RBCC Red Blood Cell Collection

MTAP_HUMAN

Source: hRBCD ; ID: IPI00011876
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: MTAP , MSAP
Protein names and data: MTAP_HUMAN , S-methyl-5'-thioadenosine phosphorylase; 2.4.2.28 , 5'-methylthioadenosine phosphorylase; MTA phosphorylase; MTAP; MTAPase Lenght: 283 a.a.
Mass: 31236 Da
fasta formatted sequence
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.
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.
Disease: ( OMIM: 112250 156540 ) 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.
Cellular location: Cytoplasm. Nucleus (By similarity).
Tissue specificity: Ubiquitously expressed.

Genetic variants

56 - 56 V -> I (in dbSNP:rs7023954). VAR_031470 7023954

Database cross-references

UniProt: Q13126
Ensembl: ENST00000380172
Ensembl: ENST00000580900
MIM: 112250
MIM: 156540
neXtProt: NX_Q13126
Antibodypedia: Q13126 (may not find the protein thus also not any antibody)
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