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  2. TUBA4A - tubulin alpha 4a Gene

TUBA4A - tubulin alpha 4a Gene

中文名称:微管蛋白α4a

种属: Homo sapiens

同用名: ALS22; TUBA1; H2-ALPHA

基因 ID: 7277 | 基因类型: protein coding

关于 TUBA4A

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,249,710-219,254,740 (from NCBI)

This gene has 10 transcripts (splice variants), 441 orthologues, 23 paralogues and is associated with 1 phenotype. Broad expression in skin (RPKM 72.2), brain (RPKM 48.6) and 20 other tissues.

功能概要

真核细胞骨架的微管执行重要且多样的功能,由 alpha 和 beta 微管蛋白的异二聚体组成。编码这些微管成分的基因是微管蛋白超家族的一部分,该超家族由六个不同的家族组成。来自 alpha、beta 和 gamma 微管蛋白家族的基因存在于所有真核生物中。 α 和β 微管蛋白代表微管的主要成分,而γ 微管蛋白在微管组装的成核过程中起着关键作用。存在多个 α 和 β 微管蛋白基因,它们在物种之间高度保守。该基因编码的α微管蛋白是大鼠睾丸特异性α微管蛋白的高度保守同系物。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 6 月]

Microtubules of the eukaryotic Cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

TUBA4A 基因产物(2)

mRNA Protein Name
NM_001278552.2 NP_001265481.1 tubulin alpha-4A chain isoform 2
NM_006000.3 NP_005991.1 tubulin alpha-4A chain isoform 1
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
16455083 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
24327345 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoskeleton IDA
IDA: 通过直接分析推断
24327345 GOA
located in microtubule IDA
IDA: 通过直接分析推断
21525035 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

TUBA4A 蛋白结构

Tubulin

Tubulin: Tubulin/FtsZ family, GTPase domain (3 - 225)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (263 - 392)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 448 a.a.
蛋白主名 其他名称

tubulin alpha-4A chain

tubulin H2-alpha

TUBA4A 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
TUBA4A P68366 TCP11L2 Homo sapiens Q8N4U5
Anti Tag CoIP
33961781
种属内
TUBA4A P68366 TCP11L2 Homo sapiens Q8N4U5
Anti Tag CoIP
28514442
种属内
TUBA4A P68366 TCP11L2 Homo sapiens Q8N4U5
Validated Y2H
32296183
种属内
TUBA4A P68366 POC5 Homo sapiens Q8NA72
Anti Tag CoIP
30845169
种属内
TUBA4A P68366 POC5 Homo sapiens Q8NA72
Confocal
30845169
种属内
TUBA4A P68366 CLIP1 Homo sapiens P30622
Affinity Chrom
16455083
种属内
TUBA4A P68366 CLIP1 Homo sapiens P30622
Saturation Binding
16455083
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
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia

ALS22

Amyotrophic Lateral Sclerosis 22, With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 22 Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 22

Als 22

Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 22

Joubert Syndrome 8

JBTS8

Joubert Syndrome, Type 8

Spondylometaphyseal Dysplasia, Axial

Axial Spondylometaphyseal Dysplasia

SMDAX

Axial Smd

Smd Axial

Smd, Axial

Spondylometaphyseal Dysplasia Axial Type

Dysplasia, Spondylometaphyseal, Axial

Tinea Favosa

Favus

Myopathy, Myofibrillar, 6

Myofibrillar Myopathy 6

MFM6

Myopathy, Myofibrillar, Bag3-Related

Bag3-Related Myofibrillar Myopathy

Muscular Dystrophy, Selcen Type

Mfm Bag3-Related

Muscular Dystrophy Selcen Type

Myopathy Myofibrillar Bag3-Related

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy, Congenital, Due To Itga7 Deficiency

Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy With Itga7 Deficiency

Congenital Myopathy Due To Integrin Alpha-7 Deficiency

Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency

MDCI

Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency

Neuronopathy, Distal Hereditary Motor, Type Iib

HMN2B

Hmn Iib

Neuropathy, Distal Hereditary Motor, Type Iib

Dhmn2b

Distal Hereditary Motor Neuropathy Type 2b

Distal Hereditary Motor Neuropathy Type Iib

Neuronopathy, Distal Hereditary Motor, Type 2b

Neuronopathy, Distal Hereditary Motor, 2b

Dhmn Ii

Neuropathy, Motor, Distal, Hereditary, Type 2b

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

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

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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 TUBA4A MGD MGI:1095410
Macaca mulatta TUBA4A VGNC VGNC:78673
Rattus norvegicus TUBA4A RGD RGD:1359623
Bos taurus TUBA4A VGNC VGNC:49986
Canis familiaris TUBA4A VGNC VGNC:55011
Felis catus TUBA4A VGNC VGNC:80395