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MTAP Gene

protein-coding   GIFtS: 67
GCID: GC09P021792

Methylthioadenosine Phosphorylase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylthioadenosine Phosphorylase1 2     DMSFH2
S-Methyl-5'-Thioadenosine Phosphorylase1 2     HEL-2492
5'-Methylthioadenosine Phosphorylase2 3     LGMBF2
MSAP2 3     c86fus2
MTAPase2 3     Epididymis Luminal Protein 2492
MTA Phosphorylase2 3     MeSAdo Phosphorylase2
DMSMFH2 5     EC 2.4.2.283
BDMF2     

External Ids:    HGNC: 74131   Entrez Gene: 45072   Ensembl: ENSG000000998107   OMIM: 1565405   UniProtKB: Q131263   

Export aliases for MTAP gene to outside databases

Previous GC identifers: GC09P022130 GC09P022003


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTAP Gene:
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of
both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor
suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for
this gene, but their full-length natures remain unknown. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTAP Gene:
MTAP (methylthioadenosine phosphorylase) is a protein-coding gene. Diseases associated with MTAP include diaphyseal medullary stenosis with malignant fibrous histiocytoma, and acute lymphoblastic leukemia, childhood. GO annotations related to this gene include S-methyl-5-thioadenosine phosphorylase activity and phosphorylase activity. An important paralog of this gene is ENSG00000264545.

UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126
Function: Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and
5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis.
Responsible for the first step in the methionine salvage pathway after MTA has been generated from
S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates

Gene Wiki entry for MTAP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTAP gene promoter:
         Lmo2   AP-4   LUN-1   HNF-3beta   GATA-1   AREB6   FOXO1a   IRF-7A   FOXO1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTAP promoter sequence
   Search Chromatin IP Primers for MTAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21

MTAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTAP gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P021792:  view genomic region     (about GC identifiers)

Start:
21,802,542 bp from pter      End:
21,931,646 bp from pter
Size:
129,105 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126 (See protein sequence)
Recommended Name: S-methyl-5'-thioadenosine phosphorylase  
Size: 283 amino acids; 31236 Da
Subunit: Homotrimer
Selected PDB 3D structures from and Proteopedia for MTAP (see all 9):
1CB0 (3D)        1CG6 (3D)        1K27 (3D)        1SD1 (3D)        1SD2 (3D)        3LN5 (3D)    
Secondary accessions: I2G7M5 I2G7M6 I2G7M7 I2G7M8 I2G7M9 I2G7N0 Q5T3P3 Q9H010
Alternative splicing: 7 isoforms:  Q13126-1   Q13126-2   Q13126-3   Q13126-4   Q13126-5   Q13126-6   Q13126-7   

Explore the universe of human proteins at neXtProt for MTAP: NX_Q13126

Explore proteomics data for MTAP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys40, Lys71
  • Modification sites at PhosphoSitePlus

  • See MTAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002442.2  
    ENSEMBL proteins: 
     ENSP00000369519   ENSP00000461932   ENSP00000463424   ENSP00000393507   ENSP00000464616  
     ENSP00000462082  
    Reactome Protein details: Q13126

    MTAP Human Recombinant Protein Products:

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    Novus Biologicals MTAP Proteins
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    Cloud-Clone Corp. Proteins for MTAP

    MTAP Antibody Products:

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    MTAP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MTAP
    Cloud-Clone Corp. CLIAs for MTAP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR018099 Purine_phosphorylase-2_CS
     IPR010044 MTAP
     IPR001369 PNP/MTAP
     IPR000845 Nucleoside_phosphorylase_d

    Graphical View of Domain Structure for InterPro Entry Q13126

    ProtoNet protein and cluster: Q13126

    1 Blocks protein domain: IPB001369 Purine (and other) phosphorylase

    UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126
    Similarity: Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily


