Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

MTAP

contributors: mct - updated : 29-06-2016

HGNC name	methylthioadenosine phosphorylase
HGNC id	7413

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HBDFH hereditary bone dysplasia with malignant fibrous histiocytoma
Location	9p21.3      Physical location : 21.802.634 - 21.865.967
Synonym name	MeSAdo phosphorylase
Synonym symbol(s)	MASP, MESADO, c86fus, BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP
EC.number	2.4.2.28

DNA

TYPE	functioning gene
STRUCTURE	63.33 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - IFN1@ - D9S736 - MTAP - CDKN2A - CDKN2B - D9S966 - cen
Authors	Olopade (95),Nobori (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002451 8 - 4937 NP_002442 - 283 - 2013 24324622

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Lymphoid/Immune lymph node       highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , trimer

HOMOLOGY

interspecies

homolog to C.elegans bo2228-7

Homologene

FAMILY

PNP/MTAP family 2 of phosphorylase

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	methylthioadenosine phosphorylase, purine catabolic pathway
	playing a role in polyamine metabolism important for the salvage of both adenine and methionine
	catalyses the reversible phosphorolytic cleavage of methylthioadenosine leading to the production of methylthioribose-1-phosphate and adenine
	may be involved in the prevalence of ischemic stroke
	critical to polyamine metabolism and adenine and methionine salvage pathways and was believed to be encoded as a single transcript from the eight previously described exons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

MTAP deletion confers enhanced dependency on the PRMT5 arginine methyltransferase in cancer cells

cell & other

REGULATION

inhibited by

5prime-methylthiotubercin and 5prime- chloroformycin

Other

regulated by a CBF (CCAAT-binding factor), and distal one of two CCAAT motifs plays a major role in the transcriptional activation of MTAP

ASSOCIATED DISORDERS

corresponding disease(s)

HBDFH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     often codeleted with CDKN2A various malignant cell lines (glioma, lung cancer, leukemia) tumoral     --low   in more aggressive breast tumors constitutional     --low   in hepatocytes in patients with chronic liver disease tumoral       loss of function significantly associated with advanced tumor stages in Nasopharyngeal Carcinoma constitutional       loss of function correlated with human diseases including cirrhosis and hepatocellular carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS