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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
  • Tubulin Alpha-3C/D Chain 3
  • Alpha-Tubulin 3C/D 4
  • 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
  • GC02P131531
  • GC02P131549
  • GC02P131562

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 Signaling in Gap Junctions. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3C.

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 CIViC summary , 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 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
GH02G131036 0.6 FANTOM5 dbSUPER 16 -439.8 -439755 0.2 EZH2 TUBA3D ARHGEF4 AMER3 ENSG00000284479 GC02M131046 PIR45687
GH02G131479 0.2 dbSUPER 14.6 +3.4 3436 0.4 MZT2A TUBA3D MIR4784
GH02G131753 0.3 FANTOM5 1.3 +277.7 277680 0.3 TUBA3D LOC100419921 LOC100422473
GH02G131478 0.4 dbSUPER 0.7 +2.7 2718 0.9 FOS LOC150776 MZT2A TUBA3D MIR4784
GH02G131488 0.6 dbSUPER 0.4 +12.8 12815 1.1 POLR2A SMARCA4 EGR1 ZBTB33 REST RBFOX2 EGR2 MZT2A MIR4784 TUBA3D
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for TUBA3D 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-1C 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-450 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-1B chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).
  • 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:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
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

Inhibitory RNA Products

Clone Products

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
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 TUBA3D gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Gene Ontology (GO) - Cellular Components for TUBA3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with TUBA3D: view

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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
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 115
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Vinblastine sulfate Pharma Anti-mitotic agent, Disrupts microtubules 0

(2) Additional Compounds for TUBA3D Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolastatin 10 trifluoroacetate
MMAE
474645-27-7

(5) Tocris Compounds for TUBA3D Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Docetaxel Microtubule stabilizer 114977-28-5
Dolastatin 10 trifluoroacetate Tubulin polymerization inhibitor
MMAE Potent dolastatin 10 analog; antitumor 474645-27-7
Vinblastine sulfate Disrupts microtubules 143-67-9
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TUBA3D Gene



Protein tissue co-expression partners for TUBA3D Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUBA3D Gene:

TUBA3D

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.

Evidence on tissue expression from TISSUES for TUBA3D Gene

  • Skin(4)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with TUBA3D: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
dog
(Canis familiaris)
Mammalia TUBA3D 35
  • 100 (a)
OneToOne
LOC100855995 34
  • 82.48 (n)
mouse
(Mus musculus)
Mammalia Tuba3b 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 34
  • 98.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia TUBA1D 34 35
  • 85.91 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 99 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 100 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490289 34
  • 84.7 (n)
zebrafish
(Danio rerio)
Actinopterygii tuba7l 35
  • 94 (a)
OneToMany
tuba1l 34
  • 83.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84D 35
  • 97 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tba-1 35
  • 86 (a)
ManyToMany
tba-5 35
  • 83 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 35
  • 74 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA5 34
  • 71.31 (n)
rice
(Oryza sativa)
Liliopsida Os07g0574800 34
  • 75.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 35
  • 98 (a)
OneToMany
Species where no ortholog for TUBA3D 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)
  • 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

Pseudogenes.org Pseudogenes for TUBA3D Gene

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

Variants for TUBA3D Gene

Sequence variations from dbSNP and Humsavar for TUBA3D Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1001305595 -- 131,477,504(+) GGATT(C/G)AGGTC intron-variant
rs1002819666 -- 131,477,999(+) AGTTT(C/T)CACAG intron-variant
rs1002902032 -- 131,475,038(+) TCACT(A/G)CAACC intron-variant, upstream-variant-2KB
rs1002974080 -- 131,474,709(+) CTGAC(A/C)CAATA intron-variant, upstream-variant-2KB
rs1003667640 -- 131,479,714(+) ACACA(A/C/T)CTGTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4075n100 CNV gain 25217958
dgv4077n100 CNV gain 25217958
dgv4079n100 CNV loss 25217958
dgv4080n100 CNV gain 25217958
dgv476n27 CNV loss 19166990
esv2670824 CNV deletion 23128226
esv2759092 CNV gain+loss 17122850
esv2760576 CNV gain+loss 21179565
esv34412 CNV gain 17911159
esv34704 CNV gain 17911159
esv3575300 CNV gain 25503493
esv3584079 CNV loss 25503493
esv3592483 CNV loss 21293372
esv3592484 CNV gain 21293372
esv3893359 CNV gain+loss 25118596
nsv1002963 CNV gain 25217958
nsv1006738 CNV gain 25217958
nsv1008539 CNV gain 25217958
nsv1014682 CNV loss 25217958
nsv10183 CNV loss 18304495
nsv428404 CNV loss 18775914
nsv459396 CNV gain 19166990
nsv470486 CNV loss 18288195
nsv520930 CNV gain 19592680
nsv524021 CNV loss 19592680
nsv583140 CNV gain 21841781
nsv583142 CNV loss 21841781
nsv583143 CNV gain+loss 21841781
nsv583145 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv818082 CNV gain 17921354
nsv834376 CNV gain 17160897
nsv979124 CNV duplication 23825009
nsv997248 CNV loss 25217958

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)

Relevant External Links for TUBA3D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA3D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA3D Gene

Disorders for TUBA3D Gene

MalaCards: The human disease database

(5) MalaCards diseases for TUBA3D Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
congenital nervous system abnormality
  • congenital neurologic anomaly
ectodermal dysplasia 2, clouston type
  • clouston syndrome
heterotopia, periventricular
  • heterotopia, periventricular, ehlers-danlos variant
physical disorder
  • physical illness
epileptic encephalopathy, early infantile, 15
  • ohtahara syndrome
- 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 64
  2. Graded Control of Microtubule Severing by Tubulin Glutamylation. (PMID: 26875866) Valenstein M.L. … Roll-Mecak A. (Cell 2016) 4 64
  3. Alpha-tubulin tyrosination and CLIP-170 phosphorylation regulate the initiation of dynein-driven transport in neurons. (PMID: 26972003) Nirschl J.J. … Holzbaur E.L. (Cell Rep. 2016) 4 64
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  5. Mitosis. Microtubule detyrosination guides chromosomes during mitosis. (PMID: 25908662) Barisic M. … Maiato H. (Science 2015) 4 64

Products for TUBA3D Gene

Sources for TUBA3D Gene

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