1. Gene
  2. MYO18A - myosin XVIIIA Gene

MYO18A - myosin XVIIIA Gene

中文名称:肌球蛋白 XVIIIA

种属: Homo sapiens

同用名: MAJN; TIAF1; MYSPDZ; SPR210; SP-R210

基因 ID: 399687 | 基因类型: protein coding

关于 MYO18A

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,071,122-29,212,727 (from NCBI)

This gene has 25 transcripts (splice variants), 279 orthologues and 43 paralogues. Ubiquitous expression in skin (RPKM 21.0), bone marrow (RPKM 16.2) and 25 other tissues.

功能概要

该基因编码的蛋白质可以结合 GOLPH3,将高尔基体连接到细胞骨架并影响高尔基体膜运输。编码的蛋白质也是组装层状肌动球蛋白束的复合物的一部分,可能是细胞迁移所必需的。[RefSeq 提供,2016 年 10 月]

The protein encoded by this gene can bind GOLPH3, linking the Golgi to the Cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]

MYO18A 基因产物(6)

mRNA Protein Name
NM_001346765.2 NP_001333694.1 unconventional myosin-XVIIIa isoform c
NM_001346766.2 NP_001333695.1 unconventional myosin-XVIIIa isoform d
NM_001346767.2 NP_001333696.1 unconventional myosin-XVIIIa isoform e
NM_001346768.2 NP_001333697.1 unconventional myosin-XVIIIa isoform f
NM_078471.4 NP_510880.2 unconventional myosin-XVIIIa isoform a
NM_203318.2 NP_976063.1 unconventional myosin-XVIIIa isoform b
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 ADP binding IDA
IDA: 通过直接分析推断
23990465 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
23990465 GOA
NOT enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
23990465 GOA
enables actin filament binding IDA
IDA: 通过直接分析推断
23990465 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19837035 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
19837035 GOA
involved in Golgi ribbon formation IMP
IMP: 通过突变表型推断
19837035 GOA
involved in Golgi vesicle budding IMP
IMP: 通过突变表型推断
19837035 GOA
involved in actomyosin structure organization IMP
IMP: 通过突变表型推断
18854160 GOA
involved in asymmetric Golgi ribbon formation IMP
IMP: 通过突变表型推断
19837035 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
18854160 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
24485452 GOA
involved in positive regulation of opsonization IMP
IMP: 通过突变表型推断
21123169 GOA
involved in positive regulation of protein secretion IMP
IMP: 通过突变表型推断
23345592 GOA
involved in regulation of macrophage activation IMP
IMP: 通过突变表型推断
25965346 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actomyosin IDA
IDA: 通过直接分析推断
18854160 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
19837035 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

MYO18A 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (222 - 308)

Myosin_head

Myosin_head: Myosin head (motor domain) (408 - 1049)

Myosin_head

Myosin_head: Myosin head (motor domain) (1086 - 1173)

Myosin_tail_1

Myosin_tail_1: Myosin tail (1252 - 1837)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2054 a.a.
蛋白主名 其他名称

unconventional myosin-XVIIIa

12 kDa TGF-beta-1-induced antiapoptotic factor

MYO18A 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
MYO18A Q92614 GOLPH3 Homo sapiens Q9H4A6
Pull Down
24485452
种属内
MYO18A Q92614 GOLPH3 Homo sapiens Q9H4A6
IF
19837035
种属内
MYO18A Q92614 GOLPH3 Homo sapiens Q9H4A6
Anti Bait CoIP
19837035
种属内
MYO18A Q92614 GOLPH3 Homo sapiens Q9H4A6
Anti Bait CoIP
24485452
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
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia

Atypical Chronic Myeloid Leukaemia

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Acml

Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Atypical Cml

Subacute Myeloid Leukemia

Subacute Myelogenous Leukaemia

Subacute Myeloid Leukaemia

Subacute Myelosis

Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission

Subacute Monocytic Leukaemia Without Mention Of Remission

Subacute Monocytic Leukaemia

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder

Tic Disorders

Tic Disorder

Tic Disorder Nos

Tic Nos

Tic Spasm Nos

Alzheimer Disease 18

AD18

Alzheimer'S Disease 18

Alzheimer Disease 18, Late-Onset

Alzheimer Disease 18, Susceptibility To

Alzheimer'S Disease 18, Late Onset

Alzheimer Disease 18 Late-Onset

Alzheimer Disease, Susceptibility To, Type 18

Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

Developmental And Epileptic Encephalopathy 65

DEE65

Epileptic Encephalopathy, Early Infantile, 65

Eiee65

Developmental And Epileptic Encephalopathy, 65

Early Infantile Epileptic Encephalopathy 65

Encephalopathy, Epileptic, Early Infantile, Type 65

Developmental And Epileptic Encephalopathy 84

DEE84

Jamuar Syndrome

Eiee84

Developmental And Epileptic Encephalopathy, 84

Epileptic Encephalopathy, Early Ifantile, 84

Early Infantile Epileptic Encephalopathy 84

Epileptic Encephalopathy, Early Infantile, 84

Encephalopathy, Epileptic, Early Infantile, Type 84

Infancy Electroclinical Syndrome
Myeloproliferative Neoplasm

Myeloproliferative Disorder

Chronic Myeloproliferative Disease

Myeloproliferative Neoplasms

Chronic Myeloproliferative Disorder

Cmpd

Cmpd, U

Chronic Myeloproliferative Disorders

Mpd

Mpn

Myeloproliferative Disorders

Myeloproliferative Disease

Campomelic Dysplasia

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12

SCAR12

Spinocerebellar Ataxia With Mental Retardation And Epilepsy

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Bos taurus MYO18A VGNC VGNC:31813
Macaca mulatta MYO18A VGNC VGNC:75058
Felis catus MYO18A VGNC VGNC:63685
Mus musculus MYO18A MGD MGI:2667185
Rattus norvegicus MYO18A RGD RGD:1562698
Canis familiaris MYO18A VGNC VGNC:43557