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Aliases for TUBA3D Gene

Aliases for TUBA3D Gene

  • Tubulin Alpha 3d 2 3 5
  • Alpha-Tubulin Isotype H2-Alpha 2 3
  • Tubulin Alpha-2 Chain 3 4
  • Alpha-Tubulin 3C/D 4
  • Tubulin, Alpha 3d 3
  • Alpha-Tubulin 2 4
  • TUBA3C TUBA3D 4
  • H2-ALPHA 3
  • TUBA2 4

External Ids for TUBA3D Gene

Previous GeneCards Identifiers for TUBA3D Gene

  • GC02P131952
  • GC02P132233
  • GC02P124227
  • GC02P131480
  • GC02P131495

Summaries for TUBA3D Gene

Entrez Gene Summary for TUBA3D Gene

  • This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]

GeneCards Summary for TUBA3D Gene

TUBA3D (Tubulin Alpha 3d) is a Protein Coding gene. Diseases associated with TUBA3D include Congenital Nervous System Abnormality and Ectodermal Dysplasia 2, Clouston Type. 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 TUBA3D 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 TUBA3D 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 (+).

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA3D Gene

Genomics for TUBA3D Gene

Regulatory Elements for TUBA3D Gene

Enhancers for TUBA3D 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 TUBA3D on UCSC Golden Path with GeneCards custom track

Genomic Location for TUBA3D Gene

Chromosome:
2
Start:
131,476,007 bp from pter
End:
131,482,934 bp from pter
Size:
6,928 bases
Orientation:
Plus strand

Genomic View for TUBA3D Gene

Genes around TUBA3D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA3D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA3D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA3D Gene

Proteins for TUBA3D Gene

  • Protein details for TUBA3D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13748-TBA3C_HUMAN
    Recommended name:
    Tubulin alpha-3C/D chain
    Protein Accession:
    Q13748
    Secondary Accessions:
    • A6NJQ0
    • Q5W099
    • Q6PEY3
    • Q96F18

    Protein attributes for TUBA3D Gene

    Size:
    450 amino acids
    Molecular mass:
    49960 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.
    • 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.

    Alternative splice isoforms for TUBA3D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA3D Gene

Proteomics data for TUBA3D Gene at MOPED

Post-translational modifications for TUBA3D 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).
  • 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

Other Protein References for TUBA3D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA3D Gene

Domains & Families for TUBA3D Gene

Gene Families for TUBA3D Gene

Suggested Antigen Peptide Sequences for TUBA3D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13748

UniProtKB/Swiss-Prot:

TBA3C_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA3D: view

Function for TUBA3D Gene

Molecular function for TUBA3D 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 TUBA3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TUBA3D: view
genes like me logo Genes that share phenotypes with TUBA3D: view

Animal Model Products

miRNA for TUBA3D Gene

miRTarBase miRNAs that target TUBA3D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBA3D Gene

Localization for TUBA3D Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA3D Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBA3D Gene COMPARTMENTS Subcellular localization image for TUBA3D gene
Compartment Confidence
cytoskeleton 5
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for TUBA3D Gene

Pathways & Interactions for TUBA3D Gene

genes like me logo Genes that share pathways with TUBA3D: view

Gene Ontology (GO) - Biological Process for TUBA3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBA3D: view

No data available for SIGNOR curated interactions for TUBA3D Gene

Drugs & Compounds for TUBA3D Gene

(3) Drugs for TUBA3D Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 105
Taxol Approved August 1997 Pharma Agonist Promotes assembly and inhibits disassembly of microtubules 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0

(2) Additional Compounds for TUBA3D 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 TUBA3D 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
genes like me logo Genes that share compounds with TUBA3D: view

Transcripts for TUBA3D Gene

mRNA/cDNA for TUBA3D Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TUBA3D Gene

Tubulin, alpha 3d:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA3D Gene

No ASD Table

Relevant External Links for TUBA3D Gene

GeneLoc Exon Structure for
TUBA3D
ECgene alternative splicing isoforms for
TUBA3D

Expression for TUBA3D Gene

mRNA expression in normal human tissues for TUBA3D Gene

mRNA differential expression in normal tissues according to GTEx for TUBA3D Gene

This gene is overexpressed in Testis (x29.8) and Heart - Left Ventricle (x15.4).

