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TUBA4A Gene(Protein Coding)

Tubulin Alpha 4a

GCID:
GC02M219249
GIFtS:
68
Genes Participants
UDN Logo

Aliases for TUBA4A Gene

Aliases for TUBA4A Gene

  • Tubulin Alpha 4a 2 3 5
  • Tubulin, Alpha 1 (Testis Specific) 2 3
  • Tubulin Alpha-1 Chain 3 4
  • Tubulin H2-Alpha 3 4
  • TUBA1 3 4
  • Testis-Specific Alpha-Tubulin 4
  • Tubulin, Alpha 4a 3
  • Tubulin, Alpha 1 2
  • Alpha-Tubulin 1 4
  • H2-ALPHA 3
  • ALS22 3

External Ids for TUBA4A Gene

Previous HGNC Symbols for TUBA4A Gene

  • TUBA1

Previous GeneCards Identifiers for TUBA4A Gene

  • GC02M219823
  • GC02M220114
  • GC02M211967

Summaries for TUBA4A Gene

Entrez Gene Summary for TUBA4A Gene

  • 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]

GeneCards Summary for TUBA4A Gene

TUBA4A (Tubulin Alpha 4a) is a Protein Coding gene. Diseases associated with TUBA4A include Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemoral Dementia and Mixed Glioma. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA4B.

UniProtKB/Swiss-Prot for TUBA4A 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 TUBA4A 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 TUBA4A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA4A Gene

Genomics for TUBA4A Gene

Products:

  1. Regulatory Element

Regulatory Elements for TUBA4A Gene

Enhancers for TUBA4A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TUBA4A on UCSC Golden Path with GeneCards custom track

Promoters for TUBA4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBA4A on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TUBA4A gene promoter:

Genomic Location for TUBA4A Gene

Chromosome:
2
Start:
219,249,711 bp from pter
End:
219,278,170 bp from pter
Size:
28,460 bases
Orientation:
Minus strand

Genomic View for TUBA4A Gene

Genes around TUBA4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA4A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TUBA4A Gene

Proteins for TUBA4A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TUBA4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68366-TBA4A_HUMAN
    Recommended name:
    Tubulin alpha-4A chain
    Protein Accession:
    P68366
    Secondary Accessions:
    • A8MUB1
    • B3KNQ6
    • P05215

    Protein attributes for TUBA4A Gene

    Size:
    448 amino acids
    Molecular mass:
    49924 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.
    Miscellaneous:
    • This tubulin does not have a C-terminal tyrosine.

    Alternative splice isoforms for TUBA4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA4A Gene

Proteomics data for TUBA4A Gene at MOPED

Protein Expression for TUBA4A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TUBA4A Gene

  • Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle progression or cell differentiation to intracellular trafficking and signaling (By similarity).
  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also 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) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable).
  • Ubiquitination at Lys 326
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBA4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA4A Gene

Domains & Families for TUBA4A Gene

Gene Families for TUBA4A Gene

HGNC:

Protein Domains for TUBA4A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TUBA4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P68366

UniProtKB/Swiss-Prot:

TBA4A_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA4A: view

Function for TUBA4A Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line
  7. Flow Cytometry

Molecular function for TUBA4A 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.

Gene Ontology (GO) - Molecular Function for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 16455083
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA4A: view

Phenotypes for TUBA4A Gene

GenomeRNAi human phenotypes for TUBA4A:
genes like me logo Genes that share phenotypes with TUBA4A: view

Human Phenotype Ontology for TUBA4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA4A Gene

Localization for TUBA4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA4A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBA4A Gene COMPARTMENTS Subcellular localization image for TUBA4A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5

Gene Ontology (GO) - Cellular Components for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with TUBA4A: view

Pathways & Interactions for TUBA4A Gene

genes like me logo Genes that share pathways with TUBA4A: view

SIGNOR curated interactions for TUBA4A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0002576 platelet degranulation TAS --
GO:0006996 organelle organization TAS --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBA4A: view

Drugs & Compounds for TUBA4A Gene

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  1. Drug

(22) Drugs for TUBA4A Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cabazitaxel Approved Pharma inhibitor, Target, binder 0
Vincristine Approved, Investigational Pharma binder, Target, inhibitor Microtubule disrupter,antitumor agent 870
Podofilox Approved Pharma Target, inhibitor 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 105
Griseofulvin Approved Pharma 6

(2) Additional Compounds for TUBA4A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBA4A Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2

(11) ApexBio Compounds for TUBA4A 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
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 TUBA4A: view

Transcripts for TUBA4A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
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mRNA/cDNA for TUBA4A Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(486) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TUBA4A Gene

Tubulin, alpha 4a:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA4A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b
SP1: -
SP2:
SP3:

Relevant External Links for TUBA4A Gene

GeneLoc Exon Structure for
TUBA4A
ECgene alternative splicing isoforms for
TUBA4A

Expression for TUBA4A Gene

Products:

  1. Primer

mRNA expression in normal human tissues for TUBA4A Gene

mRNA expression in normal human tissues for TUBA4A Gene
mRNA expression by BioGPS for TUBA4A GenemRNA expression by GTEx for TUBA4A Gene

mRNA differential expression in normal tissues according to GTEx for TUBA4A Gene

This gene is overexpressed in Whole Blood (x9.1) and Muscle - Skeletal (x6.3).

