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; chr9:133320094-133376661 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ASS1

Alleles and phenotypes

All alleles(47) : Targeted(4) Gene trapped(41) Spontaneous(2)
 

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: (24 annotations)

Process	arginine biosynthetic process, argininosuccinate metabolic process, ...
Component	cell body fiber, cytoplasm, ...
Function	argininosuccinate synthase activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (95)    Tissues (94)    Images (22)
Theiler Stages: 22

Assay Type	Results
RNA in situ	95

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 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 Knockout Project Status	Ass1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012079	VEGA Gene Model | MGI Sequence Detail	50466	C57BL/6J
transcript	OTTMUST00000028752	VEGA | MGI Sequence Detail	1696	Not Applicable
polypeptide	OTTMUSP00000013008	VEGA | MGI Sequence Detail	412	Not Applicable

All sequences(38) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(5) : SNPs(167 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:183321 Lu Y, et al., Partial deletion of argininosuccinate synthase protects from pyrazole plus lipopolysaccharide-induced liver injury by decreasing nitrosative stress. Am J Physiol Gastrointest Liver Physiol. 2012 Feb;302(3):G287-95
All references(56)

Other accession IDs

MGD-MRK-1430, MGD-MRK-1433, MGI:2143462, MGI:3665141