ADSS1

Protein identityUniProt · HPA

UniProt accession

Q8N142

Gene

ADSS1

Ensembl

ENSG00000185100

Chromosome

14

Canonical length

457 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

457 residues, UniProt reviewed canonical sequence.

>Q8N142|ADSS1
     1  MSGTRASNDR PPGAGGVKRG RLQQEAAATG SRVTVVLGAQ WGDEGKGKVV DLLATDADII
    61  SRCQGGNNAG HTVVVDGKEY DFHLLPSGII NTKAVSFIGN GVVIHLPGLF EEAEKNEKKG
   121  LKDWEKRLII SDRAHLVFDF HQAVDGLQEV QRQAQEGKNI GTTKKGIGPT YSSKAARTGL
   181  RICDLLSDFD EFSSRFKNLA HQHQSMFPTL EIDIEGQLKR LKGFAERIRP MVRDGVYFMY
   241  EALHGPPKKI LVEGANAALL DIDFGTYPFV TSSNCTVGGV CTGLGIPPQN IGDVYGVVKA
   301  YTTRVGIGAF PTEQINEIGG LLQTRGHEWG VTTGRKRRCG WLDLMILRYA HMVNGFTALA
   361  LTKLDILDVL GEVKVGVSYK LNGKRIPYFP ANQEMLQKVE VEYETLPGWK ADTTGARRWE
   421  DLPPQAQNYI RFVENHVGVA VKWVGVGKSR ESMIQLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADSS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

1,193 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADSS1.

Disease | AllUniProt

Conditions ADSS1 is implicated in, by any mechanism.

• Myopathy, distal, 5 (MPD5) MIM:617030

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 510 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy, distal, 5
• ADSS1-related disorder
• Arthrogryposis multiplex congenita
• Fetal akinesia deformation sequence 1
• Colon adenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.84

gnomAD pLI

0

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 'de novo' AMP biosynthetic process
• AMP biosynthetic process
• AMP salvage
• aspartate metabolic process
• cellular response to electrical stimulus
• cellular response to xenobiotic stimulus
• glutamine metabolic process
• immune system process
• IMP metabolic process
• response to muscle activity
• response to starvation

Molecular functions

• actin filament binding
• adenylosuccinate synthase activity
• GTP binding
• GTPase activity
• identical protein binding
• magnesium ion binding
• phosphate ion binding

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Adenylosuccinate synthetase
• Adenylosuccinate synthase, GTP-binding site
• P-loop containing nucleoside triphosphate hydrolase
• Adenylosuccinate synthase, active site
• Adenylosuccinate synthetase, domain 1
• Adenylosuccinate synthetase, domain 2
• Adenylosuccinate synthetase, domain 3
• Adenylosuccinate synthetase
• Adenylosuccinate synthetase isozyme 1, chordates

KeywordsUniProt

• Cytoplasm
• GTP-binding
• Ligase
• Magnesium
• Metal-binding
• Nucleotide-binding
• Purine biosynthesis

InteractionsUniProt · HPA

Protein binding partners of ADSS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ADSS2