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FLASH GENE
Symbol MTAP contributors: mct - updated : 29-06-2016
HGNC name methylthioadenosine phosphorylase
HGNC id 7413
Corresponding disease
HBDFH hereditary bone dysplasia with malignant fibrous histiocytoma
Location 9p21.3      Physical location : 21.802.634 - 21.865.967
Synonym name MeSAdo phosphorylase
Synonym symbol(s) MASP, MESADO, c86fus, BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP
EC.number 2.4.2.28
DNA
TYPE functioning gene
STRUCTURE 63.33 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - IFN1@ - D9S736 - MTAP - CDKN2A - CDKN2B - D9S966 - cen
Authors Olopade (95),Nobori (96)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 4937 - 283 - 2013 24324622
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Lymphoid/Immunelymph node   highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , trimer
HOMOLOGY
interspecies homolog to C.elegans bo2228-7
Homologene
FAMILY PNP/MTAP family 2 of phosphorylase
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • methylthioadenosine phosphorylase, purine catabolic pathway
  • playing a role in polyamine metabolism important for the salvage of both adenine and methionine
  • catalyses the reversible phosphorolytic cleavage of methylthioadenosine leading to the production of methylthioribose-1-phosphate and adenine
  • may be involved in the prevalence of ischemic stroke
  • critical to polyamine metabolism and adenine and methionine salvage pathways and was believed to be encoded as a single transcript from the eight previously described exons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MTAP deletion confers enhanced dependency on the PRMT5 arginine methyltransferase in cancer cells
  • cell & other
    REGULATION
    inhibited by 5prime-methylthiotubercin and 5prime- chloroformycin
    Other regulated by a CBF (CCAAT-binding factor), and distal one of two CCAAT motifs plays a major role in the transcriptional activation of MTAP
    ASSOCIATED DISORDERS
    corresponding disease(s) HBDFH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    often codeleted with CDKN2A various malignant cell lines (glioma, lung cancer, leukemia)
    tumoral     --low  
    in more aggressive breast tumors
    constitutional     --low  
    in hepatocytes in patients with chronic liver disease
    tumoral       loss of function
    significantly associated with advanced tumor stages in Nasopharyngeal Carcinoma
    constitutional       loss of function
    correlated with human diseases including cirrhosis and hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS