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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MTAP Gene

protein-coding GIFtS: 68
GCID: GC09P021792

methylthioadenosine phosphorylase

Explore 64 diseases affiliated with
MTAP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Methylthioadenosine Phosphorylase¹ ²		DMSFH²
MSAP¹ ² ³		DMSMFH²
C86fus¹		LGMBF²
5'-Methylthioadenosine Phosphorylase² ³		MeSAdo Phosphorylase²
MTAPase² ³		S-Methyl-5'-Thioadenosine Phosphorylase²
MTA Phosphorylase² ³		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTAP:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences 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 plasmid: MTAP promoter sequence

Search SABiosciences Chromatin IP Primers for MTAP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:	21,932,738 bp from pter
Size:	130,197 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126 (See protein sequence)

Recommended Name: S-methyl-5'-thioadenosine phosphorylase

Size: 283 amino acids; 31236 Da

Subunit: Homotrimer

Subcellular location: Cytoplasm. Nucleus (By similarity)

6/9 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13126

MTAP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002442.2

ENSEMBL proteins:

ENSP00000369519 ENSP00000461932 ENSP00000463424 ENSP00000393507 ENSP00000464616

ENSP00000462082

Reactome Protein details: Q13126
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals MTAP Proteins Novus Biologicals MTAP Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MTAP

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IEA	--
GO:0005829	cytosol	TAS	--

MTAP for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MTAP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTAP for domains About GeneDecksing

4 InterPro domains/families:

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 family: IPB001369 Purine (and other) phosphorylase

UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126

Similarity: Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		miRTarBase miRNAs that target MTAP: hsa-mir-21 (MIRT000961)

		OriGene 3'-UTR Clone: MTAP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTAP
		8/13 QIAGEN miScript miRNA 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 Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTAP (see all 7) OriGene shRNA RFP: MTAP Browse OriGene siRNA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTAP

Gene Editing
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DNA2.0 Custom Protein Engineering Service for MTAP

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTAP

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004645	phosphorylase activity	IEA	--
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	TAS	--

MTAP for ontologies About GeneDecksing

Animal Models:
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sulfur amino acid metabolism

Sulfur amino acid metabolism

1.00

Cysteine and methionine metabolism

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Methionine salvage pathway

Methionine salvage pathway

1.00

Metabolism of polyamines

0.40

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
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

5 Reactome Pathways for MTAP

	Metabolism of polyamines
	Metabolism
	Methionine salvage pathway
	Sulfur amino acid metabolism
	Metabolism of amino acids and derivatives

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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MTAP

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/19 Interacting proteins for MTAP (Q13126^{2, 3} ENSP00000369519⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYLIP	Q8WY64²^,³, ENSP00000349298⁴	MINT-14705 MINT-14706 I2D: score=2 STRING: ENSP00000349298
MAP1LC3A	Q9H492³, ENSP00000363970⁴	I2D: score=1 STRING: ENSP00000363970
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
NRBF2	Q96F24³	I2D: score=1
PIK3C2A	O00443³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000096	sulfur amino acid metabolic process	TAS	--
GO:0006139	nucleobase-containing compound metabolic process	TAS	8687427
GO:0006166	purine ribonucleoside salvage	IEA	--
GO:0006595	polyamine metabolic process	TAS	--
GO:0006738	NOT nicotinamide riboside catabolic process	IDA	19001417

MTAP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MTAP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTAP

9 HMDB Compounds for MTAP About this table

Compound	Synonyms	CAS #	PubMed Ids
5'-Methylthioadenosine	1-(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-phosphate	1-phospho-5-S-methylthioribose (see all 11)	72843-83-5	--
Adenine	1,6-Dihydro-6-iminopurine (see all 19)	73-24-5	--
N1-Acetylspermine	N'-Acetylspermine (see all 6)	25593-72-0	--
Norspermidine	N-(3-aminopropyl)-1,3-Propanediamine (see all 28)	56-18-8	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Putrescine	1,4-Butanediamine (see all 8)	110-60-1	--
Spermidine	1,5,10-Triazadecane (see all 15)	124-20-9	--
Spermine	1,5,10,14-Tetraazatetradecane (see all 18)	71-44-3	--

5 DrugBank Compounds for MTAP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
5'-Deoxy-5'-(Methylthio)-Tubercidin	--	--	target	--	17139284 17016423 10592235
Adenine	1H-Purin-6-amine (see all 5)	73-24-5	target	--	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	--	6742-12-7	target	--	17139284 17016423

10/28 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about MTAP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

13 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 ENST00000582947

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		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

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTAP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTAP

Additional cDNA 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

24/161 AceView cDNA sequences (see all 161):

NM_002451 CA440131 BF437839 AI674711 AL048242 CD364939 AI469962 AI085712

CD364946 BU194717 AI859912 AI565982 AI090612 BU753006 BM459757 AA741291

AA574246 BX502178 AA748771 AI094012 BQ220538 BQ232183 AK024734 BU509158

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTAP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGGAAAAAA

About this image

MTAP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MTAP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTAP

SOURCE GeneReport for Unigene cluster: Hs.193268

UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126

Tissue specificity: Ubiquitously expressed

SABiosciences Expression via Pathway-Focused PCR Array including MTAP:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTAP

(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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTAP gene from 7/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MTAP¹	methylthioadenosine phosphorylase	78.26(n) 83.33(a)		431261 NM_001031604.2 NP_001026775.2
lizard (Anolis carolinensis)	Reptilia	MTAP⁶	--	82(a)	1 → many	2(61442291-61459080)
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	CG4802^{1 , 3}	phosphorylation 5'-methylthioadenosine phosphorylase³ CG4802¹	61(a)³ 60.56(n)¹ 62.21(a)¹		54B13³ 36955¹ NM_137364.2¹ NP_611208.1¹
worm (Caenorhabditis elegans)	Secernentea	B0228.7^{1 , 3}	Protein B0228.7¹	49(a)³ 51.73(n)¹ 50.74(a)¹		II(7757152-7758302)³ 174252¹ NM_063228.5¹ NP_495629.2¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MEU1(YLR017W)⁴ MEU1¹	Methylthioadenosine phosphorylase (MTAP), catalyzes more⁴ Meu1p¹	47.2(n)¹ 39.08(a)¹		12(177608-178621)⁴ 850704^{1, 4} NP_013117.1^{1, 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)
About This Section

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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1440994^1,2	C,F,A,H,	--	21764647(+)	`AAGGAC/TTCCCT`	1	--	us2k¹		19		NS EA NA WA	1686
rs79449688^1,2	C,	--	21765414(+)	`AAGTCA/CATCCC`	1	--	us2k¹		0	--	--	--	--
rs74316133^1,2	C,	--	21765650(+)	`ATTGGG/ACCAAG`	1	--	us2k¹		3		CSA WA NA	239
rs59828051^1,2	C,F,	--	21766513(+)	`GAAAGA/GCACCC`	1	--	int¹		3		WA	122
rs77757164^1,2	F,	--	21767148(+)	`AGCATC/GTCGAT`	1	--	int¹		1		WA	118
rs112655544^1,2	F,	--	21767224(+)	`AGATTT/AGTTTA`	1	--	int¹		2		CSA	4
rs80123056^1,2	C,	--	21767250(+)	`TTTAAG/ATGAGC`	1	--	int¹		1		WA	2
rs74712588^1,2	C,	--	21767628(+)	`CATTAG/TGCCAC`	1	--	int¹		0	--	--	--	--
rs73429320^1,2	C,F,	--	21768229(+)	`CCAACT/CAGATG`	1	--	int¹		4		WA CSA	124
rs75993021^1,2	C,	--	21768488(+)	`TGTAAC/GACACT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MTAP (21802542 - 21932738 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MTAP
1 CNV: 33079
1 Indel: 11339
Human Gene Mutation Database (HGMD): MTAP

SABiosciences Cancer Mutation PCR Assays

2 SABiosciences qBiomarker Copy Number PCR Arrays containing MTAP:

Oncogenes & Tumor Suppressor Genes 384HC

Gastric Cancer

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

MTAP for disorders About GeneDecksing

OMIM gene information: 156540 OMIM disorders: --

UniProtKB/Swiss-Prot: MTAP_HUMAN, Q13126

Defects in MTAP are the cause of 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=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

20/64 diseases for MTAP (see all 64): About MalaCards

supranuclear palsy progressive supranuclear palsy non-small cell lung carcinoma biliary tract cancer

non-hodgkin lymphoma acute lymphoblastic leukemia, childhood soft tissue sarcoma lymphoblastic leukemia

mycosis fungoides gastrointestinal stromal tumor myxoid chondrosarcoma acute lymphoblastic leukemia

malignant mesothelioma klebsiella oral squamous cell carcinoma mantle cell lymphoma

multiple system atrophy squamous cell carcinoma hodgkin's lymphoma adult t-cell leukemia

1 disease from the University of Copenhagen DISEASES database for MTAP:

Cancer

10/43 Novoseek 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)
About This Section

PubMed articles for MTAP gene, integrated from 9 sources (see all 180):
(articles sorted by number of sources associating them with MTAP)

Utopia: connect your pdf to the dynamic
world of online information

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. (2002)
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. (1996)
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. (1999)
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. (2006)
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. (2000)
Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21. (PubMed id 7604019)^{1, 2, 9} Olopade O.I.... Bohlander S.K. (1995)
Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. (PubMed id 22464254)^{1, 2} Camacho-Vanegas O.... Martignetti J.A. (2012)
Downregulation of methylthioadenosin phosphorylase by homozygous deletion in gastric carcinoma. (PubMed id 21412930)^{1, 2} Kim J....Kim W.H. (2011)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Purification and characterization of recombinant human 5'- methylthioadenosine phosphorylase: definite identification of coding cDNA. (PubMed id 8687427)^{1, 2} Ragione F.D....Zappia V. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

Entrez Gene: 4507	HGNC: 7413	AceView: MTAP	Ensembl:ENSG00000099810	euGenes: HUgn4507
ECgene: MTAP	Kegg: 4507	H-InvDB: MTAP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MTAP	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MTAP	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MTAP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

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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MTAP Gene

methylthioadenosine phosphorylase

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