Protein differential expression in normal tissues from HIPED for TUBA4A Gene

This gene is overexpressed in Platelet (14.5), Brain (11.8), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBA4A Gene



SOURCE GeneReport for Unigene cluster for TUBA4A Gene Hs.75318

genes like me logo Genes that share expression patterns with TUBA4A: view

Protein tissue co-expression partners for TUBA4A Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TUBA4A Gene

Orthologs for TUBA4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia TUBA4A 35
  • 94.35 (n)
  • 100 (a)
TUBA4A 36
  • 100 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia TUBA4A 35
  • 93.01 (n)
  • 100 (a)
TUBA4A 36
  • 100 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tuba4a 35
  • 92.56 (n)
  • 100 (a)
Tuba4a 16
Tuba4a 36
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TUBA4A 35
  • 99.85 (n)
  • 100 (a)
TUBA4A 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Tuba4a 35
  • 92.19 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
 Mammalia TUBA4A 36
  • 100 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC100857214 35
  • 86.53 (n)
  • 96.43 (a)
-- 36
  • 92 (a)
 OneToMany
-- 36
  • 95 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 97 (a)
 OneToMany
-- 36
  • 97 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia tuba4b 35
  • 84.9 (n)
  • 98.21 (a)
zebrafish
(Danio rerio)
 Actinopterygii tuba8l3 35
  • 81.55 (n)
  • 94.87 (a)
tuba8l2 36
  • 94 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta alphaTub85E 36
  • 94 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea mec-12 36
  • 91 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB1 38
soybean
(Glycine max)
 eudicotyledons Gma.16674 35
rice
(Oryza sativa)
 Liliopsida Os.21762 35
bread mold
(Neurospora crassa)
 Ascomycetes NCU09132 35
  • 67.95 (n)
  • 71.43 (a)
Species with no ortholog for TUBA4A:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • 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 TUBA4A Gene

ENSEMBL:
Gene Tree for TUBA4A (if available)
TreeFam:
Gene Tree for TUBA4A (if available)

Paralogs for TUBA4A Gene

Paralogs for TUBA4A Gene

(29) SIMAP similar genes for TUBA4A Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TUBA4A Gene

genes like me logo Genes that share paralogs with TUBA4A: view

Variants for TUBA4A Gene

Sequence variations from dbSNP and Humsavar for TUBA4A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_072714 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)
VAR_072715 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)
VAR_072716 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)
VAR_072717 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)
VAR_072718 Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)

Structural Variations from Database of Genomic Variants (DGV) for TUBA4A Gene

Variant ID Type Subtype PubMed ID
nsv834543 CNV Loss 17160897
nsv508885 CNV Insertion 20534489

Variation tolerance for TUBA4A Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA4A Gene

Human Gene Mutation Database (HGMD)
TUBA4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA4A Gene

Disorders for TUBA4A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUBA4A Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 22 with or without frontotemoral dementia
  • amyotrophic lateral sclerosis 22, with or without frontotemporal dementia
mixed glioma
  • mixed gliomas
lateral sclerosis
  • motor neuron disease
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBA4A_HUMAN
  • Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22) [MIM:616208]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. {ECO:0000269 PubMed:25374358}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBA4A

Genetic Association Database (GAD)
TUBA4A
Human Genome Epidemiology (HuGE) Navigator
TUBA4A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA4A
genes like me logo Genes that share disorders with TUBA4A: view

No data available for Genatlas for TUBA4A Gene

Publications for TUBA4A Gene

  1. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. (PMID: 25374358) Smith B.N. … Landers J.E. (Neuron 2014) 3 4 67
  2. Microtubule dynamics, mitotic arrest, and apoptosis: drug-induced differential effects of betaIII-tubulin. (PMID: 20442307) Gan P.P. … Kavallaris M. (Mol. Cancer Ther. 2010) 25 26
  3. A screen for kinetochore-microtubule interaction inhibitors identifies novel antitubulin compounds. (PMID: 20657644) Screpanti E. … De Wulf P. (PLoS ONE 2010) 25 26
  4. Live cell imaging of micronucleus formation and development. (PMID: 20691709) Yasui M. … Honma M. (Mutat. Res. 2010) 25 26
  5. Structure-based virtual screening of novel tubulin inhibitors and their characterization as anti-mitotic agents. (PMID: 20810285) Kim N.D. … Kim K.H. (Bioorg. Med. Chem. 2010) 25 26

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