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Aliases for TUBA1A Gene

Aliases for TUBA1A Gene

  • Tubulin Alpha 1a 2 3 5
  • Tubulin, Alpha, Brain-Specific 2 3
  • Tubulin Alpha-3 Chain 3 4
  • Tubulin B-Alpha-1 3 4
  • TUBA3 3 4
  • Tubulin Alpha-1A Chain 3
  • Alpha-Tubulin 3 4
  • Hum-A-Tub1 3
  • Hum-A-Tub2 3
  • B-ALPHA-1 3
  • 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 With Cerebellar Hypoplasia. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Development Slit-Robo signaling. GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBA1B.

UniProtKB/Swiss-Prot 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

Additional gene information for TUBA1A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA1A Gene

Genomics for TUBA1A Gene

Regulatory Elements for TUBA1A Gene

Enhancers for TUBA1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H049230 2.1 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -43.8 -43840 5.5 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 LMBR1L LOC105369760 KANSL2 TUBA1C KMT2D SMARCD1 TUBA1A CCNT1 PRKAG1 LOC390314
GH12H049364 1.4 FANTOM5 ENCODE 12.9 -178.3 -178309 5.9 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 DDX23 KMT2D CCNT1 SMARCD1 LOC390314 LMBR1L KANSL2 BCDIN3D TUBA1A KCNH3
GH12H049055 1.7 FANTOM5 ENCODE dbSUPER 10 +130.8 130822 6.7 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 MEF2D DDX23 LOC390314 LMBR1L CCNT1 KANSL2 KMT2D SENP1 LOC100422296 PRPF40B OR5BK1P
GH12H049823 1.7 FANTOM5 ENCODE dbSUPER 9.9 -637.2 -637195 6.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 SMARCD1 LMBR1L FAIM2 ASIC1 DDX23 BCDIN3D-AS1 CERS5 KMT2D TUBA1A ENSG00000272368
GH12H049222 1.3 Ensembl ENCODE dbSUPER 12.2 -33.9 -33910 2.1 HDAC1 CTCF ZMYM3 RAD21 ZNF121 POLR2A FOS ZSCAN29 RCOR1 EZH2 ENSG00000257298 ENSG00000257964 TUBA1C TUBA1A LOC100422296 PRPF40B LOC105369760 ENSG00000274017 ENSG00000258101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBA1A on UCSC Golden Path with GeneCards custom track

Promoters for TUBA1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051582 924 2801 PKNOX1 ARNT SIN3A GLI4 YY1 ETS1 GLIS2 KLF7 ATF7 RUNX3

Genomic Locations for TUBA1A Gene

Genomic Locations for TUBA1A Gene
chr12:49,184,795-49,189,324
(GRCh38/hg38)
Size:
4,530 bases
Orientation:
Minus strand
chr12:49,578,579-49,583,107
(GRCh37/hg19)

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:
    Q71U36-TBA1A_HUMAN
    Recommended name:
    Tubulin alpha-1A chain
    Protein Accession:
    Q71U36
    Secondary Accessions:
    • A8K0B8
    • G3V1U9
    • P04687
    • P05209

    Protein attributes for TUBA1A Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA1A Gene

Post-translational modifications for TUBA1A Gene

  • 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.
  • 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).
  • 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.
  • 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).
  • 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).
  • 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).
  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TUBA1A Gene

Domains & Families for TUBA1A Gene

Gene Families for TUBA1A Gene

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

Suggested Antigen Peptide Sequences for TUBA1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q71U36

UniProtKB/Swiss-Prot:

TBA1A_HUMAN :
  • Belongs to the tubulin family.
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 --
GO:0005515 protein binding IPI 12024216
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

Clone Products

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

COMPARTMENTS
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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endosome 5

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 IDA 21630459
GO:0005737 cytoplasm IEA --
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

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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process TAS,IEA 12090300
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0030705 cytoskeleton-dependent intracellular transport TAS 12090300
genes like me logo Genes that share ontologies with TUBA1A: view

Drugs & Compounds for TUBA1A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mebendazole Approved, Vet_approved Pharma binder, Target, inhibitor 29
Albendazole Approved, Vet_approved Pharma Target, inhibitor 91
Vinblastine Approved Pharma Target, adduct 429
Cabazitaxel Approved Pharma 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 116

