Seroatlas · Human Serome Atlas

MTAP

S-methyl-5'-thioadenosine phosphorylase

Also known as: c86fus, MSAP, MTAP_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q13126
Gene: MTAP
Ensembl: ENSG00000099810
Chromosome: 9
Canonical length: 283 aa
Protein class: Disease related genes, Enzymes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homotrimer

OverviewNCBI Gene

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]

Canonical amino-acid sequenceUniProt

283 residues, UniProt reviewed canonical sequence.

>Q13126|MTAP
     1  MASGTTTTAV KIGIIGGTGL DDPEILEGRT EKYVDTPFGK PSDALILGKI KNVDCVLLAR
    61  HGRQHTIMPS KVNYQANIWA LKEEGCTHVI VTTACGSLRE EIQPGDIVII DQFIDRTTMR
   121  PQSFYDGSHS CARGVCHIPM AEPFCPKTRE VLIETAKKLG LRCHSKGTMV TIEGPRFSSR
   181  AESFMFRTWG ADVINMTTVP EVVLAKEAGI CYASIAMATD YDCWKEHEEA VSVDRVLKTL
   241  KENANKAKSL LLTTIPQIGS TEWSETLHNL KNMAQFSVLL PRH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTAP 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: 10 nTPM

Expression across tissuesHPA

Tissue

liver: 10 nTPM
urinary bladder: 9.4 nTPM
ovary: 9.3 nTPM
placenta: 8.4 nTPM
smooth muscle: 8.4 nTPM
endometrium: 8.2 nTPM

Single-cell type

late primary spermatocytes: 29 nCPM
early spermatids: 19 nCPM
conjunctival goblet cells: 13 nCPM
erythrocyte progenitors: 11 nCPM
megakaryocyte-erythroid progenitors: 10 nCPM
medullary thymic epithelial cells: 9.6 nCPM

Immune cell

naive B-cell: 8.5 nTPM
NK-cell: 6.9 nTPM
myeloid DC: 6.8 nTPM
plasmacytoid DC: 6.3 nTPM
MAIT T-cell: 6.1 nTPM
memory B-cell: 6 nTPM

Brain region

choroid plexus: 29 nTPM
white matter: 25 nTPM
cerebral cortex: 25 nTPM
medulla oblongata: 25 nTPM
thalamus: 24 nTPM
pons: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTAP.

Disease | AllUniProt

Conditions MTAP is implicated in, by any mechanism.

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) MIM:112250

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 190 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Diaphyseal medullary stenosis-bone malignancy syndrome

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): 1.39
gnomAD pLI: 0
gnomAD missense Z: -0.02
DepMap mean gene effect: -0.07
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Nucleoside phosphorylase domain
Purine phosphorylase, family 2, conserved site
Nucleoside phosphorylase superfamily
Phosphorylase superfamily
Methylthioadenosine phosphorylase (MTAP)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

MTAP 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 MTAP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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