    MTAP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTAP_HUMAN, Q13126
    Function: Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and
    5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis.
    Responsible for the first step in the methionine salvage pathway after MTA has been generated from
    S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates
    Catalytic activity: S-methyl-5'-thioadenosine + phosphate = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate
    Enzyme regulation: Inhibited by 5'-methylthiotubercin and 5'-chloroformycin
    Biophysicochemical properties: Kinetic parameters: KM=5 uM for S-methyl-5'-thioadenosine; KM=580 uM for phosphate;
    KM=23 uM for adenine; KM=8 uM for S-methyl-5-thio-alpha-D-ribose 1-phosphate; pH dependence: Optimum pH is
    7.2-7.6;

         Genatlas biochemistry entry for MTAP:
    methylthioadenosine phosphorylase,purine catabolic pathway,often co-deleted with CDKN2A in adult acute T cell type
    leukemia

         Enzyme Number (IUBMB): EC 2.4.2.281

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004645phosphorylase activity IEA--
    GO:0017061S-methyl-5-thioadenosine phosphorylase activity TAS--
         
    MTAP for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mtap):
     cardiovascular system  hearing/vestibular/ear  immune system  liver/biliary system  mortality/aging 
     respiratory system 

    MTAP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTAP

    miRNA
    Products:
        
    miRTarBase miRNAs that target MTAP:
    hsa-mir-34a-5p (MIRT025319), hsa-mir-155-5p (MIRT020610), hsa-mir-21-5p (MIRT000961)

    Block miRNA regulation of human, mouse, rat MTAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTAP (see all 13):
    hsa-miR-3149 hsa-miR-320a hsa-miR-3611 hsa-miR-320d hsa-miR-4290 hsa-miR-646 hsa-miR-21 hsa-miR-1248
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MTAP

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MTAP (NM_002451)
    Sino Biological Human cDNA Clone for MTAP
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTAP

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTAP_HUMAN, Q13126: Cytoplasm. Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    MTAP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MTAP About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Methionine salvage pathway0.00
    Metabolism of polyamines0.00
    Metabolism of amino acids and derivatives
    S-methyl-5-thioadenosine degradation II0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MTAP
        Glucose / Energy Metabolism

    1 BioSystems Pathway for MTAP
        S-methyl-5-thioadenosine degradation II


    1 Reactome Pathway for MTAP
        Methionine salvage pathway


    2 Kegg Pathways  (Kegg details for MTAP):
        Cysteine and methionine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126
    Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; S-methyl-5-thio-alpha-D-ribose
    1-phosphate from S-methyl-5'-thioadenosine (phosphorylase route): step 1/1


    MTAP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MTAP: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MTAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MTAP (Q131262, 3 ENSP000003695194) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYLIPQ8WY642, 3, ENSP000003492984MINT-14705 MINT-14706 I2D: score=2 STRING: ENSP00000349298
    MAP1LC3AQ9H4923, ENSP000003639704I2D: score=1 STRING: ENSP00000363970
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NRBF2Q96F243I2D: score=1 
    PIK3C2AO004433I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006139nucleobase-containing compound metabolic process TAS8687427
    GO:0006166purine ribonucleoside salvage IEA--
    GO:0006595polyamine metabolic process TAS--
    GO:0006738NOT nicotinamide riboside catabolic process IDA19001417

    MTAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTAP

    9 HMDB Compounds for MTAP    About this table
    CompoundSynonyms CAS #PubMed Ids
    5'-Methylthioadenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-D-Ribofuranose (see all 14)2457-80-9--
    5-Methylthioribose 1-phosphate1-phospho-5-S-methylthioribose (see all 11)72843-83-5--
    Adenine1,6-Dihydro-6-iminopurine (see all 19)73-24-5--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    5 DrugBank Compounds for MTAP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    5'-Deoxy-5'-(Methylthio)-Tubercidin-- --target--17139284 17016423 10592235
    Adenine1H-Purin-6-amine (see all 5)73-24-5target--16631464 17041099 17090056
    (1s)-1-(9-Deazaadenin-9-Yl)-1,4,5-Trideoxy-1,4-Imino-5-Methylthio-D-Ribitol-- --target--17139284 17016423
    5'-Deoxy-5'-Methylthioadenosine-- --target--17139284 17016423
    Formycin-- 6742-12-7target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for MTAP gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-methylthioadenosine 98.7 317 1904005 (7), 7507266 (5), 1908523 (4), 12664268 (4) (see all 99)
    l-alanosine 96.8 36 15301428 (4), 11763167 (3), 12200696 (3), 9815702 (3) (see all 12)
    5-methylthioribose-1-phosphate 92.9 11 19478948 (1), 2153115 (1), 10404592 (1), 15313459 (1)
    5-deoxyadenosine 81.9 10 9815702 (3), 16234352 (1), 10197619 (1)
    adenine 78.1 49 1895956 (2), 9351982 (2), 12796375 (1), 19478948 (1) (see all 26)
    purine 78 44 16373701 (3), 8971171 (3), 16224217 (2), 9351982 (2) (see all 22)
    6-methylmercaptopurine riboside 74 2 15301428 (2)
    4-methylthio-2-oxobutanoic acid 70.3 2 12907234 (1)
    methionine 69.7 46 8971171 (3), 11895909 (2), 14506228 (2), 9351982 (2) (see all 24)
    adenylosuccinate 64.6 2 8054268 (1), 16778103 (1)



    MTAP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MTAP gene: 
    NM_002451.3  

    Unigene Cluster for MTAP:

    Methylthioadenosine phosphorylase
    Hs.193268  [show with all ESTs]
    Unigene Representative Sequence: NM_002451
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380172(uc003zph.3 uc010mit.3 uc011lnk.2 uc011lnl.2)
    ENST00000460874 ENST00000580675 ENST00000580900 ENST00000419385 ENST00000580718
    ENST00000579422 ENST00000427788 ENST00000577563 ENST00000584988 ENST00000581962
    ENST00000484957
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MTAP (see all 13):
    hsa-miR-3149 hsa-miR-320a hsa-miR-3611 hsa-miR-320d hsa-miR-4290 hsa-miR-646 hsa-miR-21 hsa-miR-1248
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MTAP (NM_002451)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTAP
    Primer
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    OriGene qPCR primer pairs and template standards for MTAP
    OriGene qSTAR qPCR primer pairs in human, mouse for MTAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTAP
      QuantiTect SYBR Green Assays in human, mouse, rat MTAP
      QuantiFast Probe-based Assays in human, mouse, rat MTAP

    Additional mRNA sequence: 

    AB062485.1 AF216650.1 AK024734.1 AK300592.1 AK309365.1 BC012316.1 BC018625.1 BC026106.1 
    BC032739.1 CR541670.1 CR541710.1 HE654772.1 HE654773.1 HE654774.1 HE654775.1 HE654776.1 
    HE654777.1 L40432.1 U22233.1 

    13 DOTS entries:

    DT.207070  DT.442366  DT.75102121  DT.437132  DT.86843249  DT.100774607  DT.121147258  DT.100718885 
    DT.121147244  DT.95094488  DT.99970764  DT.75114787  DT.95163181 

    Selected AceView cDNA sequences (see all 161):

    AI859912 AA574246 AI565982 AI094012 BF437839 BQ232183 CD364939 AI085712 
    AI469962 CD364946 BU194717 AL048242 AA748771 NM_002451 BX502178 BM459757 
    CA440131 AI674711 BQ220538 BU753006 AI090612 AA741291 BX372529 BM983491 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGAAAAAA
    MTAP Expression
    About this image


    MTAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Lung (Respiratory System)
             Trachea
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    MTAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.193268

    UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including MTAP: 
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MTAP
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MTAP gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtap1 , 5 methylthioadenosine phosphorylase1, 5 87.63(n)1
    93.64(a)1
      4 (42.15 cM)5
    669021  NM_024433.21  NP_077753.11 
     891371225 
    chicken
    (Gallus gallus)
    Aves MTAP1 methylthioadenosine phosphorylase 78.22(n)
    83.03(a)
      431261  NM_001031604.2  NP_001026775.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    S-methyl-5'-thioadenosine phosphorylase
    82(a)
    1 → many
    2(61441557-61470986)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128782 Xenopus laevis transcribed sequence with moderate similarity more 78.69(n)    CD361427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660122 hypothetical protein MGC66012 77.72(n)   393526  BC046035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG48021 , 3 phosphorylation 5'-methylthioadenosine
    phosphorylase3
    CG48021
    61(a)3
    60.46(n)1
    61.98(a)1
      54B133
    369551  NM_001274120.11  NP_001261049.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0228.71 , 3 B0228.71 49(a)3
    51.73(n)1
    50.74(a)1
      II(7757152-7758302)3
    1742521  NM_063228.61  NP_495629.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEU1(YLR017W)4
    MEU11
    Methylthioadenosine phosphorylase (MTAP), catalyzes more4
    MEU11
    46.85(n)1
    38.19(a)1
      12(177608-178621)4
    8507041, 4  NP_013117.11, 4 


    ENSEMBL Gene Tree for MTAP (if available)
    TreeFam Gene Tree for MTAP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTAP gene
    ENSG000002645452  

    MTAP for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for MTAP
    PGOHUM00000263116 PGOHUM00000237901 PGOHUM00000263230


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTAP (see all 1695)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs800069611,2
    C--21789541(+) ATTTTC/TTTTTT 1 -- int10--------
    rs1397881321,2
    --21795438(+) TCAGGA/CACTAC 1 -- us2k10--------
    rs1917765501,2
    --21795472(+) AGACCC/TCGACC 1 -- us2k10--------
    rs777668461,2
    C--21795584(+) CACATG/TTAAGT 1 -- us2k10--------
    rs1498232181,2
    --21795637(+) CATCAC/TATCTT 1 -- us2k10--------
    rs1878131661,2
    --21795667(+) CCTAAC/TCTGCA 1 -- us2k10--------
    rs105117001,2
    C,F,H--21795758(+) ACAGGA/TTCTAA 1 -- us2k118Minor allele frequency- T:0.19NS EA NA WA CSA 890
    rs1924427501,2
    --21795765(+) CTAACC/TTGGTT 1 -- us2k10--------
    rs3776100861,2
    C--21795771(+) TTGGT-/ACACAACG 1 -- us2k10--------
    rs1458400311,2
    --21795838(+) AAGTCA/CCTTAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MTAP (21802542 - 21931646 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MTAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv8426CNV Loss18304495
    esv33626CNV Loss17666407
    nsv892745CNV Gain21882294

    Human Gene Mutation Database (HGMD): MTAP
    Site Specific Mutation Identification with PCR Assays
    2 Copy Number PCR Panels containing MTAP:
    Oncogenes & Tumor Suppressor Genes 384HC
    Gastric Cancer
    SeqTarget long-range PCR primers for resequencing MTAP
    DNA2.0 Custom Variant and Variant Library Synthesis for MTAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 156540   
    OMIM disorders: 112250  
    UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) [MIM:112250]: An autosomal
    dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal
    medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some
    patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals
    develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma.
    Note=The disease is caused by mutations affecting the gene represented in this entry. DMSMFH causing mutations
    found in MTAP exon 9 result in exon skipping and dysregulated alternative splicing of all MTAP isoforms
    (PubMed:22464254)
  • Note=Loss of MTAP activity may play a role in human cancer. MTAP loss has been reported in a number of
    cancers, including osteosarcoma, malignant melanoma and gastric cancer

  • Selected diseases for MTAP (see all 62):    
    About MalaCards
    diaphyseal medullary stenosis with malignant fibrous histiocytoma    acute lymphoblastic leukemia, childhood    klebsiella    fibrous histiocytoma
    histiocytoma    chondrosarcoma    myxoid chondrosarcoma    lymphoblastic leukemia
    chordoma    malignant mesothelioma    progressive supranuclear palsy    soft tissue sarcoma
    adult t-cell leukemia    mycosis fungoides    gastrointestinal stromal tumor    multiple system atrophy
    mantle cell lymphoma    gastric adenocarcinoma    keratosis    cutaneous malignant melanoma


    MTAP for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MTAP gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    t-all 64.2 36 10197619 (4), 9815702 (3), 8874207 (3), 10803528 (2) (see all 8)
    enzyme deficiency 62.2 6 17912432 (2), 11985785 (1), 15753993 (1)
    glioma 52.1 7 1904005 (2), 11763167 (1), 11126361 (1), 7683574 (1) (see all 5)
    chondrosarcoma 50.2 5 8689637 (1), 16631464 (1)
    tumors 49 103 19478948 (4), 15301428 (4), 11895909 (3), 12438261 (3) (see all 41)
    allelic imbalance 48.9 1 18712977 (1)
    multiple tumors 47.2 1 7604019 (1)
    lymphoblastic leukemia acute 47.2 5 16818274 (1), 7683574 (1), 8874207 (1)
    melanoma 46 20 12875987 (6), 16618867 (2), 17537037 (2), 20140953 (1) (see all 9)
    mesothelioma 45.3 10 20081810 (2), 17041099 (2), 12796375 (1), 18618081 (1) (see all 6)

    Genetic Association Database (GAD): MTAP
    Human Genome Epidemiology (HuGE) Navigator: MTAP (12 documents)

    Export disorders for MTAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTAP gene, integrated from 10 sources (see all 187):
    (articles sorted by number of sources associating them with MTAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population. (PubMed id 11985785)1, 4, 9 Kadariya Y....Nobori T. (Jpn. J. Cancer Res. 2002)
    2. Homozygous deletion of MTAP gene as a poor prognosticator in gastrointestinal stromal tumors. (PubMed id 19887491)1, 4, 9 Huang H.Y....Li C.F. (Clin. Cancer Res. 2009)
    3. Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers. (PubMed id 8650244)1, 2, 9 Nobori T....Carson D.A. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    4. The structure of human 5'-deoxy-5'-methylthioadenosine phosphorylase at 1.7-A resolution provides insights into substrate binding and catalysis. (PubMed id 10404592)1, 2, 9 Appleby T.C.... Ealick S.E. (Structure 1999)
    5. MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans. (PubMed id 19272367)1, 4, 9 Yang X.C....Wang X.F. (Clin. Biochem. 2009)
    6. MTAP gene is associated with ischemic stroke in Chinese Hans. (PubMed id 19427650)1, 4, 9 Li S.J....Wang X.F. (J. Neurol. Sci. 2009)
    7. Methylthioadenosine phosphorylase gene deletions are frequently detected by fluorescence in situ hybridization in conventional chondrosarcomas. (PubMed id 16631464)1, 7, 9 Chow W.A....Slovak M.L. (Cancer Genet. Cytogenet. 2006)
    8. A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer. (PubMed id 11126361)1, 3, 9 Schmid M....Carson D.A. (Oncogene 2000)
    9. Genome-wide association study identifies three loci associated with melanoma risk. (PubMed id 19578364)1, 4, 9 Bishop D.T....Bishop J.A. (Nat. Genet. 2009)
    10. Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. (PubMed id 19578365)1, 4, 9 Falchi M....Spector T.D. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4507 HGNC: 7413 AceView: MTAP Ensembl:ENSG00000099810 euGenes: HUgn4507
    ECgene: MTAP Kegg: 4507 H-InvDB: MTAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTAP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MTAP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTAP gene:
    Search GeneIP for patents involving MTAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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