1. Gene
  2. MYO1B - myosin IB Gene

MYO1B - myosin IB Gene

中文名称:肌球蛋白 IB

种属: Homo sapiens

同用名: MMIa; myr1; MYH-1c; MMI-alpha

基因 ID: 4430 | 基因类型: protein coding

关于 MYO1B

Cytogenetic location: 2q32.3 Genomic coordinates (GRCh38): 2:191,245,404-191,425,386 (from NCBI)

This gene has 15 transcripts (splice variants), 211 orthologues and 43 paralogues. Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues.

功能概要

启用 ATP 绑定活动;肌动蛋白丝结合活性;和微丝运动活动。参与肌动蛋白丝组织和后高尔基体囊泡介导的运输。位于多种细胞成分中,包括肌动蛋白丝;核内体;和细胞质的核周区。与跨高尔基网络膜共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and perinuclear region of cytoplasm. Colocalizes with trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]

MYO1B 基因产物(5)

mRNA Protein Name
NM_001130158.3 NP_001123630.1 unconventional myosin-Ib isoform 1
NM_001161819.3 NP_001155291.1 unconventional myosin-Ib isoform 1
NM_001330237.2 NP_001317166.1 unconventional myosin-Ib isoform 4
NM_001330238.2 NP_001317167.1 unconventional myosin-Ib isoform 5
NM_012223.5 NP_036355.2 unconventional myosin-Ib 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 ATP binding IMP
IMP: 通过突变表型推断
21666684 GOA
enables actin filament binding IMP
IMP: 通过突变表型推断
21666684 GOA
enables microfilament motor activity IMP
IMP: 通过突变表型推断
21666684 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IMP
IMP: 通过突变表型推断
21666684 GOA
involved in post-Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
21666684 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin filament IDA
IDA: 通过直接分析推断
16219689 GOA
located in early endosome IDA
IDA: 通过直接分析推断
16219689 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
16219689 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21666684 GOA
colocalizes with trans-Golgi network membrane IDA
IDA: 通过直接分析推断
21666684 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

MYO1B 蛋白结构

Myosin_head

Myosin_head: Myosin head (motor domain) (18 - 688)

IQ

IQ: IQ calmodulin-binding motif (707 - 724)

IQ

IQ: IQ calmodulin-binding motif (752 - 770)

Myosin_TH1

Myosin_TH1: Unconventional myosin tail, actin- and lipid-binding (941 - 1131)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1136 a.a.
蛋白主名 其他名称

unconventional myosin-Ib

MYO1B variant protein

关联疾病

疾病名称 别名
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Deafness, Autosomal Dominant 48

DFNA48

Autosomal Dominant Nonsyndromic Deafness 48

Autosomal Dominant Deafness 48

Deafness, Autosomal Dominant, 48

Deafness Autosomal Dominant Due To Mutation In Myo1a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48

Deafness, Autosomal Dominant, Type 48

Scrotum Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Scrotum

Scrotal Squamous Cell Carcinoma

Granulomatous Amebic Encephalitis

Granulomatous Amoebic Encephalitis

Acanthamoeba Encephalitis

Acanthamoeba Granulomatous Encephalitis

Granulomatous Amebic Encephalitis Due To Acanthamoeba

Primary Amebic Meningoencephalitis

Pam

Naegleria Fowleri Infection

Meningoencephalitis Caused By Naegleria Fowleri

Primary Amoebic Meningoencephalitis

Scrotal Carcinoma

Carcinoma Of Scrotum

Malignant Neoplasm Of Scrotum

Neoplasm Of Scrotum

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

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 MYO1B MGD MGI:107752
Bos taurus MYO1B VGNC VGNC:31817
Canis familiaris MYO1B VGNC VGNC:43561
Macaca mulatta MYO1B VGNC VGNC:75111
Rattus norvegicus MYO1B RGD RGD:70994
Felis catus MYO1B VGNC VGNC:68389