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 tub... See more...

Aliases for TUBA1A Gene

Aliases for TUBA1A Gene

  • Tubulin Alpha 1a 2 3 5
  • TUBA3 2 3 4
  • Tubulin, Alpha, Brain-Specific 2 3
  • Tubulin Alpha-1A Chain 3 4
  • Tubulin Alpha-3 Chain 3 4
  • Tubulin B-Alpha-1 3 4
  • B-ALPHA-1 2 3
  • Alpha-Tubulin 3 4
  • Hum-A-Tub1 3
  • Hum-A-Tub2 3
  • FLJ25113 2
  • TUBA1A 5
  • LIS3 3

External Ids for TUBA1A Gene

Previous GeneCards Identifiers for TUBA1A Gene

  • GC12M047865
  • GC12M049578
  • GC12M046609

Summaries for TUBA1A Gene

Entrez Gene Summary for TUBA1A Gene

  • 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]

GeneCards Summary for TUBA1A Gene

TUBA1A (Tubulin Alpha 1a) is a Protein Coding gene. Diseases associated with TUBA1A include Lissencephaly 3 and Lissencephaly. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBA1B.

UniProtKB/Swiss-Prot Summary for TUBA1A Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Tocris Summary for TUBA1A Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBA1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBA1A Gene

Genomics for TUBA1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBA1A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J049186 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 609.3 +1.5 1502 5.6 RNF2 SP1 CREB1 ZNF629 ZNF512 RFX1 RFX5 ZNF692 POLR2A ZHX2 TUBA1A TUBA1C lnc-PRPH-3 TUBA1B ENSG00000258017 CCNT1 ENSG00000271547 DDX23 KANSL2 KMT2D
GH12J049190 Promoter/Enhancer 0.6 Ensembl dbSUPER 600.7 -1.6 -1577 0.2 ZNF189 TUBA1A lnc-PRPH-3 RF00017-1136 TUBA1C PRPH
GH12J049364 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.9 -178.3 -178308 5.9 SP1 HNRNPL CTCF PRDM10 REST ZNF629 IKZF1 ZNF692 POLR2A ZNF7 SPATS2 TUBA1A KCNH3 MCRS1 DNAJC22 PRPF40B piR-32285-017
GH12J049230 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 14.1 -43.8 -43840 5.5 CEBPG GATAD2A CTCF ZBTB33 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 ZNF174 LMBR1L ENSG00000258017 ENSG00000271547 TUBA1C DDX23 SMARCD1 TUBA1A TROAP KANSL2 RHEBL1
GH12J049823 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 -637.2 -637194 6.3 TEAD4 PRDM10 REST ZNF629 LEF1 IKZF1 RFX5 ZNF692 POLR2A PRDM1 BCDIN3D-AS1 SMARCD1 LMBR1L FAIM2 ASIC1 DDX23 CERS5 KMT2D TUBA1A ENSG00000272368
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBA1A

Top Transcription factor binding sites by QIAGEN in the TUBA1A gene promoter:
  • CP2
  • GATA-1
  • HNF-1
  • HNF-1A
  • MRF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA
  • Roaz
  • SEF-1 (1)

Genomic Locations for TUBA1A Gene

Genomic Locations for TUBA1A Gene
4,530 bases
Minus strand
4,529 bases
Minus strand

Genomic View for TUBA1A Gene

Genes around TUBA1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA1A Gene

Proteins for TUBA1A Gene

  • Protein details for TUBA1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tubulin alpha-1A chain
    Protein Accession:
    Secondary Accessions:
    • A8K0B8
    • G3V1U9
    • P04687
    • P05209

    Protein attributes for TUBA1A Gene

    451 amino acids
    Molecular mass:
    50136 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with SETD2; the interaction is independent on alpha-tubulin acetylation on Lys-40.

