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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/D Chain 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 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 TUBA3D.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA3C Gene

Genomics for TUBA3C Gene

Regulatory Elements for TUBA3C Gene

Enhancers for TUBA3C 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
GH13G019284 0.3 FANTOM5 29.3 -103.0 -103020 0.1 TUBA3C GC13M019296 PIR49599 ENSG00000232243
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBA3C on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for TUBA3C 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 TUBA3C Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for TUBA3C

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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
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 TUBA3C gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Gene Ontology (GO) - Cellular Components for TUBA3C 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 TUBA3C: view

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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBA3C: view

Drugs & Compounds for TUBA3C Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 115
Cabazitaxel Approved Pharma 0
Griseofulvin Approved, Vet_approved Pharma 6
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1967
Epothilone B Experimental, Investigational Pharma Target 67

(2) Additional Compounds for TUBA3C Gene - From: Tocris

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

(5) Tocris Compounds for TUBA3C 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

(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

Drug Products

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TUBA3C Gene



Protein tissue co-expression partners for TUBA3C Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBA3C Gene:

TUBA3C

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.

Evidence on tissue expression from TISSUES for TUBA3C Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with TUBA3C: 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 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 TUBA3E 35
  • 100 (a)
OneToOne
TUBA1D 34
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia TUBA3C 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 100 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia TUBA3C 35
  • 100 (a)
OneToOne
TUBA3E 34
  • 96 (n)
dog
(Canis familiaris)
Mammalia LOC100855995 34
  • 82.33 (n)
-- 35
  • 77 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 99 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 100 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490289 34
  • 84.85 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-199e17.1 35
  • 88 (a)
ManyToMany
tuba4l 35
  • 87 (a)
ManyToMany
tuba1l 34
  • 83.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84B 35
  • 98 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tba-2 35
  • 87 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 35
  • 74 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA5 34
  • 71.84 (n)
rice
(Oryza sativa)
Liliopsida Os07g0574800 34
  • 74.66 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 35
  • 98 (a)
OneToMany
Species where no ortholog for TUBA3C 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)
  • 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
rs1000848087 -- 19,180,629(+) CCCAC(A/G)TAGCT intron-variant, upstream-variant-2KB
rs1000921526 -- 19,180,499(+) AACTA(A/T)GAAAA intron-variant, upstream-variant-2KB
rs1001146126 -- 19,183,759(+) TACAG(A/G)CGTGT intron-variant, upstream-variant-2KB
rs1001384262 -- 19,180,322(+) CCCTT(A/G)AAGCC intron-variant, upstream-variant-2KB
rs1001412838 -- 19,175,120(+) GGTGG(C/T)GGGCG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2663766 CNV deletion 23128226
esv2673339 CNV deletion 23128226
esv3250385 CNV deletion 24192839
esv3631379 CNV gain 21293372
esv3631380 CNV loss 21293372
esv3631381 CNV loss 21293372
esv3631382 CNV loss 21293372
nsv1053637 CNV gain 25217958
nsv455824 CNV loss 19166990
nsv455825 CNV loss 19166990
nsv482166 CNV gain 20164927
nsv515683 CNV loss 19592680
nsv523647 CNV loss 19592680
nsv528089 CNV loss 19592680
nsv561202 CNV loss 21841781
nsv561203 CNV loss 21841781
nsv826573 CNV loss 20364138
nsv983548 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA3C

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

Disorders for TUBA3C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ectodermal dysplasia 2, clouston type
  • clouston syndrome
dfnb1
  • connexin 26 deafness
kabuki syndrome 1
  • kabuki syndrome
nonsyndromic deafness
  • nonsyndromic hearing loss
- 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 22 64
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. 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 22 64
  5. Graded Control of Microtubule Severing by Tubulin Glutamylation. (PMID: 26875866) Valenstein M.L. … Roll-Mecak A. (Cell 2016) 4 64

Products for TUBA3C Gene

Sources for TUBA3C Gene

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