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Aliases for TUBA3E Gene

Aliases for TUBA3E Gene

  • Tubulin Alpha 3e 2 3 5
  • Alpha-Tubulin 3E 4

External Ids for TUBA3E Gene

Previous GeneCards Identifiers for TUBA3E Gene

  • GC02M130666
  • GC02M130949
  • GC02M123234

Summaries for TUBA3E Gene

Entrez Gene Summary for TUBA3E 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. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]

GeneCards Summary for TUBA3E Gene

TUBA3E (Tubulin Alpha 3e) is a Protein Coding gene. Diseases associated with TUBA3E include Microlissencephaly. Among its related pathways are Development Slit-Robo signaling and EphB-EphrinB Signaling. 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 TUBA3E 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 (By similarity).

Tocris Summary for TUBA3E 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 TUBA3E Gene

Genomics for TUBA3E Gene

Regulatory Elements for TUBA3E Gene

Enhancers for TUBA3E 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
GH02F130180 0.2 ENCODE 45.7 +15.9 15925 4.5 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 TUBA3E NOC2LP1 RAB6C-AS1 MZT2B SMPD4
GH02F130157 0.5 ENCODE 31.7 +40.3 40314 1.6 HDGF CTCF EBF1 ZIC2 RELA ZFHX2 GLIS2 ZNF143 ZNF600 CREM TUBA3E PIR43925 GC02P130167 PIR36665
GH02F130202 0.2 Ensembl 29.7 -4.2 -4194 0.5 ZNF316 NFIA NR2F1 ZIC2 ZBTB20 TUBA3E ENSG00000227632 RHOQP3
GH02F130300 0.5 FANTOM5 16 -102.4 -102377 0.5 SCRT2 TUBA3E PIR62057 RPL19P4
GH02F130288 0.4 ENCODE 14.9 -90.4 -90402 0.2 SIX4 CTCF REST RAD21 POLR2A MTA1 KDM1A KDM6A TUBA3E RPL19P4 MTCYBP8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TUBA3E on UCSC Golden Path with GeneCards custom track

Genomic Location for TUBA3E Gene

Chromosome:
2
Start:
130,191,743 bp from pter
End:
130,198,461 bp from pter
Size:
6,719 bases
Orientation:
Minus strand

Genomic View for TUBA3E Gene

Genes around TUBA3E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA3E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA3E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA3E Gene

Proteins for TUBA3E Gene

  • Protein details for TUBA3E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PEY2-TBA3E_HUMAN
    Recommended name:
    Tubulin alpha-3E chain
    Protein Accession:
    Q6PEY2

    Protein attributes for TUBA3E Gene

    Size:
    450 amino acids
    Molecular mass:
    49859 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.

neXtProt entry for TUBA3E Gene

Post-translational modifications for TUBA3E 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).
  • 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 TUBA3E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA3E Gene

Domains & Families for TUBA3E Gene

Gene Families for TUBA3E Gene

Suggested Antigen Peptide Sequences for TUBA3E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PEY2

UniProtKB/Swiss-Prot:

TBA3E_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA3E: view

Function for TUBA3E Gene

Molecular function for TUBA3E 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 (By similarity).

Gene Ontology (GO) - Molecular Function for TUBA3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA3E: view
genes like me logo Genes that share phenotypes with TUBA3E: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TUBA3E Gene

Localization for TUBA3E Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA3E Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBA3E Gene COMPARTMENTS Subcellular localization image for TUBA3E gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TUBA3E 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 --
genes like me logo Genes that share ontologies with TUBA3E: view

Pathways & Interactions for TUBA3E Gene

genes like me logo Genes that share pathways with TUBA3E: view

SIGNOR curated interactions for TUBA3E Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA3E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TUBA3E: view

Drugs & Compounds for TUBA3E Gene

(5) Drugs for TUBA3E Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 111
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1918
Guanosine triphosphate Experimental Pharma 0
CYT997 Investigational Pharma Target 0
Vinblastine sulfate Pharma Anti-mitotic agent, Disrupts microtubules 0

(2) Additional Compounds for TUBA3E Gene - From: Tocris

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

(5) Tocris Compounds for TUBA3E 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 TUBA3E: view

Transcripts for TUBA3E Gene

mRNA/cDNA for TUBA3E Gene

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

Unigene Clusters for TUBA3E Gene

Tubulin, alpha 3e:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA3E Gene

No ASD Table

Relevant External Links for TUBA3E Gene

GeneLoc Exon Structure for
TUBA3E
ECgene alternative splicing isoforms for
TUBA3E

Expression for TUBA3E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA3E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBA3E Gene

This gene is overexpressed in Testis (x33.6) and Heart - Left Ventricle (x13.7).

