Adss1 adenylosuccinate synthase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adss1provided by MGI
Official Full Name: adenylosuccinate synthase 1provided by MGI
Primary source: MGI:MGI:87947
See related: Ensembl:ENSMUSG00000011148 AllianceGenome:MGI:87947
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Adss; Adssl1
Summary: Enables adenylosuccinate synthase activity. Involved in AMP salvage. Acts upstream of or within purine nucleotide metabolic process. Located in cytoplasm. Is expressed in several structures, including cerebral cortex; gut; heart; retina; and trunk somite. Orthologous to human ADSS1 (adenylosuccinate synthase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in heart adult (RPKM 25.8), mammary gland adult (RPKM 18.9) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F1; 12 61.2 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (112586481..112607789)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (112620047..112641355)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of Adenylosuccinate synthetase 1 gene is associated with lung adenocarcinoma.
Title: Adenylosuccinate synthetase 1 gene is a novel target of deletion in lung adenocarcinoma.
there are antagonistic interactions between the active sites of the basic isozyme of adenylosuccinate synthetase
Title: Variations in the response of mouse isozymes of adenylosuccinate synthetase to inhibitors of physiological relevance.
Crystalline complexes presented of the recombinant basic isozyme from mouse
Title: IMP, GTP, and 6-phosphoryl-IMP complexes of recombinant mouse muscle adenylosuccinate synthetase.
The absence of the 2'-hydroxyl group of the deoxyribonucleotide destabilizes binding of the ligand to the L-aspartate pocket of adenylosuccinate synthetase by disrupting hydrogen bonds and by introducing a cavity into the fully ligated active site.
Title: Cavitation as a mechanism of substrate discrimination by adenylosuccinate synthetases.
Adss1 functions as an important component in adenine nucleotide biosynthesis. It is up-regulated in surgically induced cardiomegaly.
Title: The adenylosuccinate synthetase-1 gene is activated in the hypertrophied heart.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI528595 (e-PCR)
- UniSTS:160258

Adssl1 (e-PCR), detects polymorphism
- UniSTS:508560

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables adenylosuccinate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylosuccinate synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenylosuccinate synthase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' AMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 'de novo' AMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in AMP biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in AMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in AMP salvage	TAS Traceable Author Statement more info	PubMed
involved_in IMP metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in IMP metabolic process	ISO Inferred from Sequence Orthology more info
involved_in aspartate metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within purine nucleotide metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adenylosuccinate synthetase isozyme 1

Names: AMPSase 1; IMP--aspartate ligase 1; M-type adenylosuccinate synthetase; adSS 1; adenylosuccinate synthetase 1, muscle; adenylosuccinate synthetase like 1; adenylosuccinate synthetase, basic isozyme; adenylosuccinate synthetase, muscle isozyme

NP_031447.1

EC 6.3.4.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.