Homo sapiens Gene: TUBB4A
Summary
InnateDB Gene IDBG-21605.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TUBB4A
Gene Name tubulin, beta 4A class IVa
Synonyms beta-5; DYT4; TUBB4; TUBB5;
Species Homo sapiens
Ensembl Gene ENSG00000104833
Encoded Proteins
tubulin, beta 4A class IVa
tubulin, beta 4A class IVa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:6494319-6502848
Strand Reverse strand
Band p13.3
Transcripts
ENST00000264071 ENSP00000264071
ENST00000540257 ENSP00000443590
ENST00000598006 ENSP00000472795
ENST00000596291 ENSP00000471880
ENST00000596926 ENSP00000468843
ENST00000598635 ENSP00000470627
ENST00000594276 ENSP00000472481
ENST00000601152 ENSP00000471320
ENST00000600216 ENSP00000470983
ENST00000594290 ENSP00000471503
ENST00000601640 ENSP00000469660
ENST00000597686 ENSP00000472375
ENST00000594075 ENSP00000469936
ENST00000595324 ENSP00000469560
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 46 [view]
Protein-Protein 45 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000278 mitotic cell cycle
GO:0006184 GTP catabolic process
GO:0006457 protein folding
GO:0007017 microtubule-based process
GO:0044267 cellular protein metabolic process
GO:0051084 'de novo' posttranslational protein folding
GO:0051258 protein polymerization
GO:0051297 centrosome organization
Cellular Component
GO:0000242 pericentriolar material
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005929 cilium
GO:0033269 internode region of axon
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
Formation of tubulin folding intermediates by CCT/TriC pathway
Protein folding pathway
Post-chaperonin tubulin folding pathway pathway
MHC class II antigen presentation pathway
Transmembrane transport of small molecules pathway
Kinesins pathway
Developmental Biology pathway
Signaling by Hedgehog pathway
Recruitment of NuMA to mitotic centrosomes pathway
Loss of Nlp from mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Transport of connexons to the plasma membrane pathway
Axon guidance pathway
Signal Transduction pathway
Separation of Sister Chromatids pathway
Hedgehog 'off' state pathway
Gap junction trafficking pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Chaperonin-mediated protein folding pathway
Mitotic Prometaphase pathway
Cell Cycle pathway
Recycling pathway of L1 pathway
Orphan transporters pathway
Metabolism of proteins pathway
Adaptive Immune System pathway
Immune System pathway
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway
Gap junction assembly pathway
M Phase pathway
Mitotic Anaphase pathway
Centrosome maturation pathway
G2/M Transition pathway
Translocation of GLUT4 to the plasma membrane pathway
L1CAM interactions pathway
Factors involved in megakaryocyte development and platelet production pathway
Prefoldin mediated transfer of substrate to CCT/TriC pathway
Cell Cycle, Mitotic pathway
Loss of proteins required for interphase microtubule organization√?¬†from the centrosome pathway
Mitotic G2-G2/M phases pathway
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
Resolution of Sister Chromatid Cohesion pathway
Gap junction trafficking and regulation pathway
Hemostasis pathway
Membrane Trafficking pathway
Mitotic Metaphase and Anaphase pathway
KEGG
Phagosome pathway
Gap junction pathway
Pathogenic Escherichia coli infection pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.110837
RefSeq NM_001289123 NM_001289127 NM_001289129 NM_001289130 NM_001289131 NM_006087
HUGO
OMIM
CCDS CCDS12168
HPRD 04045
IMGT
EMBL
GenPept
RNA Seq Atlas