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Aliases for TUBA3E Gene

Aliases for TUBA3E Gene

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

External Ids for TUBA3E Gene

Previous GeneCards Identifiers for TUBA3E Gene

  • GC02M130666
  • GC02M130949
  • GC02M123234

Summaries for TUBA3E Gene

GeneCards Summary for TUBA3E Gene

TUBA3E (Tubulin, Alpha 3e) is a Protein Coding gene. Diseases associated with TUBA3E include periventricular nodular heterotopia and ohtahara syndrome. 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 Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA3E Gene

Genomics for TUBA3E Gene

Regulatory Elements for TUBA3E Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TUBA3E Gene at MOPED

Post-translational modifications for TUBA3E 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 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA3E

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
nucleus 5
cytoskeleton 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:0005874 microtubule IEA --
GO:0043234 protein complex --
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:0007017 microtubule-based process IEA --
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
GO:0051258 protein polymerization IEA --
genes like me logo Genes that share ontologies with TUBA3E: view

Drugs & Compounds for TUBA3E Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
CYT997 Investigational Pharma Target 0
MPC 6827 hydrochloride Pharma Potent microtubule inhibitor, Inhibitor of microtubule polymerization; antimitotic and antitumor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ABT 751
141430-65-1
combretastatin a4
117048-59-6
Noscapine hydrochloride
912-60-7
Vinblastine sulfate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA3E

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 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, MOPED, and MaxQB for TUBA3E Gene



SOURCE GeneReport for Unigene cluster for TUBA3E Gene Hs.433336

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

Protein tissue co-expression partners for TUBA3E Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
cow
(Bos Taurus)
Mammalia TUBA3E 35
  • 89.41 (n)
  • 98.89 (a)
TUBA3E 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608051 35
  • 92.74 (n)
  • 98.89 (a)
-- 36
  • 98 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Tuba3b 35
  • 90.3 (n)
  • 98.89 (a)
Tuba3a 16
Tuba3a 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tuba3b 35
  • 90.89 (n)
  • 98.89 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia TUBA3E 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC425049 35
  • 81.33 (n)
  • 98 (a)
-- 36
  • 98 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 99 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba3c 35
  • 77.8 (n)
  • 94.09 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC795591 35
  • 82.8 (n)
  • 96.36 (a)
tuba8l3 36
  • 94 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001219 35
  • 82.46 (n)
  • 97.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub85E 35
  • 82 (n)
  • 94.99 (a)
alphaTub84D 36
  • 96 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mec-12 35
  • 73.86 (n)
  • 91.59 (a)
tba-4 36
  • 84 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
  • 73 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11340 36
  • 96 (a)
OneToMany
Species with no ortholog for TUBA3E:
  • 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 MAF
VAR_052667 -
VAR_052668 -
VAR_052669 -
VAR_054640 -
VAR_054641 -

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

Variant ID Type Subtype PubMed ID
nsv821629 CNV Loss 15273396
nsv459274 CNV Loss 19166990
dgv1247e1 CNV Complex 17122850
esv2751826 CNV Gain 17911159
dgv1249e1 CNV Complex 17122850
dgv1250e1 CNV Complex 17122850
nsv428403 CNV Loss 18775914
dgv4305n71 CNV Gain 21882294
dgv4306n71 CNV Gain 21882294
essv1878 CNV CNV 17122850
nsv875061 CNV Gain 21882294
nsv834375 CNV Loss 17160897
nsv7327 OTHER Inversion 18451855
nsv875074 CNV Gain 21882294
dgv4307n71 CNV Gain 21882294
nsv520559 CNV Gain+Loss 19592680
nsv875084 CNV Gain+Loss 21882294
nsv875086 CNV Gain 21882294
nsv875087 CNV Gain 21882294
dgv4308n71 CNV Gain 21882294
nsv470485 CNV Gain 18288195
nsv818080 CNV Gain 17921354
dgv475n27 CNV Gain 19166990
essv2399 CNV CNV 17122850
esv27317 CNV Loss 19812545
nsv10165 CNV Loss 18304495
esv2720767 CNV Deletion 23290073
esv2661150 CNV Deletion 23128226

Variation tolerance for TUBA3E Gene

Residual Variation Intolerance Score: 83.71% 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

HapMap Linkage Disequilibrium report
TUBA3E
Human Gene Mutation Database (HGMD)
TUBA3E

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

Disorders for TUBA3E Gene

MalaCards: The human disease database

(2) MalaCards diseases for TUBA3E Gene - From: DISEASES

Disorder Aliases PubMed IDs
periventricular nodular heterotopia
  • periventricular heterotopia
ohtahara syndrome
  • epileptic encephalopathy, early infantile, 15
- elite association

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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 67
  5. 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) 67

Products for TUBA3E Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate TUBA3E
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA3E
    • Block miRNA regulation of TUBA3E using miScript Target Protectors

    Sources for TUBA3E Gene

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