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Aliases for TUBA3C Gene

Aliases for TUBA3C Gene

  • Tubulin Alpha 3c 2 3 5
  • Tubulin Alpha-2 Chain 3 4
  • Alpha-Tubulin 3C/D 3 4
  • Tubulin, Alpha 2 2 3
  • Alpha-Tubulin 2 3 4
  • TUBA2 3 4
  • Tubulin, Alpha 3c 3
  • TUBA3C TUBA3D 4
  • BA408E5.3 3

External Ids for TUBA3C Gene

Previous HGNC Symbols for TUBA3C Gene

  • TUBA2

Previous GeneCards Identifiers for TUBA3C Gene

  • GC13M018646
  • GC13M019747
  • GC13M000553

Summaries for TUBA3C Gene

Entrez Gene Summary for TUBA3C 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 is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for TUBA3C Gene

TUBA3C (Tubulin Alpha 3c) is a Protein Coding gene. Diseases associated with TUBA3C include ectodermal dysplasia 2, clouston type and dfnb1. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Transport to the Golgi and subsequent modification. 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 TUBA3C 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 TUBA3C 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 TUBA3C Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA3C Gene

Genomics for TUBA3C Gene

Regulatory Elements for TUBA3C Gene

Genomic Location for TUBA3C Gene

Chromosome:
13
Start:
19,173,770 bp from pter
End:
19,181,852 bp from pter
Size:
8,083 bases
Orientation:
Minus strand

Genomic View for TUBA3C Gene

Genes around TUBA3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA3C Gene

Proteins for TUBA3C Gene

  • Protein details for TUBA3C 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 TUBA3C 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 TUBA3C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBA3C Gene

Proteomics data for TUBA3C Gene at MOPED

Post-translational modifications for TUBA3C 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 TUBA3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA3C Gene

Domains & Families for TUBA3C Gene

Gene Families for TUBA3C Gene

Suggested Antigen Peptide Sequences for TUBA3C Gene

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 TUBA3C: view

Function for TUBA3C Gene

Molecular function for TUBA3C 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 TUBA3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TUBA3C: view
genes like me logo Genes that share phenotypes with TUBA3C: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA3C Gene

Localization for TUBA3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA3C Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBA3C Gene COMPARTMENTS Subcellular localization image for TUBA3C gene
Compartment Confidence
cytoskeleton 5
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for TUBA3C Gene

Pathways & Interactions for TUBA3C Gene

genes like me logo Genes that share pathways with TUBA3C: view

SIGNOR curated interactions for TUBA3C Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA3C 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 TUBA3C: view

Drugs & Compounds for TUBA3C Gene

(17) Drugs for TUBA3C Gene - From: DrugBank, ApexBio, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 104
Cabazitaxel Approved Pharma 0
Griseofulvin Approved Pharma 6
Taxol Approved August 1997 Pharma Agonist Promotes assembly and inhibits disassembly of microtubules 0
Epothilone B Experimental, Investigational Pharma Target 67

(2) Additional Compounds for TUBA3C 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 TUBA3C 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 TUBA3C 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 TUBA3C: view

Transcripts for TUBA3C Gene

mRNA/cDNA for TUBA3C Gene

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

Unigene Clusters for TUBA3C Gene

Tubulin, alpha 3c:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA3C Gene

No ASD Table

Relevant External Links for TUBA3C Gene

GeneLoc Exon Structure for
TUBA3C
ECgene alternative splicing isoforms for
TUBA3C

Expression for TUBA3C Gene

mRNA expression in normal human tissues for TUBA3C Gene

mRNA differential expression in normal tissues according to GTEx for TUBA3C Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for TUBA3C Gene

This gene is overexpressed in Brain (54.0) and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBA3C Gene



SOURCE GeneReport for Unigene cluster for TUBA3C Gene Hs.349695

mRNA Expression by UniProt/SwissProt for TUBA3C Gene

Q13748-TBA3C_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with TUBA3C: view

Protein tissue co-expression partners for TUBA3C Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TUBA3C Gene

Orthologs for TUBA3C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA3C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBA1D 35
  • 85.98 (n)
  • 97.73 (a)
TUBA3E 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100855995 35
  • 82.33 (n)
  • 88.81 (a)
-- 36
  • 77 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 35
  • 96 (n)
  • 100 (a)
TUBA3C 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBA3C 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 100 (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
  • 84.85 (n)
  • 97.73 (a)
zebrafish
(Danio rerio)
Actinopterygii tuba1l 35
  • 83.56 (n)
  • 97.73 (a)
si:ch73-199e17.1 36
  • 88 (a)
ManyToMany
tuba4l 36
  • 87 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84B 36
  • 98 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tba-2 36
  • 87 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
  • 74 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA5 35
  • 71.84 (n)
  • 84.25 (a)
rice
(Oryza sativa)
Liliopsida Os07g0574800 35
  • 74.66 (n)
  • 83.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 36
  • 98 (a)
OneToMany
Species with no ortholog for TUBA3C:
  • 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)
  • mouse (Mus musculus)
  • 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 TUBA3C Gene

ENSEMBL:
Gene Tree for TUBA3C (if available)
TreeFam:
Gene Tree for TUBA3C (if available)

Paralogs for TUBA3C Gene

Paralogs for TUBA3C Gene

genes like me logo Genes that share paralogs with TUBA3C: view

Variants for TUBA3C Gene

Sequence variations from dbSNP and Humsavar for TUBA3C Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1803092 - 19,173,898(-) ATTCC(A/G)TGGAA reference, missense
rs36215077 - 19,179,344(-) CTGTG(C/G)TCGGT reference, missense
rs17076703 - 19,174,041(-) CCTGG(A/T)CCATA reference, missense
rs491873 -- 19,179,298(+) CTCTC(C/T)CACCC intron-variant
rs605109 -- 19,178,485(+) AGTAC(A/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUBA3C Gene

Variant ID Type Subtype PubMed ID
nsv523647 CNV Loss 19592680
nsv899844 CNV Loss 21882294
nsv455824 CNV Loss 19166990
nsv528089 CNV Loss 19592680
nsv482166 CNV Gain 20164927
esv2663766 CNV Deletion 23128226
nsv826573 CNV Loss 20364138
esv2673339 CNV Deletion 23128226
nsv455825 CNV Loss 19166990
nsv515683 CNV Loss 19592680
dgv1548n71 CNV Gain 21882294

Variation tolerance for TUBA3C Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA3C Gene

HapMap Linkage Disequilibrium report
TUBA3C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA3C Gene

Disorders for TUBA3C Gene

MalaCards: The human disease database

(3) MalaCards diseases for TUBA3C Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 2, clouston type
  • ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
dfnb1
  • connexin 26 deafness
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TUBA3C

Genetic Association Database (GAD)
TUBA3C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA3C
genes like me logo Genes that share disorders with TUBA3C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBA3C Gene

Publications for TUBA3C Gene

  1. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). (PMID: 9465305) Dode C. … Petit C. (Genomics 1998) 2 3 4 23 67
  2. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. (PMID: 10036193) Kibar Z. … Rouleau G.A. (Genomics 1999) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Acetylated I+-tubulin is reduced in individuals with poor sperm motility. (PMID: 24268707) Bhagwat S. … Parte P. (Fertil. Steril. 2014) 3

Products for TUBA3C Gene

Sources for TUBA3C Gene

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