    Three dimensional structures from OCA and Proteopedia for TUBA1A Gene

    Alternative splice isoforms for TUBA1A Gene


neXtProt entry for TUBA1A Gene

Post-translational modifications for TUBA1A Gene

  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
  • Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
  • Nitration of Tyr-451 is irreversible and interferes with normal dynein intracellular distribution.
  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (VASH1 or VASH2) and tubulin tyrosine ligase (TTL), respectively.
  • [Tubulin alpha-1A chain]: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1. Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003, PubMed:26968983). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (PubMed:26968983).
  • [Detyrosinated tubulin alpha-1A chain]: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TUBA1A

No data available for DME Specific Peptides for TUBA1A Gene

Domains & Families for TUBA1A Gene

Gene Families for TUBA1A Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for TUBA1A Gene

Suggested Antigen Peptide Sequences for TUBA1A Gene

GenScript: Design optimal peptide antigens:
  • Tubulin alpha-3 chain (TBA1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tubulin family.
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA1A: view

Function for TUBA1A Gene

Molecular function for TUBA1A Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Phenotypes From GWAS Catalog for TUBA1A Gene

Gene Ontology (GO) - Molecular Function for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005198 structural molecule activity TAS 12090300
GO:0005200 structural constituent of cytoskeleton IEA,IBA 21873635
GO:0005515 protein binding IPI 15657067
genes like me logo Genes that share ontologies with TUBA1A: view
genes like me logo Genes that share phenotypes with TUBA1A: view

Human Phenotype Ontology for TUBA1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA1A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBA1A Gene

Localization for TUBA1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA1A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBA1A gene
Compartment Confidence
cytoskeleton 5
endosome 5
cytosol 5
extracellular 4
nucleus 4
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,TAS 12090300
genes like me logo Genes that share ontologies with TUBA1A: view

Pathways & Interactions for TUBA1A Gene

genes like me logo Genes that share pathways with TUBA1A: view

Pathways by source for TUBA1A Gene

10 GeneGo (Thomson Reuters) pathways for TUBA1A Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
1 Cell Signaling Technology pathway for TUBA1A Gene

SIGNOR curated interactions for TUBA1A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA,TAS 12090300
genes like me logo Genes that share ontologies with TUBA1A: view

Drugs & Compounds for TUBA1A Gene

(24) Drugs for TUBA1A Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mebendazole Approved, Vet_approved Pharma Target, inhibitor, binder 52
Albendazole Approved, Vet_approved Pharma Target, inhibitor 112
Vinblastine Approved Pharma Target, adduct 189
Colchiceine Approved, Experimental Pharma Target, binder 0
Cabazitaxel Approved Pharma 0

(2) Additional Compounds for TUBA1A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
Agonist 33069-62-4

(5) Tocris Compounds for TUBA1A Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9

(11) ApexBio Compounds for TUBA1A Gene

Compound Action Cas Number
Cabazitaxel 183133-96-2
CK-636 Arp2/3 complex inhibitor 442632-72-6
Colchicine Tubulin Inhibitor 64-86-8
CYT997 (Lexibulin) 917111-44-5
Docetaxel Microtubulin disassembly inhibitor 114977-28-5
Epothilone A Microtubule stabilizing macrolide 152044-53-6
Fosbretabulin (Combretastatin A4 Phosphate (CA4P)) Disodium 168555-66-6
Griseofulvin 126-07-8
INH6 1001753-24-7
MPC 6827 hydrochloride Potent microtubule inhibitor 917369-31-4
Plinabulin (NPI-2358) Tumor cell lines inhibitor 714272-27-2
genes like me logo Genes that share compounds with TUBA1A: view

Drug Products

Transcripts for TUBA1A Gene

mRNA/cDNA for TUBA1A Gene

13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA1A

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA1A Gene

No ASD Table

Relevant External Links for TUBA1A Gene

GeneLoc Exon Structure for

Expression for TUBA1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA1A Gene

mRNA differential expression in normal tissues according to GTEx for TUBA1A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.0).

Protein differential expression in normal tissues from HIPED for TUBA1A Gene

This gene is overexpressed in Brain (14.9), Adipocyte (12.9), and Breast (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBA1A Gene

Protein tissue co-expression partners for TUBA1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBA1A

SOURCE GeneReport for Unigene cluster for TUBA1A Gene:


mRNA Expression by UniProt/SwissProt for TUBA1A Gene:

Tissue specificity: Expressed at a high level in fetal brain.