Protein differential expression in normal tissues from HIPED for TUBA3D Gene

This gene is overexpressed in Brain (54.1) and Lung (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBA3D Gene



SOURCE GeneReport for Unigene cluster for TUBA3D Gene Hs.503749

mRNA Expression by UniProt/SwissProt for TUBA3D Gene

Q13748-TBA3C_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with TUBA3D: view

Protein tissue co-expression partners for TUBA3D Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TUBA3D Gene

Orthologs for TUBA3D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA3D Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBA1D 35
  • 85.91 (n)
  • 97.73 (a)
TUBA1D 36
  • 97 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC100855995 35
  • 82.48 (n)
  • 88.81 (a)
TUBA3D 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 35
  • 98.67 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Tuba3b 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 99 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 100 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490289 35
  • 84.7 (n)
  • 97.73 (a)
zebrafish
(Danio rerio)
Actinopterygii tuba1l 35
  • 83.86 (n)
  • 97.73 (a)
tuba7l 36
  • 94 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84D 36
  • 97 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tba-1 36
  • 86 (a)
ManyToMany
tba-5 36
  • 83 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
  • 74 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA5 35
  • 71.31 (n)
  • 84.25 (a)
rice
(Oryza sativa)
Liliopsida Os07g0574800 35
  • 75.04 (n)
  • 83.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 36
  • 98 (a)
OneToMany
Species with no ortholog for TUBA3D:
  • 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBA3D Gene

ENSEMBL:
Gene Tree for TUBA3D (if available)
TreeFam:
Gene Tree for TUBA3D (if available)

Paralogs for TUBA3D Gene

Paralogs for TUBA3D Gene

genes like me logo Genes that share paralogs with TUBA3D: view

Variants for TUBA3D Gene

Structural Variations from Database of Genomic Variants (DGV) for TUBA3D Gene

Variant ID Type Subtype PubMed ID
dgv1247e1 CNV Complex 17122850
nsv7327 OTHER Inversion 18451855
esv2670824 CNV Deletion 23128226
nsv524021 CNV Loss 19592680
dgv1252e1 CNV Complex 17122850
dgv1254e1 CNV Complex 17122850
nsv428404 CNV Loss 18775914
dgv1256e1 CNV Complex 17122850
esv34412 CNV Gain 17911159
dgv4312n71 CNV Loss 21882294
dgv4313n71 CNV Gain 21882294
nsv520930 CNV Gain 19592680
nsv818082 CNV Gain 17921354
dgv476n27 CNV Loss 19166990
nsv459396 CNV Gain 19166990
nsv470486 CNV Loss 18288195
nsv875115 CNV Gain 21882294
esv34704 CNV Gain 17911159
essv2396 CNV CNV 17122850
dgv1257e1 CNV Complex 17122850
essv1836 CNV CNV 17122850
dgv4314n71 CNV Gain 21882294
nsv875120 CNV Loss 21882294
essv7878 CNV CNV 17122850
dgv1258e1 CNV Complex 17122850
nsv834376 CNV Gain 17160897
nsv10183 CNV Loss 18304495

Variation tolerance for TUBA3D Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.39% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Relevant External Links for TUBA3D Gene

Disorders for TUBA3D Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUBA3D Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital nervous system abnormality
  • congenital neurologic anomaly
ectodermal dysplasia 2, clouston type
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
physical disorder
  • physical illness
miller-dieker lissencephaly syndrome
  • mds
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TUBA3D

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA3D
genes like me logo Genes that share disorders with TUBA3D: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBA3D Gene

Publications for TUBA3D Gene

  1. Six mouse alpha-tubulin mRNAs encode five distinct isotypes: testis- specific expression of two sister genes. (PMID: 3785200) Villasante A. … Cowan N.J. (Mol. Cell. Biol. 1986) 2 3 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  3. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3
  4. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PMID: 23463506) Perez-Hernandez D. … YA!A+ez-MA^ M. (J. Biol. Chem. 2013) 3
  5. Systematic Analysis of the Functions of Lysine Acetylation in the Regulation of Tat Activity. (PMID: 23826228) He M. … Zhou J. (PLoS ONE 2013) 3

Products for TUBA3D Gene

Sources for TUBA3D Gene

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