Entity Details

Primary name ADSS1
Entity type gene
Source Source Link

Details

PrimaryID122622
RefseqGeneNG_051175
SymbolADSS1
Nameadenylosuccinate synthase 1
Chromosome14
Location14q32.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPURA1_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0002376 immune system process
GO:0003924 GTPase activity
GO:0004019 adenylosuccinate synthase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006167 AMP biosynthetic process
GO:0006531 aspartate metabolic process
GO:0006541 glutamine metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0014850 response to muscle activity
GO:0035690 cellular response to drug
GO:0042301 phosphate ion binding
GO:0042594 response to starvation
GO:0042802 identical protein binding
GO:0044208 'de novo' AMP biosynthetic process
GO:0046040 IMP metabolic process
GO:0051015 actin filament binding
GO:0071257 cellular response to electrical stimulus

Diseases

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Disease IDSourceNameDescription
617030 OMIMMyopathy, distal, 5 (MPD5)A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
ADSS1AZIN1BioGRID, IntAct21988832 details
ADSS1LYARBioGRID, IntAct21988832 details
ADSS1PCNAUniProt26030842 details
ADSS1YWHAZMINT15161933 details
ADSS1ADSS1HPRD11560929 details
ADSS1ADSS2BioGRID, IntAct27684187 28514442 details
ADSS1HNRNPLBioGRID28611215 details