1. Gene
  2. MTMR1 - myotubularin related protein 1 Gene

MTMR1 - myotubularin related protein 1 Gene

中文名称:肌微管蛋白相关蛋白 1

种属: Homo sapiens

基因 ID: 8776 | 基因类型: protein coding

关于 MTMR1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,692,962-150,765,108 (from NCBI)

This gene has 14 transcripts (splice variants), 242 orthologues and 13 paralogues. Ubiquitous expression in lymph node (RPKM 7.5), skin (RPKM 6.6) and 25 other tissues.

功能概要

该基因编码肌微管蛋白相关蛋白家族的成员。该家族的成员包含蛋白酪氨酸磷酸酶活性位点的共有序列。已经描述了选择性剪接变体,但尚未确定其生物学有效性。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of Protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MTMR1 基因产物(10)

mRNA Protein Name
NM_001306144.3 NP_001293073.1 myotubularin-related protein 1 isoform 1
NM_001306145.2 NP_001293074.1 myotubularin-related protein 1 isoform 3
NM_001353990.2 NP_001340919.1 myotubularin-related protein 1 isoform 4
NM_001353991.1 NP_001340920.1 myotubularin-related protein 1 isoform 5
NM_001353992.1 NP_001340921.1 myotubularin-related protein 1 isoform 5
NM_001353993.1 NP_001340922.1 myotubularin-related protein 1 isoform 5
NM_001353994.1 NP_001340923.1 myotubularin-related protein 1 isoform 5
NM_001353995.1 NP_001340924.1 myotubularin-related protein 1 isoform 5
NM_001353996.1 NP_001340925.1 myotubularin-related protein 1 isoform 5
NM_003828.5 NP_003819.1 myotubularin-related protein 1 isoform 2
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 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
IDA: 通过直接分析推断
27018598 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: 通过直接分析推断
11733541 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
27018598 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
11733541 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
16787938 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

MTMR1 蛋白结构

GRAM

GRAM: GRAM domain (109 - 160)

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (213 - 551)

  • 0
  • 200
  • 400
  • 600
  • 665 a.a.
蛋白主名 其他名称

myotubularin-related protein 1

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

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

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1

CMT4B1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Myopathy

Muscular Diseases

Myopathies

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

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
Canis familiaris MTMR1 VGNC VGNC:43478
Mus musculus MTMR1 MGD MGI:1858271
Macaca mulatta MTMR1 VGNC VGNC:75072
Felis catus MTMR1 VGNC VGNC:68344
Bos taurus MTMR1 VGNC VGNC:31736
Rattus norvegicus MTMR1 RGD RGD:1306569