(2) Additional Compounds for TUBA1A Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

(12) 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
Vinflunine Tartrate 1201898-17-0
genes like me logo Genes that share compounds with TUBA1A: view

Drug Products

Transcripts for TUBA1A Gene

Unigene Clusters for TUBA1A Gene

Tubulin, alpha 1a:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for TUBA1A Gene

GeneLoc Exon Structure for
TUBA1A
ECgene alternative splicing isoforms for
TUBA1A

Expression for TUBA1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TUBA1A Gene



Protein tissue co-expression partners for TUBA1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUBA1A Gene:

TUBA1A

SOURCE GeneReport for Unigene cluster for TUBA1A Gene:

Hs.654422

mRNA Expression by UniProt/SwissProt for TUBA1A Gene:

Q71U36-TBA1A_HUMAN
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(4.7)
  • Lung(4.6)
  • Muscle(4.4)
  • Kidney(3.9)
  • Pancreas(3.8)
  • Intestine(2.8)
  • Blood(2.4)
  • Gall bladder(2.2)
  • Bone marrow(2.1)
  • Adrenal gland(2)
  • Heart(2)
  • Lymph node(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • skull
Limb:
  • lower limb
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia TUBA1A 33 34
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia TUBA1A 33 34
  • 95.71 (n)
dog
(Canis familiaris)
Mammalia TUBA1A 33 34
  • 95.34 (n)
rat
(Rattus norvegicus)
Mammalia Tuba1a 33
  • 94.01 (n)
mouse
(Mus musculus)
Mammalia Tuba1a 33 16 34
  • 93.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBA1A 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBA3E 33
  • 80.66 (n)
-- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TUBA1A 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba1b 33
  • 87.8 (n)
zebrafish
(Danio rerio)
Actinopterygii tuba1a 34
  • 100 (a)
OneToMany
tuba1c 34
  • 100 (a)
OneToMany
tuba1l2 33
  • 85.66 (n)
worm
(Caenorhabditis elegans)
Secernentea Y19D2B.1 34
  • 82 (a)
OneToMany
tba-5 33
  • 69.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB3 36
barley
(Hordeum vulgare)
Liliopsida Hv.4030 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2516 33
Species where no ortholog for TUBA1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

ENSEMBL:
Gene Tree for TUBA1A (if available)
TreeFam:
Gene Tree for TUBA1A (if available)

Paralogs for TUBA1A Gene

Variants for TUBA1A Gene

Sequence variations from dbSNP and Humsavar for TUBA1A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs137853043 Pathogenic, Lissencephaly 3 (LIS3) [MIM:611603] 49,185,576(-) ATCCC(C/G/T)GCATC reference, missense
rs137853044 Pathogenic, Lissencephaly 3 (LIS3) [MIM:611603], Lissencephaly 3 (LIS3) [MIM:611603] 49,185,161(-) CAAAC(A/G/T)TGCCT reference, missense
rs137853045 Pathogenic, Lissencephaly 3 (LIS3) [MIM:611603] 49,185,804(-) ACTCC(A/C)TCCTC reference, missense
rs137853046 Pathogenic, Lissencephaly 3 (LIS3) [MIM:611603] 49,185,579(-) CCTAT(A/C)CCCGC reference, missense
rs137853047 Pathogenic, Lissencephaly 3 (LIS3) [MIM:611603] 49,185,110(-) GTTTT(C/T)AGAGG reference, missense

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)

Relevant External Links for TUBA1A Gene

Human Gene Mutation Database (HGMD)
TUBA1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA1A

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

Disorders for TUBA1A Gene

MalaCards: The human disease database

(16) MalaCards diseases for TUBA1A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 3
  • lis3
lissencephaly with cerebellar hypoplasia
  • lch
tubulinopathy-associated dysgyria
  • brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
lissencephaly
pachygyria
  • broad gyri of cerebrum
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBA1A_HUMAN
  • 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.

Relevant External Links for TUBA1A

Genetic Association Database (GAD)
TUBA1A
Human Genome Epidemiology (HuGE) Navigator
TUBA1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA1A
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 60
  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 60
  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 45 60
  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 45 60
  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 60

Products for TUBA1A Gene

Sources for TUBA1A Gene