProt AC: NX_P00966

Human Synonyms: ASS, CTLN1

Human Chr (Location): 9q34.1; chr9:130444707-130501274 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ASS1

Mutations,
alleles, and
phenotypes
All mutations/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 in Mice Using Ass1 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)
Interactions
Ass1 interacts with 50 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 156
cDNA source data(10)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase ass1    NEW 
Molecular
reagents
All nucleic(22) Genomic(8) cDNA(12) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000012079 (Evidence)
Ensembl Gene Model ENSMUSG00000076441 (Evidence)
Entrez Gene 11898 (Evidence)
NIA Mouse Gene Index U001602, U067768
EC 6.3.4.5
Consensus CDS Project CCDS15898.1
International Mouse Phenotyping Consortium Status Ass1
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(40) 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:219026 Chennupati R, et al., Endothelial arginine resynthesis contributes to the maintenance of vasomotor function in male diabetic mice. PLoS One. 2014;9(7):e102264
All references(61)
Disease annotation references (2)
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
05/20/2015
MGI 5.22
The Jackson Laboratory