Protein differential expression in normal tissues from HIPED for TUBA3E Gene

This gene is overexpressed in Brain (52.6) and Lung (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBA3E Gene



Protein tissue co-expression partners for TUBA3E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUBA3E Gene:

TUBA3E

SOURCE GeneReport for Unigene cluster for TUBA3E Gene:

Hs.433336
genes like me logo Genes that share expression patterns with TUBA3E: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TUBA3E Gene

Orthologs for TUBA3E Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TUBA3E Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Tuba3a 35
  • 99 (a)
OneToOne
Tuba3b 34 16
  • 90.3 (n)
chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
ManyToMany
LOC608051 34
  • 92.74 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tuba3b 34
  • 90.89 (n)
cow
(Bos Taurus)
Mammalia TUBA3E 34 35
  • 89.41 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 98 (a)
OneToMany
LOC425049 34
  • 81.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 99 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba3c 34
  • 77.8 (n)
zebrafish
(Danio rerio)
Actinopterygii tuba8l3 35
  • 94 (a)
ManyToMany
LOC795591 34
  • 82.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84D 35
  • 96 (a)
ManyToMany
alphaTub85E 34
  • 82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001219 34
  • 82.46 (n)
worm
(Caenorhabditis elegans)
Secernentea tba-4 35
  • 84 (a)
ManyToMany
mec-12 34
  • 73.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 35
  • 73 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 35
  • 96 (a)
OneToMany
Species where no ortholog for TUBA3E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBA3E Gene

ENSEMBL:
Gene Tree for TUBA3E (if available)
TreeFam:
Gene Tree for TUBA3E (if available)

Paralogs for TUBA3E Gene

Paralogs for TUBA3E Gene

Pseudogenes.org Pseudogenes for TUBA3E Gene

genes like me logo Genes that share paralogs with TUBA3E: view

Variants for TUBA3E Gene

Sequence variations from dbSNP and Humsavar for TUBA3E Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs730882212 Likely pathogenic 130,194,199(-) GTCGG(C/T)GCAAC intron-variant, reference, missense
rs10170416 -- 130,197,270(+) ggatc(A/G)cttgg intron-variant
rs10174759 -- 130,195,507(+) ACTCA(G/T)GTACA intron-variant
rs10200523 -- 130,191,730(+) CTGCA(C/T)GACAC intron-variant
rs10208844 -- 130,191,838(+) AGTAT(G/T)CTTCG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TUBA3E Gene

Variant ID Type Subtype PubMed ID
dgv2032n106 OTHER inversion 24896259
dgv2033n106 CNV deletion 24896259
dgv4073n100 CNV gain 25217958
dgv475n27 CNV gain 19166990
dgv7079n54 CNV loss 21841781
dgv7080n54 CNV gain 21841781
dgv7081n54 CNV loss 21841781
dgv7082n54 CNV loss 21841781
esv2661150 CNV deletion 23128226
esv2720767 CNV deletion 23290073
esv27317 CNV loss 19812545
esv2751826 CNV gain 17911159
esv2759092 CNV gain+loss 17122850
esv2760631 CNV gain+loss 21179565
esv2763387 CNV loss 21179565
esv3560134 CNV deletion 23714750
esv3584065 CNV loss 25503493
esv3592440 CNV loss 21293372
esv3592441 CNV gain 21293372
esv3592442 CNV loss 21293372
esv3893326 CNV gain 25118596
nsv1001337 CNV loss 25217958
nsv1004301 CNV loss 25217958
nsv1005664 CNV loss 25217958
nsv1008911 CNV gain 25217958
nsv1008970 CNV loss 25217958
nsv10165 CNV loss 18304495
nsv1069908 CNV deletion 25765185
nsv1151920 CNV deletion 26484159
nsv428403 CNV loss 18775914
nsv459274 CNV loss 19166990
nsv470485 CNV gain 18288195
nsv520559 CNV gain+loss 19592680
nsv583046 CNV loss 21841781
nsv583113 CNV gain 21841781
nsv583118 CNV loss 21841781
nsv583120 CNV loss 21841781
nsv583124 CNV loss 21841781
nsv583128 CNV loss 21841781
nsv583129 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv818080 CNV gain 17921354
nsv821629 CNV loss 15273396
nsv834375 CNV loss 17160897
nsv954154 CNV deletion 24416366
nsv961882 CNV duplication 23825009
nsv998333 CNV gain+loss 25217958

Variation tolerance for TUBA3E Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA3E Gene

Human Gene Mutation Database (HGMD)
TUBA3E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA3E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA3E Gene

Disorders for TUBA3E Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUBA3E Gene - From: GeneCards

Disorder Aliases PubMed IDs
microlissencephaly
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TUBA3E

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA3E
genes like me logo Genes that share disorders with TUBA3E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBA3E Gene

Publications for TUBA3E Gene

  1. Graded Control of Microtubule Severing by Tubulin Glutamylation. (PMID: 26875866) Valenstein M.L. … Roll-Mecak A. (Cell 2016) 4 64
  2. 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
  3. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (PMID: 25558065) Alazami A.M. … Alkuraya F.S. (Cell Rep 2015) 3 64
  4. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for TUBA3E Gene

Sources for TUBA3E Gene

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