MTAP - methylthioadenosine phosphorylase Gene

Also Known as BDMF; MSAP; DMSFH; LGMBF; DMSMFH; c86fus; HEL-249

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4507

About MTAP

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:21,802,636-21,941,115 (from NCBI)

This gene has 13 transcripts (splice variants), 236 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 5.5), esophagus (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]

MTAP Products (7)

mRNA Protein Name
NM_001396040.1 NP_001382969.1 S-methyl-5'-thioadenosine phosphorylase isoform 2
NM_001396041.1 NP_001382970.1 S-methyl-5'-thioadenosine phosphorylase isoform 3
NM_001396042.1 NP_001382971.1 S-methyl-5'-thioadenosine phosphorylase isoform 4
NM_001396043.1 NP_001382972.1 S-methyl-5'-thioadenosine phosphorylase isoform 5
NM_001396044.1 NP_001382973.1 S-methyl-5'-thioadenosine phosphorylase isoform 6
NM_001396045.1 NP_001382974.1 S-methyl-5'-thioadenosine phosphorylase isoform 7
NM_002451.4 NP_002442.2 S-methyl-5'-thioadenosine phosphorylase isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
NOT involved in nicotinamide riboside catabolic process IDA
IDA: Inferred from direct assay
19001417 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTAP Protein Structure

PNP_UDP_1

PNP_UDP_1: Phosphorylase superfamily (11 - 255)

  • 0
  • 100
  • 200
  • 283 a.a.
Protein Preferred Names Protein Names

S-methyl-5'-thioadenosine phosphorylase

  • 5'-methylthioadenosine phosphorylase

MTAP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MTAP Q13126 CENPH Homo sapiens Q9H3R5 25416956
Intra
MTAP Q13126 CENPH Homo sapiens Q9H3R5 25416956
Intra
MTAP Q13126 EMC3 Homo sapiens Q9P0I2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

MTAP Antibodies

Cat. No. Product Name Application Reactivity
HY-P83340 MTAP Antibody (YA3085) WB Human, Mouse
HY-P83340A MTAP Antibody (YA3085)(PBS only) WB Human, Mouse

Related Diseases

Diseases Alias
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
  • DMSMFH

  • Bone Dysplasia With Medullary Fibrosarcoma

  • Bdmf

  • Bone Dysplasia With Malignant Fibrous Histiocytoma

  • Hardcastle Syndrome

  • Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome

  • Myopathy, Limb-Girdle, With Bone Fragility

  • Bone Dysplasia-Medullary Fibrosarcoma Syndrome

  • Diaphyseal Medullary Stenosis-Malignant Fibrous Histiocytoma Syndrome

  • Dms-Mfh

  • Limb-Girdle Myopathy With Bone Fragility

  • Stenosis, Medullary, Diaphyseal, With Malignant Fibrous Histiocytoma

Bone Sarcoma
Malignant Fibrous Histiocytoma
  • Undifferentiated Pleomorphic Sarcoma

  • Ups

  • Histiocytoma, Malignant Fibrous

  • Fibroxanthosarcoma

  • Mfh

  • Malignant Fibrohistiocytic Tumors

  • Histiocytoma, Fibrous, Malignant

Fibrous Histiocytoma
  • Benign Fibrous Histiocytoma

  • Histiocytoma, Benign Fibrous

  • Fibroxanthoma

  • Histiocytoma Fibrous

Chondrosarcoma
  • Cartilaginous Cancer

  • Chondrosarcoma Of Bone

  • Primary Chondrosarcoma Of The Bone

  • CHDSA

Benign Mesothelioma
  • Mesothelioma

  • Benign Tumor Of Mesothelium

  • Adenomatoid Tumor

Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Sarcomatoid Mesothelioma
  • Malignant Fibrous Mesothelioma

  • Spindled Mesothelioma

Biliary Tract Cancer
  • Malignant Tumour Of Biliary Tract

  • Biliary Tract Neoplasms

  • Biliary Tract Neoplasm

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Peritoneal Mesothelioma
  • Malignant Mesothelioma Of Peritoneum

  • Advanced Malignant Mesothelioma Of Peritoneum

  • Advanced Malignant Peritoneal Mesothelioma

  • Advanced Peritoneal Malignant Mesothelioma

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Leukemia, Acute Lymphoblastic
  • Acute Lymphoblastic Leukemia

  • ALL

  • Acute Lymphocytic Leukemia

  • Leukemia, Acute Lymphocytic, Susceptibility To, 1

  • Acute Lymphoblastic Leukaemia

  • Precursor Lymphoblastic Lymphoma/Leukemia

  • Precursor Lymphoid Neoplasm

  • Leukemia, Acute Lymphoblastic, Susceptibility To

  • B-Cell Acute Lymphoblastic Leukemia

  • Leukemia, Acute Lymphocytic 1

  • Acute Lymphocytic Leukaemia

  • Acute Lymphoblastic Leukemia/Lymphoma

  • All1

  • Childhood Acute Lymphoblastic Leukemia

  • Leukemia Acute Lymphoblastic 1

  • Leukemia Acute Lymphoblastic B-Hyperdiploid

  • Leukemia Acute Lymphocytic

  • Leukemia Acute Lymphocytic 1

  • Leukemia B-Cell Acute Lymphoblastic

  • Leukemia T-Cell Acute Lymphoblastic

  • Leukemia, Acute Lymphoblastic, 3

  • ALL3

  • Lymphoblastic Leukemia Acute

  • Leukemia, Acute, Lymphoblastic

  • Precursor Cell Lymphoblastic Leukemia Lymphoma

  • Leukemia, Lymphocytic, Acute, L1

  • Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

  • Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • Melanoma, Malignant

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Peritoneum Cancer
  • Peritoneal Neoplasm

  • Cancer Of Peritoneum

  • Malignant Tumor Of Peritoneum

  • Peritoneal Neoplasms

Pleural Cancer
  • Pleural Neoplasms

  • Neoplasm Of Pleura

  • Pleural Tumor

  • Malignant Tumor Of Pleura

  • Pleural Cavity Cancer

  • Primary Malignant Neoplasm Of Parietal Pleura

  • Primary Malignant Neoplasm Of Pleura

  • Primary Malignant Neoplasm Of Visceral Pleura

Myopathy
  • Muscular Diseases

  • Myopathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MTAP RGD RGD:1310114
Felis catus MTAP VGNC VGNC:102952
Macaca mulatta MTAP VGNC VGNC:103835
Canis familiaris MTAP VGNC VGNC:56069
Mus musculus MTAP MGD MGI:1914152
Others MTAP NCBI