1. Gene
  2. MTMR3 - myotubularin related protein 3 Gene

MTMR3 - myotubularin related protein 3 Gene

中文名称:肌微管蛋白相关蛋白 3

种属: Homo sapiens

同用名: ZFYVE10; FYVE-DSP1

基因 ID: 8897 | 基因类型: protein coding

关于 MTMR3

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,883,174-30,030,868 (from NCBI)

This gene has 12 transcripts (splice variants), 245 orthologues and 13 paralogues. Ubiquitous expression in bone marrow (RPKM 20.3), testis (RPKM 13.1) and 25 other tissues.

功能概要

该基因编码肌微管蛋白双重特异性蛋白磷酸酶基因家族的成员。编码的蛋白质在结构上类似于肌微管蛋白,但还包含一个 FYVE 结构域和一个 N 端 PH-GRAM 结构域。该蛋白可以自缔合,也可以与另一种肌微管蛋白相关蛋白形成异聚体。该蛋白通过 PH-GRAM 结构域与磷酸肌醇脂质结合,并可在体外水解磷脂酰肌醇 (3) -磷酸和磷脂酰肌醇 (3,5) -二磷酸。已观察到编码的蛋白质在细胞中具有核周分布,可能是膜结合分布,但也发现它游离在细胞质中。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the myotubularin dual specificity protein Phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MTMR3 基因产物(3)

mRNA Protein Name
NM_021090.4 NP_066576.1 myotubularin-related protein 3 isoform c
NM_153050.3 NP_694690.1 myotubularin-related protein 3 isoform a
NM_153051.3 NP_694691.1 myotubularin-related protein 3 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
25659891 GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
IDA: 通过直接分析推断
11676921 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: 通过直接分析推断
10900271 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26787466 GOA
enables protein phosphatase binding IPI
IPI: 通过物理相互作用推断
16787938 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
10733931 GOA
enables protein tyrosine phosphatase activity IDA
IDA: 通过直接分析推断
10733931 GOA
enables protein tyrosine/serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
10733931 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to glucose starvation IMP
IMP: 通过突变表型推断
25578879 GOA
involved in midbody abscission IMP
IMP: 通过突变表型推断
25659891 GOA
involved in phosphatidylinositol 5-phosphate metabolic process IDA
IDA: 通过直接分析推断
11676921 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
10900271 GOA
involved in protein dephosphorylation IDA
IDA: 通过直接分析推断
10733931 GOA
involved in regulation of autophagosome assembly IMP
IMP: 通过突变表型推断
25578879 GOA
involved in regulation of phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
16787938 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10733931 GOA
located in membrane IDA
IDA: 通过直接分析推断
10733931 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

MTMR3 蛋白结构

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (126 - 526)

FYVE

FYVE: FYVE zinc finger (1115 - 1179)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1198 a.a.
蛋白主名 其他名称

myotubularin-related protein 3

FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase

MTMR3 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
Intra MTMR3 Q13615 RPTOR Homo sapiens Q8N122
Anti Tag CoIP
26787466
Intra MTMR3 Q13615 LONRF1 Homo sapiens Q17RB8
Validated Y2H
32296183
Intra MTMR3 Q13615 MTOR Homo sapiens P42345
Anti Tag CoIP
26787466
Intra MTMR3 Q13615 EXOSC5 Homo sapiens Q9NQT4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

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
Mus musculus MTMR3 MGD MGI:1921552
Canis familiaris MTMR3 VGNC VGNC:43484
Felis catus MTMR3 VGNC VGNC:68347
Rattus norvegicus MTMR3 RGD RGD:1310972
Bos taurus MTMR3 VGNC VGNC:31742
Macaca mulatta MTMR3 VGNC VGNC:75074