• Gene id: 4507

Gene Summary

• Gene Symbol: MTAP   Gene   UCSC   Ensembl
• Aliases: BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus
• Gene name: methylthioadenosine phosphorylase
• Alternate names: S-methyl-5'-thioadenosine phosphorylase, 5'-methylthioadenosine phosphorylase, MTA phosphorylase, MTAPase, MeSAdo phosphorylase, epididymis luminal protein 249, epididymis secretory sperm binding protein,
• Gene location: 9p21.3 (21802635: 21867080)     Exons: 8     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 139080

Protein Summary

• Protein general information: Q13126  
  • Name: S methyl 5' thioadenosine phosphorylase (EC 2.4.2.28) (5' methylthioadenosine phosphorylase) (MTA phosphorylase) (MTAP) (MTAPase)
  • Length: 283  
  • Mass: 31236
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MASGTTTTAVKIGIIGGTGLDDPEILEGRTEKYVDTPFGKPSDALILGKIKNVDCVLLARHGRQHTIMPSKVNYQ
  ANIWALKEEGCTHVIVTTACGSLREEIQPGDIVIIDQFIDRTTMRPQSFYDGSHSCARGVCHIPMAEPFCPKTRE
  VLIETAKKLGLRCHSKGTMVTIEGPRFSSRAESFMFRTWGADVINMTTVPEVVLAKEAGICYASIAMATDYDCWK
  EHEEAVSVDRVLKTLKENANKAKSLLLTTIPQIGSTEWSETLHNLKNMAQFSVLLPRH

• Structural information:
  • Interpro: IPR010044  IPR000845  IPR035994  IPR018099  
  • Prosite: PS01240
  • PDB: 1CB0 1CG6 1K27 1SD1 1SD2 3LN5 3OZC 3OZD 3OZE 5EUB 5TC5 5TC6 5TC7 5TC8 6DYZ 6DZ0 6DZ2 6DZ3
  • PDBsum: 1CB0 1CG6 1K27 1SD1 1SD2 3LN5 3OZC 3OZD 3OZE 5EUB 5TC5 5TC6 5TC7 5TC8 6DYZ 6DZ0 6DZ2 6DZ3
  • STRING: ENSP00000369519
• Other Databases: GeneCards:  MTAP  Malacards:  MTAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019509	L-methionine salvage from methylthioadenosine	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004731	purine-nucleoside phosphorylase activity	IBA	molecular function
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016763	transferase activity, transferring pentosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004645	1,4-alpha-oligoglucan phosphorylase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032259	methylation	IEA	biological process
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0006738	nicotinamide riboside catabolic process	IDA	NOT|biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00270	Cysteine and methionine metabolism

Diseases

Associated diseases	References
biliary tract benign neoplasm	PMID:16373701
pancreatic cancer	PMID:15534104
common bile duct neoplasm	PMID:15662124
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881