1. Gene
  2. MYL6 - myosin light chain 6 Gene

MYL6 - myosin light chain 6 Gene

中文名称:肌球蛋白轻链 6

种属: Homo sapiens

同用名: LC17; ESMLC; LC17A; LC17B; MLC-3; MLC1SM; MLC3NM; MLC3SM; LC17-GI; LC17-NM

基因 ID: 4637 | 基因类型: protein coding

关于 MYL6

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:56,158,359-56,161,579 (from NCBI)

This gene has 21 transcripts (splice variants), 295 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 771.0), endometrium (RPKM 608.0) and 25 other tissues.

功能概要

肌球蛋白是一种六聚体 ATP 酶细胞运动蛋白。它由两条重链、两条不可磷酸化的碱金属轻链和两条可磷酸化的调节轻链组成。该基因编码在平滑肌和非肌肉组织中表达的肌球蛋白碱性轻链。已经描述了代表几个假基因的基因组序列,并且已经为该基因鉴定了编码不同同种型的两个转录物变体。[RefSeq 提供,2008 年 7 月]

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a Myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

MYL6 基因产物(2)

mRNA Protein Name
NM_021019.5 NP_066299.2 myosin light polypeptide 6 isoform 1
NM_079423.4 NP_524147.2 myosin light polypeptide 6 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables structural constituent of muscle IDA
IDA: 通过直接分析推断
16953301 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in brush border IDA
IDA: 通过直接分析推断
22114352 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

MYL6 蛋白结构

EF-hand_6

EF-hand_6: EF-hand domain (11 - 40)

  • 0
  • 100
  • 151 a.a.
蛋白主名 其他名称

myosin light polypeptide 6

17 kDa myosin light chain

MYL6 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
MYL6 P60660 NUDT21 Homo sapiens O43809
Y2H Pooling
16189514
种属内
MYL6 P60660 NUDT21 Homo sapiens O43809
Y2H Array
32296183
种属内
MYL6 P60660 NUDT21 Homo sapiens O43809
Y2H Prey Pooling
32296183
种属内
MYL6 P60660 AGR2 Homo sapiens O95994
Y2H Prey Pooling
32296183
种属内
MYL6 P60660 AGR2 Homo sapiens O95994
Y2H Array
32296183
种属内
MYL6 P60660 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
种属内
MYL6 P60660 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
种属内
MYL6 P60660 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
种属内
MYL6 P60660 ADAMTS12 Homo sapiens P58397
Y2H Array
25416956
种属内
MYL6 P60660 ADAMTS12 Homo sapiens P58397
Y2H Prey Pooling
25416956
种属内
MYL6 P60660 GAS2L3 Homo sapiens Q86XJ1
Y2H Prey Pooling
32296183
种属内
MYL6 P60660 GAS2L3 Homo sapiens Q86XJ1
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
Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

Adrenal Gland Pheochromocytoma

Pheochromocytoma

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Felis catus MYL6 VGNC VGNC:68386
Rattus norvegicus MYL6 RGD RGD:1589019
Mus musculus MYL6 MGD MGI:109318
Bos taurus MYL6 VGNC VGNC:50223