TUBA1A - tubulin alpha 1a Gene

Also Known as LIS3; TUBA3; B-ALPHA-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7846

About TUBA1A

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,184,795-49,189,080 (from NCBI)

This gene has 10 transcripts (splice variants), 167 orthologues, 23 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 459.5), endometrium (RPKM 176.0) and 22 other tissues.

Summary

Microtubules of the eukaryotic Cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to 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, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

TUBA1A Products (3)

mRNA	Protein	Name
NM_001270399.2	NP_001257328.1	tubulin alpha-1A chain isoform 1
NM_001270400.2	NP_001257329.1	tubulin alpha-1A chain isoform 2
NM_006009.4	NP_006000.2	tubulin alpha-1A chain isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	29568061	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15657067	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axonemal microtubule	IDA IDA: Inferred from direct assay	36191189	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	15121898	GOA
located in microtubule	IDA IDA: Inferred from direct assay	21525035	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	24561039	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

TUBA1A Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
451 a.a.

Protein Preferred Names	Protein Names
tubulin alpha-1A chain	hum-a-tub1

TUBA1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TUBA1A	Q71U36	CYLD	Homo sapiens	Q9NQC7	Anti Tag CoIP	19893491
Intra	TUBA1A	Q71U36	CYLD	Homo sapiens	Q9NQC7	Fluorescence	19893491
Intra	TUBA1A	Q71U36	TUBB3	Homo sapiens	Q13509	Pull Down	27291054
Intra	TUBA1A	Q71U36	TCP11L2	Homo sapiens	Q8N4U5	BioID	29568061
Intra	TUBA1A	Q71U36	TXNDC9	Homo sapiens	O14530	BioID	29568061
Intra	TUBA1A	Q71U36	DNAJB11	Homo sapiens	Q9UBS4	Pull Down	29568061
Intra	TUBA1A	Q71U36	TXNDC9	Homo sapiens	O14530	Pull Down	27291054
Intra	TUBA1A	Q71U36	DNAJB11	Homo sapiens	Q9UBS4	Pull Down	27291054
Intra	TUBA1A	Q71U36	TCP11L2	Homo sapiens	Q8N4U5	Pull Down	27291054
Intra	TUBA1A	Q71U36	TCP11L2	Homo sapiens	Q8N4U5	Anti Tag CoIP	28514442
Intra	TUBA1A	Q71U36	TXNDC9	Homo sapiens	O14530	Pull Down	29568061
Intra	TUBA1A	Q71U36	TCP11L2	Homo sapiens	Q8N4U5	Anti Tag CoIP	33961781
Intra	TUBA1A	Q71U36	TCP11L2	Homo sapiens	Q8N4U5	Pull Down	29568061
Intra	TUBA1A	Q71U36	MAPT	Homo sapiens	P10636-8	BiFC	30274285

Cross: Cross-species interaction Intra: Intraspecies interaction

TUBA1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85318	PAX8 Antibody (YA5010)	WB, IHC-P, FC	Human

