MTAP
entrez
4507
canonical
uniprot
Q13126
canonical
ensembl
ENSG00000099810
resolver
ensp
ENSP00000461932
resolver
ensp
ENSP00000463424
resolver
ensp
ENSP00000494373
resolver
ensp
ENSP00000790102
resolver
ensp
ENSP00000795115
resolver
enst
ENST00000460874
resolver
genesymbol
MTAP
resolver
genesymbol_syn
MSAP
resolver
hgnc
HGNC:7413
resolver
uniprot
A0A384ME80
resolver
uniprot
B4DUC8
resolver
uniprot
I2G7M5
resolver
uniprot
I2G7M6
resolver
uniprot
I2G7M7
resolver
uniprot
I2G7M8
resolver
uniprot
I2G7M9
resolver
uniprot
I2G7N0
resolver
uniprot
J3KRC7
resolver
uniprot
Q5T3P3
resolver
uniprot
Q9H010
resolver
uniprot_entry
A0A384ME80_HUMAN
resolver
uniprot_entry
B4DUC8_HUMAN
resolver
uniprot_entry
J3KRC7_HUMAN
resolver
uniprot_entry
MTAP_HUMAN
resolver
uniprot_sec
I2G7M5
resolver
uniprot_sec
I2G7M6
resolver
uniprot_sec
I2G7M7
resolver
uniprot_sec
I2G7M8
resolver
uniprot_sec
I2G7M9
resolver
uniprot_sec
I2G7N0
resolver
uniprot_sec
Q5T3P3
resolver
uniprot_sec
Q9H010
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 5'-methylthiotubercin and 5'-chloroformycin. {ECO:0000269|PubMed:15122881}.
uniprot
proteins
amino_acid_sequence
MASGTTTTAVKIGIIGGTGLDDPEILEGRTEKYVDTPFGKPSDALILGKIKNVDCVLLARHGRQHTIMPSKVNYQANIWALKEEGCTHVIVTTACGSLREEIQPGDIVIIDQFIDRTTMRPQSFYDGSHSCARGVCHIPMAEPFCPKTREVLIETAKKLGLRCHSKGTMVTIEGPRFSSRAESFMFRTWGADVINMTTVPEVVLAKEAGICYASIAMATDYDCWKEHEEAVSVDRVLKTLKENANKAKSLLLTTIPQIGSTEWSETLHNLKNMAQFSVLLPRH
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22464254}. Note=The disease is caused by variants 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:0000269|PubMed:22464254}.; DISEASE: 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.
uniprot
proteins
ec_number
2.4.2.28
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorolytic cleavage of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose1-phosphate (PubMed:3091600, PubMed:8687427, PubMed:10404592). Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis (PubMed:3091600, PubMed:8687427, PubMed:10404592). Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine (PubMed:3091600, PubMed:8687427, PubMed:10404592). Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates (PubMed:10404592). {ECO:0000255|HAMAP-Rule:MF_03155, ECO:0000269|PubMed:10404592, ECO:0000269|PubMed:3091600, ECO:0000269|PubMed:8687427}.
uniprot
proteins
mass_dalton
31236
uniprot
proteins
pathway_participation
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. {ECO:0000255|HAMAP-Rule:MF_03155}.
uniprot
proteins
protein_family
MTAP subfamily
uniprot
proteins
protein_family
PNP/MTAP phosphorylase family
uniprot
proteins
pubmed
10404592
uniprot
proteins
pubmed
11895909
uniprot
proteins
pubmed
14705926
uniprot
proteins
pubmed
15122881
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17912432
uniprot
proteins
pubmed
19097084
uniprot
proteins
pubmed
20934997
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21412930
uniprot
proteins
pubmed
22464254
uniprot
proteins
pubmed
30860833
uniprot
proteins
pubmed
3091600
uniprot
proteins
pubmed
7604019
uniprot
proteins
pubmed
8650244
uniprot
proteins
pubmed
8687427
uniprot
proteins
sequence_length
283
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000255|HAMAP-Rule:MF_03155}.
uniprot
proteins