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  2. MTAP - methylthioadenosine phosphorylase Gene

MTAP - methylthioadenosine phosphorylase Gene

中文名称:甲硫腺苷磷酸化酶

种属: Homo sapiens

同用名: BDMF; MSAP; DMSFH; LGMBF; DMSMFH; c86fus; HEL-249

基因 ID: 4507 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的酶在多胺代谢中起主要作用,对腺嘌呤和甲硫氨酸的补救途径很重要。编码的酶在许多癌症中都存在缺陷。已针对该基因描述了多个选择性剪接的转录物变体。[RefSeq 提供,2021 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in nicotinamide riboside catabolic process IDA
IDA: 通过直接分析推断
19001417 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MTAP 蛋白结构

PNP_UDP_1

PNP_UDP_1: Phosphorylase superfamily (11 - 255)

  • 0
  • 100
  • 200
  • 283 a.a.
蛋白主名 其他名称

S-methyl-5'-thioadenosine phosphorylase

5'-methylthioadenosine phosphorylase

MTAP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MTAP Q13126 CENPH Homo sapiens Q9H3R5
Y2H Array
25416956
种属内
MTAP Q13126 CENPH Homo sapiens Q9H3R5
Validated Y2H
25416956
种属内
MTAP Q13126 EMC3 Homo sapiens Q9P0I2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

MTAP 抗体

目录号 产品名 应用 反应物种
HY-P83340 MTAP Antibody (YA3085) WB Human, Mouse

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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