Homo sapiens Gene: TUBB4A | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 19:6494319-6502848 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | p13.3 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
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Gene ID
Gene Order
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Resolution of Sister Chromatid Cohesion pathway
Mitotic Prometaphase pathway
Separation of Sister Chromatids pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Recruitment of NuMA to mitotic centrosomes pathway
Recruitment of mitotic centrosome proteins and complexes pathway
MHC class II antigen presentation pathway
Kinesins pathway
Factors involved in megakaryocyte development and platelet production pathway
Post-chaperonin tubulin folding pathway pathway
Prefoldin mediated transfer of substrate to CCT/TriC pathway
Formation of tubulin folding intermediates by CCT/TriC pathway
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane pathway
Transport of connexons to the plasma membrane pathway
Gap junction assembly pathway
Translocation of GLUT4 to the plasma membrane pathway
Recycling pathway of L1 pathway
L1CAM interactions pathway
Protein folding pathway
Transmembrane transport of small molecules pathway
Developmental Biology pathway
Signaling by Hedgehog pathway
Axon guidance pathway
Signal Transduction pathway
Hedgehog 'off' state pathway
Gap junction trafficking pathway
Chaperonin-mediated protein folding pathway
Cell Cycle 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
M Phase pathway
Mitotic Anaphase pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
Gap junction trafficking and regulation pathway
Hemostasis pathway
Membrane Trafficking pathway
Mitotic Metaphase and Anaphase pathway
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KEGG |
Pathogenic Escherichia coli infection pathway
Gap junction pathway
Phagosome pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | M0R2D3 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 10382 | ||||||||||||||||||||||
UniGene | Hs.110837 | ||||||||||||||||||||||
RefSeq | NM_001289123 NM_001289127 NM_001289129 NM_001289130 NM_001289131 NM_006087 | ||||||||||||||||||||||
HUGO | HGNC:20774 | ||||||||||||||||||||||
OMIM | 602662 | ||||||||||||||||||||||
CCDS | CCDS12168 | ||||||||||||||||||||||
HPRD | 04045 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC010503 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 10382 | ||||||||||||||||||||||