InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTAP

Summary

InnateDB Protein

IDBP-54406.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTAP

Protein Name

methylthioadenosine phosphorylase

Synonyms

BDMF; c86fus; DMSFH; DMSMFH; HEL-249; LGMBF; MSAP;

Species

Homo sapiens

Ensembl Protein

ENSP00000369519

InnateDB Gene

IDBG-54400 (MTAP)

Protein Structure

UniProt Annotation

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. {ECO:0000255HAMAP-Rule:MF_03155, ECO:0000269PubMed:3091600}.

Subcellular Localization

Cytoplasm. Nucleus {ECO:0000255HAMAP- Rule:MF_03155}.

Disease Associations

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. {ECO:0000269PubMed:22464254}. 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). {ECO:0000269PubMed: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.

Tissue Specificity

Ubiquitously expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	22 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004645	phosphorylase activity
GO:0017061	S-methyl-5-thioadenosine phosphorylase activity

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0006139	nucleobase-containing compound metabolic process
GO:0006166	purine ribonucleoside salvage
GO:0006595	polyamine metabolic process
GO:0009116	nucleoside metabolic process
GO:0019509	L-methionine biosynthetic process from methylthioadenosine
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process