ASS1

Protein identityUniProt · HPA

UniProt accession

P00966

Gene

ASS1

Ensembl

ENSG00000130707

Chromosome

9

Canonical length

412 aa

Protein class

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

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

412 residues, UniProt reviewed canonical sequence.

>P00966|ASS1
     1  MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF
    61  IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG
   121  KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS
   181  MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD
   241  GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF
   301  TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI
   361  LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASS1 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)

0.26

Highest tissue expression

1,907 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASS1.

Disease | AllUniProt

Conditions ASS1 is implicated in, by any mechanism.

• Citrullinemia 1 (CTLN1) MIM:215700

Disease | GeneticClinVar

230 pathogenic / likely-pathogenic of 945 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Citrullinemia type I
• Citrullinemia
• ASS1-related disorder
• Thyroid cancer, nonmedullary, 1
• See cases

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)

0.98

gnomAD pLI

0

gnomAD missense Z

0.76

DepMap mean gene effect

-0.22

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

• acute-phase response
• aspartate metabolic process
• cellular response to amine stimulus
• cellular response to amino acid stimulus
• cellular response to ammonium ion
• cellular response to cAMP
• cellular response to dexamethasone stimulus
• cellular response to glucagon stimulus
• cellular response to laminar fluid shear stress
• cellular response to lipopolysaccharide
• cellular response to oleic acid
• cellular response to tumor necrosis factor
• cellular response to type II interferon
• circadian rhythm
• citrulline metabolic process
• diaphragm development
• kidney development
• L-arginine biosynthetic process
• liver development
• midgut development
• negative regulation of leukocyte cell-cell adhesion
• positive regulation of nitric oxide biosynthetic process
• response to estradiol
• response to growth hormone
• response to mycotoxin
• response to nutrient
• response to xenobiotic stimulus
• response to zinc ion
• urea cycle
• argininosuccinate metabolic process

Molecular functions

• amino acid binding
• ATP binding
• identical protein binding
• RNA binding
• toxic substance binding
• argininosuccinate synthase activity

Cellular components

• cell body fiber
• cytoplasm
• cytosol
• extracellular exosome
• mitochondrial outer membrane
• nucleoplasm
• perikaryon

Protein domainsUniProt · Pfam · InterPro

• Rossmann-like alpha/beta/alpha sandwich fold
• Argininosuccinate synthase
• Argininosuccinate synthase, conserved site
• Argininosuccinate synthase, type 1 subfamily
• Argininosuccinate synthetase, catalytic/multimerisation domain body
• Arginosuccinate synthase-like, N-terminal domain
• Arginosuccinate synthase C-terminal domain
• Arginosuccinate synthase N-terminal HUP domain
• Arginosuccinate synthase C-terminal domain

KeywordsUniProt

• Acetylation
• Amino-acid biosynthesis
• Arginine biosynthesis
• ATP-binding
• Cytoplasm
• Ligase
• Nucleotide-binding
• Phosphoprotein
• Urea cycle

InteractionsUniProt · HPA

Protein binding partners of ASS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLOCK
• NMRAL1
• GAPDH