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  2. MYO1C - myosin IC Gene

MYO1C - myosin IC Gene

中文名称:肌球蛋白集成电路

种属: Homo sapiens

同用名: NMI; MMIb; myr2; MyoIC; MMI-beta

基因 ID: 4641 | 基因类型: protein coding

关于 MYO1C

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,464,186-1,492,686 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues, 43 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 109.9), lung (RPKM 53.1) and 23 other tissues.

功能概要

该基因编码非常规肌球蛋白家族的成员,该家族是基于肌动蛋白的分子马达。该蛋白质存在于细胞质中,并且在细胞核中也发现了一种具有独特 N 末端的亚型。核同种型与 RNA 聚合酶 I 和 II 结合并在转录起始中发挥作用。该蛋白质的小鼠直系同源物还在细胞内囊泡转运至质膜中发挥作用。已发现该基因编码不同异构体的多个转录变体。相关基因肌球蛋白 IE 在文献中被称为肌球蛋白 IC,但它是 19 号染色体上的一个独特位点。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the unconventional Myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene Myosin IE has been referred to as Myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]

MYO1C 基因产物(4)

mRNA Protein Name
NM_001080779.2 NP_001074248.1 unconventional myosin-Ic isoform a
NM_001080950.2 NP_001074419.1 unconventional myosin-Ic isoform b
NM_001363855.1 NP_001350784.1 unconventional myosin-Ic isoform d
NM_033375.5 NP_203693.3 unconventional myosin-Ic isoform c
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 protein binding IPI
IPI: 通过物理相互作用推断
21402783 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
21402783 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
24056301 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
21402783 GOA
involved in positive regulation of transcription by RNA polymerase III IDA
IDA: 通过直接分析推断
16603771 GOA
involved in protein targeting to membrane IDA
IDA: 通过直接分析推断
21402783 GOA
involved in protein targeting to membrane IMP
IMP: 通过突变表型推断
23262137 GOA
involved in regulation of bicellular tight junction assembly IMP
IMP: 通过突变表型推断
21402783 GOA
involved in vascular endothelial growth factor signaling pathway IMP
IMP: 通过突变表型推断
23262137 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of B-WICH complex IDA
IDA: 通过直接分析推断
16603771 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
21402783 GOA
located in membrane IDA
IDA: 通过直接分析推断
21402783 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
23262137 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23262137 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

MYO1C 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (56 - 718)

IQ

IQ: IQ calmodulin-binding motif (737 - 754)

IQ

IQ: IQ calmodulin-binding motif (759 - 776)

Myosin_TH1

Myosin_TH1: Unconventional myosin tail, actin- and lipid-binding (873 - 1058)

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  • 1063 a.a.
蛋白主名 其他名称

unconventional myosin-Ic

myosin-I beta

关联疾病

疾病名称 别名
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Granulomatous Amebic Encephalitis

Granulomatous Amoebic Encephalitis

Acanthamoeba Encephalitis

Acanthamoeba Granulomatous Encephalitis

Granulomatous Amebic Encephalitis Due To Acanthamoeba

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome

17p13.3 Duplication Syndrome

17p13.3 Microduplication Syndrome

Trisomy 17p13.3

Chromosome 17p13.3 Centromeric Duplication Syndrome

Dup(17)(P13.3)

Primary Amebic Meningoencephalitis

Pam

Naegleria Fowleri Infection

Meningoencephalitis Caused By Naegleria Fowleri

Primary Amoebic Meningoencephalitis

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

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome

Mds

MDLS

Miller Dieker Syndrome

Classical Lissencephaly Syndrome

Lissencephaly Due To 17p13.3 Deletion

Monosomy 17p13.3

Telomeric Deletion 17p

Classical Lissencephaly

Amebiasis

Amoebiasis

Entamoebiasis

Chronic Intestinal Amebiasis

Amoebiasis, Unspecified

Amebic Colitis

Amoebic Enteritis

Infection Due To Entamoeba Histolytica

Amoebic Infection

Disease Due To Endamoebidae

Amoebiasis Nos

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

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 MYO1C VGNC VGNC:68390
Macaca mulatta MYO1C VGNC VGNC:75112
Bos taurus MYO1C VGNC VGNC:31818
Mus musculus MYO1C MGD MGI:106612
Rattus norvegicus MYO1C RGD RGD:620443
Canis familiaris MYO1C VGNC VGNC:43562