Seroatlas · Human Serome Atlas

ASNS

Asparagine synthetase [glutamine-hydrolyzing]

Also known as: ASNS_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P08243
Gene: ASNS
Ensembl: ENSG00000070669
Chromosome: 7
Canonical length: 561 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

561 residues, UniProt reviewed canonical sequence.

>P08243|ASNS
     1  MCGIWALFGS DDCLSVQCLS AMKIAHRGPD AFRFENVNGY TNCCFGFHRL AVVDPLFGMQ
    61  PIRVKKYPYL WLCYNGEIYN HKKMQQHFEF EYQTKVDGEI ILHLYDKGGI EQTICMLDGV
   121  FAFVLLDTAN KKVFLGRDTY GVRPLFKAMT EDGFLAVCSE AKGLVTLKHS ATPFLKVEPF
   181  LPGHYEVLDL KPNGKVASVE MVKYHHCRDV PLHALYDNVE KLFPGFEIET VKNNLRILFN
   241  NAVKKRLMTD RRIGCLLSGG LDSSLVAATL LKQLKEAQVQ YPLQTFAIGM EDSPDLLAAR
   301  KVADHIGSEH YEVLFNSEEG IQALDEVIFS LETYDITTVR ASVGMYLISK YIRKNTDSVV
   361  IFSGEGSDEL TQGYIYFHKA PSPEKAEEES ERLLRELYLF DVLRADRTTA AHGLELRVPF
   421  LDHRFSSYYL SLPPEMRIPK NGIEKHLLRE TFEDSNLIPK EILWRPKEAF SDGITSVKNS
   481  WFKILQEYVE HQVDDAMMAN AAQKFPFNTP KTKEGYYYRQ VFERHYPGRA DWLSHYWMPK
   541  WINATDPSAR TLTHYKSAVK A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASNS 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): 0.19
Highest tissue expression: 114 nTPM

Expression across tissuesHPA

Tissue

pancreas: 114 nTPM
cerebellum: 64 nTPM
cerebral cortex: 63 nTPM
hippocampal formation: 49 nTPM
hypothalamus: 41 nTPM
salivary gland: 39 nTPM

Single-cell type

brain excitatory neurons: 60 nCPM
brain inhibitory neurons: 50 nCPM
other brain neurons: 46 nCPM
oligodendrocyte progenitor cells: 31 nCPM
oligodendrocytes: 21 nCPM
astrocytes: 19 nCPM

Immune cell

T-reg: 14 nTPM
naive CD4 T-cell: 10 nTPM
memory B-cell: 9 nTPM
memory CD4 T-cell: 7.3 nTPM
naive B-cell: 6 nTPM
naive CD8 T-cell: 5.5 nTPM

Brain region

white matter: 97 nTPM
pons: 90 nTPM
cerebral cortex: 87 nTPM
hippocampal formation: 82 nTPM
cerebellum: 76 nTPM
basal ganglia: 75 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASNS.

Disease | AllUniProt

Conditions ASNS is implicated in, by any mechanism.

Asparagine synthetase deficiency (ASNSD) MIM:615574

Disease | GeneticClinVar

167 pathogenic / likely-pathogenic of 840 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Abnormal cerebral morphology
Inborn genetic diseases
Neurodevelopmental delay
ASNS-related disorder

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): 0.74
gnomAD pLI: 0
gnomAD missense Z: 1.86
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

asparagine biosynthetic process
cellular response to glucose starvation
negative regulation of apoptotic process
positive regulation of mitotic cell cycle
L-asparagine biosynthetic process

Molecular functions

Cellular components

cytosol

Protein domainsUniProt · Pfam · InterPro

Asparagine synthase
Rossmann-like alpha/beta/alpha sandwich fold
Glutamine amidotransferase type 2 domain
Nucleophile aminohydrolases, N-terminal
Asparagine synthase
Asparagine synthase, glutamine-hydrolyzing
Asparagine synthase, N-terminal domain
Asparagine Synthetase
Glutamine amidotransferase domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASNS as an antibody target. Whether an autoantibody or antibody against ASNS could matter depends on whether native ASNS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASNS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ASNS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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