Related Diseases

Diseases	Alias
Lissencephaly 3	LIS3 Lissencephaly Due To Tuba1a Mutation Lissencephaly Type 3 Lissencephaly, Type 3
Tubulinopathy-Associated Dysgyria	Brain Stem Asymmetry-Superior Cerebellar And Basal Ganglia Dysplasia Syndrome
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Tubulinopathy	Tubulinopathies
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Continuous Spike-Wave During Slow Sleep Syndrome	Csws Cswss Syndrome Continuous Spikes And Waves During Sleep Continuous Spikes And Waves During Slow-Wave Sleep Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep Continuous Spike And Waves During Slow Sleep Continuous Spike And Waves During Slow-Wave Sleep Syndrome
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Dmda2 LGMDR3 Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2 Adhalinopathy, Primary Alpha-Sarcoglycanopathy Severe Childhood Autosomal Recessive Muscular Dystrophy Limb-Girdle Muscular Dystrophy, Type 2d Muscular Dystrophy Limb-Girdle With Alpha-Sarcoglycan Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 Alpha-Sarcoglycan-Related Lgmd R3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Lgmd Due To Alpha-Sarcoglycan Deficiency Lgmd Type 2d Limb-Girdle Muscular Dystrophy Due To Alpha-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2d Adhalinopathy Primary Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2 Limb-Girdle Muscular Dystrophy 2d Scarmd Dystrophy, Muscular, Limb-Girdle, Type 2d Alpha-Sarcoglycanopathies Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d	Alpha-Sarcoglycanopathy Dmda2 Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 Lgmd2d Muscular Dystrophy, Limb-Girdle, Type 2d Primary Adhalinopathy
Corpus Callosum, Agenesis Of	Corpus Callosum Agenesis Agenesis Of The Corpus Callosum Isolated Corpus Callosum Agenesis Acc Non Rare In Europe: Isolated Corpus Callosum Agenesis Congenital Malformation Of Corpus Callosum Deformity Of Corpus Callosum Absence Of Corpus Callosum Absent Corpus Callosum Acc - [Agenesis Of Corpus Callosum] Aplasia Of Corpus Callosum Congenital Absence Of Corpus Callosum Hypoplastic Corpus Callosum Hypoplasia Of Corpus Callosum
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	Da Silva Syndrome Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous Spike And Waves During Slow-Wave Sleep Syndrome FESD Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation Aphasia, Acquired, With Epilepsy Landau-Kleffner Syndrome Acquired Aphasia With Epilepsy Adresd Bects Benign Epilepsy Of Childhood With Centrotemporal Spikes Csws Cswss Lks Resdad Epilepsy, Focal, With Speech Disorder With/Without Mental Retardation Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant Benign Rolandic Epilepsy Aphasia
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Neuronal Migration Disorders	Abnormality Of Neuronal Migration Malformations Of Cortical Development, Group Ii Neuronal Dysmigration Syndromes
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
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
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Hydranencephaly	Hydroanencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Microlissencephaly
Polymicrogyria	Pmg
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
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Lissencephaly 10	LIS10
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Porencephaly
Lissencephaly 7 With Cerebellar Hypoplasia	LIS7 Lissencephaly 7, With Cerebellar Hypoplasia Lissencephaly, Type 7, With Cerebellar Hypoplasia
Leukodystrophy, Hypomyelinating, 6	Habc Hypomyelinating Leukodystrophy 6 HLD6 H-Abc Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum HLD Leukodystrophy, Hypomyelinating, Type 6
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Axonal Neuropathy
Parkinson Disease 7, Autosomal Recessive Early-Onset	Autosomal Recessive Early-Onset Parkinson Disease 7 PARK7 Parkinson'S Disease 7 Autosomal Recessive Early-Onset Parkinson'S Disease 7 Parkinson Disease 7 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Type 2 Autosomal Recessive Early-Onset Parkinson Disease Type 7 Parkinson Disease, Type 7
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Polymicrogyria, Bilateral Frontoparietal	Bilateral Frontoparietal Polymicrogyria BFPP Cerebellar Ataxia With Neuronal Migration Defect
Hypomelanosis Of Ito	Incontinentia Pigmenti Achromians Nevus Of Ito Ipa Ito Hypomelanosis Ito Pigmentation Disorders HMI Incontinentia Pigmenti, Type I, Formerly Ip1, Formerly Bloch-Siemans Syndrome Incontinentia Pigmenti Achromians Syndrome Ito'S Nevus Incontinentia Pigmenti Type 1 Nevi Of Ito Nevus Fuscocaeruleus Acromiodeltoideus Bloch Sulzberger Syndrome Skin Pigmentation Disorder
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
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Lissencephaly 1	LIS1 Classic Lissencephaly Ils Subcortical Laminar Heterotopia Lissencephaly Due To Lis1 Mutation Lissencephaly Sequence, Isolated Lissencephaly, Classic Pafah1b1-Related Lissencephaly Classical Lissencephaly Lissencephaly Type 1 Lissencephaly-1 Subcortical Band Heterotopia Double Cortex Lissencephaly Classic Lissencephaly Sequence Isolated Isolated Lissencephaly Sequence Type 1 Lissencephaly Lissencephaly Syndrome Type 1 SBH Sclh Lissencephaly, Type 1 Type I Lissencephaly
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
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15245	TUBA1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TUBA1A	MGD	MGI:98869
Rattus norvegicus	TUBA1A	RGD	RGD:619717
Others	TUBA1A	NCBI