1. Gene
  2. MYO1F - myosin IF Gene

MYO1F - myosin IF Gene

中文名称:肌球蛋白 IF

种属: Homo sapiens

基因 ID: 4542 | 基因类型: protein coding

关于 MYO1F

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:8,520,778-8,577,442 (from NCBI)

This gene has 22 transcripts (splice variants), 206 orthologues and 43 paralogues. Biased expression in bone marrow (RPKM 41.2), spleen (RPKM 33.9) and 13 other tissues.

功能概要

肌球蛋白是分子马达,利用 ATP 水解产生的能量在肌动蛋白丝上产生力。由该基因编码的蛋白质是一种非常规肌球蛋白,可能参与膜封闭隔室的细胞内运动。有证据表明该基因的突变会导致听力损失。[RefSeq 提供,2017 年 1 月]

Myosins are molecular motors that use the energy from ATP hydrolysis to generate force on actin filaments. The protein encoded by this gene is an unconventional Myosin that may be involved in the intracellular movement of membrane-enclosed compartments. There is evidence to suggest that mutations in this gene can result in hearing loss. [provided by RefSeq, Jan 2017]

MYO1F 基因产物(2)

mRNA Protein Name
NM_001348355.2 NP_001335284.1 unconventional myosin-If isoform 2
NM_012335.4 NP_036467.2 unconventional myosin-If isoform 1
基因本体论
  • 分子功能
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
28514442 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

MYO1F 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (19 - 677)

Myosin_TH1

Myosin_TH1: Unconventional myosin tail, actin- and lipid-binding (716 - 916)

SH3_9

SH3_9: Variant SH3 domain (1048 - 1096)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1098 a.a.
蛋白主名 其他名称

unconventional myosin-If

myosin-ID

MYO1F 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 MYO1F O00160 OSTF1 Homo sapiens Q92882
Anti Tag CoIP
33961781
Intra MYO1F O00160 OSTF1 Homo sapiens Q92882
Anti Tag CoIP
28514442
Intra MYO1F O00160 SH3BP2 Homo sapiens P78314-3
Validated Y2H
32296183
Intra MYO1F O00160 ATOSB Homo sapiens Q7L5A3
Validated Y2H
32296183
Intra MYO1F O00160 SCNM1 Homo sapiens Q9BWG6
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
Developmental And Epileptic Encephalopathy 12

Epileptic Encephalopathy, Early Infantile, 12

DEE12

Eiee12

Early Infantile Epileptic Encephalopathy 12

Developmental And Epileptic Encephalopathy, 12

Encephalopathy, Epileptic, Early Infantile, Type 12

Floating-Harbor Syndrome

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

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 MYO1F MGD MGI:107711
Felis catus MYO1F VGNC VGNC:68394
Bos taurus MYO1F VGNC VGNC:31821
Rattus norvegicus MYO1F RGD RGD:1309750
Canis familiaris MYO1F VGNC VGNC:43565