1. Gene
  2. MTMR14 - myotubularin related protein 14 Gene

MTMR14 - myotubularin related protein 14 Gene

中文名称:肌微管蛋白相关蛋白 14

种属: Homo sapiens

同用名: C3orf29

基因 ID: 64419 | 基因类型: protein coding

关于 MTMR14

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,649,505-9,702,393 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues.

功能概要

该基因编码肌微管蛋白相关蛋白。编码的蛋白质是一种磷酸肌醇磷酸酶,可特异性使磷脂酰肌醇 3,5-二磷酸和磷脂酰肌醇 3-磷酸去磷酸化。该基因的突变与常染色体显性中央核肌病相关。交替剪接导致多个转录本变体。在 18 号染色体上发现了该基因的假基因。[RefSeq 提供,2010 年 4 月]

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide Phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

MTMR14 基因产物(36)

mRNA Protein Name
NM_001077525.3 NP_001070993.1 myotubularin-related protein 14 isoform 2
NM_001077526.3 NP_001070994.1 myotubularin-related protein 14 isoform 1
NM_001400518.1 NP_001387447.1 myotubularin-related protein 14 isoform 4
NM_001400519.1 NP_001387448.1 myotubularin-related protein 14 isoform 5
NM_001400520.1 NP_001387449.1 myotubularin-related protein 14 isoform 6
NM_001400521.1 NP_001387450.1 myotubularin-related protein 14 isoform 7
NM_001400522.1 NP_001387451.1 myotubularin-related protein 14 isoform 8
NM_001400523.1 NP_001387452.1 myotubularin-related protein 14 isoform 9
NM_001400524.1 NP_001387453.1 myotubularin-related protein 14 isoform 10
NM_001400525.1 NP_001387454.1 myotubularin-related protein 14 isoform 11
NM_001400526.1 NP_001387455.1 myotubularin-related protein 14 isoform 12
NM_001400527.1 NP_001387456.1 myotubularin-related protein 14 isoform 13
NM_001400528.1 NP_001387457.1 myotubularin-related protein 14 isoform 14
NM_001400529.1 NP_001387458.1 myotubularin-related protein 14 isoform 15
NM_001400530.1 NP_001387459.1 myotubularin-related protein 14 isoform 16
NM_001400531.1 NP_001387460.1 myotubularin-related protein 14 isoform 17
NM_001400532.1 NP_001387461.1 myotubularin-related protein 14 isoform 18
NM_001400533.1 NP_001387462.1 myotubularin-related protein 14 isoform 19
NM_001400534.1 NP_001387463.1 myotubularin-related protein 14 isoform 19
NM_001400535.1 NP_001387464.1 myotubularin-related protein 14 isoform 19
NM_001400536.1 NP_001387465.1 myotubularin-related protein 14 isoform 20
NM_001400537.1 NP_001387466.1 myotubularin-related protein 14 isoform 21
NM_001400538.1 NP_001387467.1 myotubularin-related protein 14 isoform 22
NM_001400539.1 NP_001387468.1 myotubularin-related protein 14 isoform 23
NM_001400540.1 NP_001387469.1 myotubularin-related protein 14 isoform 23
NM_001400541.1 NP_001387470.1 myotubularin-related protein 14 isoform 23
NM_001400542.1 NP_001387471.1 myotubularin-related protein 14 isoform 23
NM_001400543.1 NP_001387472.1 myotubularin-related protein 14 isoform 23
NM_001400544.1 NP_001387473.1 myotubularin-related protein 14 isoform 24
NM_001400545.1 NP_001387474.1 myotubularin-related protein 14 isoform 25
NM_001400546.1 NP_001387475.1 myotubularin-related protein 14 isoform 25
NM_001400547.1 NP_001387476.1 myotubularin-related protein 14 isoform 26
NM_001400548.1 NP_001387477.1 myotubularin-related protein 14 isoform 26
NM_001400549.1 NP_001387478.1 myotubularin-related protein 14 isoform 27
NM_001400550.1 NP_001387479.1 myotubularin-related protein 14 isoform 28
NM_022485.5 NP_071930.2 myotubularin-related protein 14 isoform 3
基因本体论
  • 分子功能
  • 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
17008356 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: 通过直接分析推断
17008356 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
17008356 GOA
located in ruffle IDA
IDA: 通过直接分析推断
17008356 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
蛋白主名 其他名称

myotubularin-related protein 14

NS5ATP4ABP1

MTMR14 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
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q13625-3 25416956
种属内
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
种属内
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
种属内
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
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, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

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

Rhabdomyolysis-Myalgia Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 23

MRD23

Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency

Mental Retardation, Autosomal Dominant 23

Autosomal Dominant Non-Syndromic Intellectual Disability 23

Autosomal Dominant Intellectual Developmental Disorder 23

Autosomal Dominant Mental Retardation 23

Mental Retardation, Autosomal Dominant, Type 23

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy

Xmea

MEAX

Vacuolar Myopathy

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

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 MTMR14 VGNC VGNC:43482
Mus musculus MTMR14 MGD MGI:1916075
Felis catus MTMR14 VGNC VGNC:63655
Rattus norvegicus MTMR14 RGD RGD:1304842
Bos taurus MTMR14 VGNC VGNC:31740
Macaca mulatta MTMR14 VGNC VGNC:75024