Evidence on tissue expression from TISSUES for TUBA1A Gene

  • Nervous system(5)
  • Eye(4.9)
  • Skin(4.8)
  • Lung(4.7)
  • Muscle(4.6)
  • Kidney(4.3)
  • Pancreas(4)
  • Intestine(3.3)
  • Blood(3.2)
  • Heart(2.9)
  • Liver(2.7)
  • Bone marrow(2.5)
  • Adrenal gland(2.5)
  • Lymph node(2.4)
  • Thyroid gland(2.3)
  • Stomach(2.2)
  • Gall bladder(2.2)
  • Spleen(2.2)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA1A Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • skull
  • lower limb
  • upper limb
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TUBA1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TUBA1A Gene

Orthologs for TUBA1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA1A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TUBA1A 30 31
  • 99.19 (n)
(Bos Taurus)
Mammalia TUBA1A 30 31
  • 95.71 (n)
(Canis familiaris)
Mammalia TUBA1A 30 31
  • 95.34 (n)
(Rattus norvegicus)
Mammalia Tuba1a 30
  • 94.01 (n)
(Mus musculus)
Mammalia Tuba1a 30 17 31
  • 93.64 (n)
(Ornithorhynchus anatinus)
Mammalia TUBA1A 31
  • 68 (a)
(Gallus gallus)
Aves TUBA3E 30
  • 80.66 (n)
-- 31
  • 57 (a)
(Anolis carolinensis)
Reptilia TUBA1A 31
  • 100 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tuba1b 30
  • 87.8 (n)
(Danio rerio)
Actinopterygii tuba1c 31
  • 100 (a)
tuba1a 31
  • 100 (a)
tuba1l2 30
  • 85.66 (n)
(Caenorhabditis elegans)
Secernentea Y19D2B.1 31
  • 82 (a)
tba-5 30
  • 69.48 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB3 33
(Hordeum vulgare)
Liliopsida Hv.4030 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
-- 31
  • 49 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2516 30
Species where no ortholog for TUBA1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TUBA1A Gene

Gene Tree for TUBA1A (if available)
Gene Tree for TUBA1A (if available)
Evolutionary constrained regions (ECRs) for TUBA1A: view image

Paralogs for TUBA1A Gene

(29) SIMAP similar genes for TUBA1A Gene using alignment to 5 proteins:

  • F8W0F6_HUMAN

Pseudogenes.org Pseudogenes for TUBA1A Gene

genes like me logo Genes that share paralogs with TUBA1A: view

Variants for TUBA1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBA1A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
689469 Likely Pathogenic: Lissencephaly 3 49,186,620(-) T/C MISSENSE_VARIANT
715826 Likely Benign: not provided 49,185,517(-) A/G SYNONYMOUS_VARIANT
737186 Likely Benign: not provided 49,186,355(-) A/G SYNONYMOUS_VARIANT
744673 Likely Benign: not provided 49,188,968(-) G/T FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
745671 Likely Benign: not provided 49,186,813(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for TUBA1A Gene

Structural Variations from Database of Genomic Variants (DGV) for TUBA1A Gene

Variant ID Type Subtype PubMed ID
nsv976610 CNV duplication 23825009

Variation tolerance for TUBA1A Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBA1A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA1A Gene

Disorders for TUBA1A Gene

MalaCards: The human disease database

(34) MalaCards diseases for TUBA1A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 3
  • lis3
  • tubulin-related cortical dysgenesis
tubulinopathy-associated dysgyria
  • brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
autosomal recessive limb-girdle muscular dystrophy type 2d
  • muscular dystrophy, limb-girdle, type 2d
- elite association - COSMIC cancer census association via MalaCards


  • Lissencephaly 3 (LIS3) [MIM:611603]: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. {ECO:0000269 PubMed:17584854, ECO:0000269 PubMed:25818041}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBA1A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TUBA1A: view

No data available for Genatlas for TUBA1A Gene

Publications for TUBA1A Gene

  1. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. (PMID: 11504633) Crabtree DV … Adler AJ (Bioorganic & medicinal chemistry 2001) 2 3 4
  2. Structural features and restricted expression of a human alpha-tubulin gene. (PMID: 3839072) Hall JL … Cowan NJ (Nucleic acids research 1985) 2 3 4
  3. Association between genes of Disrupted in schizophrenia 1 (DISC1) interactors and schizophrenia supports the role of the DISC1 pathway in the etiology of major mental illnesses. (PMID: 19251251) Tomppo L … Peltonen L (Biological psychiatry 2009) 3 41
  4. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. (PMID: 18954413) Morris-Rosendahl DJ … Uyanik G (Clinical genetics 2008) 3 41
  5. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). (PMID: 17584854) Poirier K … Chelly J (Human mutation 2007) 3 4

Products for TUBA1A Gene

  • Signalway Proteins for TUBA1A

Sources for TUBA1A Gene