TUBA4A - tubulin alpha 4a Gene

Also Known as ALS22; TUBA1; H2-ALPHA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7277

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16455083	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	24327345	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytoskeleton	IDA IDA: Inferred from direct assay	24327345	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUBA4A Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
448 a.a.

Protein Preferred Names	Protein Names
tubulin alpha-4A chain	tubulin H2-alpha

TUBA4A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	TUBA4A	P68366	TCP11L2	Homo sapiens	Q8N4U5	Anti Tag CoIP	33961781
Intra	TUBA4A	P68366	TCP11L2	Homo sapiens	Q8N4U5	Anti Tag CoIP	28514442
Intra	TUBA4A	P68366	TCP11L2	Homo sapiens	Q8N4U5	Validated Y2H	32296183
Intra	TUBA4A	P68366	POC5	Homo sapiens	Q8NA72	Anti Tag CoIP	30845169
Intra	TUBA4A	P68366	POC5	Homo sapiens	Q8NA72	Confocal	30845169
Intra	TUBA4A	P68366	CLIP1	Homo sapiens	P30622	Affinity Chrom	16455083
Intra	TUBA4A	P68366	CLIP1	Homo sapiens	P30622	Saturation Binding	16455083

Cross: Cross-species interaction Intra: Intraspecies interaction

TUBA4A Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P80538	alpha Tubulin Antibody (YA625)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat, Hamster
HY-P84435	alpha Tubulin Antibody (YA4132)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P84435A	alpha Tubulin Antibody (YA4132)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P86200	alpha Tubulin Antibody (YA5892)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS15248	TUBA4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TUBA4A	NCBI