Tubulin beta-4A chain

TUBB4A
Identifiers
Aliases	TUBB4A, DYT4, TUBB4, TUBB5, beta-5, tubulin beta 4A class IVa
External IDs	OMIM: 602662; MGI: 107848; GeneCards: TUBB4A
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.3 Start 6,494,319 bp End 6,502,848 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 D|17 29.66 cM Start 57,387,066 bp End 57,394,782 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum Brodmann area 10 C1 segment right frontal lobe paraflocculus of cerebellum middle frontal gyrus anterior cingulate cortex amygdala caudate nucleus internal globus pallidus Top expressed in primary visual cortex CA3 field perirhinal cortex superior frontal gyrus cerebellar cortex entorhinal cortex dentate gyrus of hippocampal formation granule cell central gray substance of midbrain neural layer of retina supraoptic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding structural constituent of cytoskeleton protein binding GTPase activity calcium ion binding Cellular component cytoplasm cytosol cell projection myelin sheath internode region of axon cilium soma microtubule extracellular exosome cytoskeleton nucleus microtubule cytoskeleton axoneme Biological process G2/M transition of mitotic cell cycle microtubule-based process cytoskeleton organization ciliary basal body-plasma membrane docking negative regulation of microtubule polymerization regulation of G2/M transition of mitotic cell cycle microtubule cytoskeleton organization mitotic cell cycle Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 10382 22153 Ensembl ENSG00000104833 ENSMUSG00000062591 UniProt P04350 Q9D6F9 RefSeq (mRNA) NM_006087 NM_001289123 NM_001289127 NM_001289129 NM_001289130 NM_001289131 NM_009451 RefSeq (protein) NP_001276052 NP_001276056 NP_001276058 NP_001276059 NP_001276060 NP_006078 NP_033477 Location (UCSC) Chr 19: 6.49 – 6.5 Mb Chr 17: 57.39 – 57.39 Mb PubMed search
Wikidata
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Tubulin beta-4A chain is a protein that in humans is encoded by the TUBB4A gene. Two tubulin beta-4 chain proteins are encoded in the human genome by the genes TUBB4A (this entry) and TUBB4B. Tubulin is the major constituent of microtubules, a key components of the cytoskeleton. It binds two molecules of GTP, one at an exchangeable site on the beta-chain and one at a non-exchangeable site on the alpha-chain. TUBB4A is preferentially and highly expressed in the central nervous system.

Clinical significance

Mutations in TUBB4A have been associated with two neurological disorders.

An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whispering dysphonia' or DYT4.

A de novo D249N mutation has been identified as the cause of a rare leukoencephalopathy, hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).

Mutations in TUBB4A are associated with Pelizaeus–Merzbacher disease.

Further reading

• Wang D, Villasante A, Lewis SA, Cowan NJ (1987). "The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype". The Journal of Cell Biology. 103 (5): 1903–1910. doi:10.1083/jcb.103.5.1903. PMC 2114403. PMID 3782288.
• Baumann MH, Wisniewski T, Levy E, Plant GT, Ghiso J (February 1996). "C-terminal fragments of alpha- and beta-tubulin form amyloid fibrils in vitro and associate with amyloid deposits of familial cerebral amyloid angiopathy, British type". Biochemical and Biophysical Research Communications. 219 (1): 238–242. doi:10.1006/bbrc.1996.0211. PMID 8619814.
• Watts NR, Sackett DL, Ward RD, Miller MW, Wingfield PT, Stahl SS, et al. (July 2000). "HIV-1 rev depolymerizes microtubules to form stable bilayered rings". The Journal of Cell Biology. 150 (2): 349–360. doi:10.1083/jcb.150.2.349. PMC 2180222. PMID 10908577.
• Tarazona R, López-Lluch G, Galiani MD, Aguado E, Barahona F, Solana R, et al. (December 2000). "HLA-B2702 (77-83/83-77) peptide binds to beta-tubulin on human NK cells and blocks their cytotoxic capacity". Journal of Immunology. 165 (12). Baltimore: 6776–6782. doi:10.4049/jimmunol.165.12.6776. PMID 11120798.
• Chen D, Wang M, Zhou S, Zhou Q (2004). "HIV-1 Tat targets microtubules to induce apoptosis, a process promoted by the pro-apoptotic Bcl-2 relative Bim". The EMBO Journal. 21 (24): 6801–6810. doi:10.1093/emboj/cdf683. PMC 139103. PMID 12486001.
• Zhang C, Dowd DR, Staal A, Gu C, Lian JB, van Wijnen AJ, et al. (September 2003). "Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing". The Journal of Biological Chemistry. 278 (37): 35325–35336. doi:10.1074/jbc.M305191200. PMID 12840015.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
• Villacé P, Marión RM, Ortín J (2004). "The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs". Nucleic Acids Research. 32 (8): 2411–2420. doi:10.1093/nar/gkh552. PMC 419443. PMID 15121898.
• Hassel S, Eichner A, Yakymovych M, Hellman U, Knaus P, Souchelnytskyi S (May 2004). "Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry". Proteomics. 4 (5): 1346–1358. doi:10.1002/pmic.200300770. PMID 15188402. S2CID 6773754.
• Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, et al. (August 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–1450. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
• Campbell GR, Pasquier E, Watkins J, Bourgarel-Rey V, Peyrot V, Esquieu D, et al. (November 2004). "The glutamine-rich region of the HIV-1 Tat protein is involved in T-cell apoptosis". The Journal of Biological Chemistry. 279 (46): 48197–48204. doi:10.1074/jbc.M406195200. PMID 15331610.
• de Mareuil J, Carre M, Barbier P, Campbell GR, Lancelot S, Opi S, et al. (February 2005). "HIV-1 Tat protein enhances microtubule polymerization". Retrovirology. 2 (1) 5. doi:10.1186/1742-4690-2-5. PMC 549075. PMID 15691386.
• Giacca M (February 2005). "HIV-1 Tat, apoptosis and the mitochondria: a tubulin link?". Retrovirology. 2 (1) 7. doi:10.1186/1742-4690-2-7. PMC 549042. PMID 15698476.
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Research. 12 (2): 117–126. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Coiras M, Camafeita E, Ureña T, López JA, Caballero F, Fernández B, et al. (April 2006). "Modifications in the human T cell proteome induced by intracellular HIV-1 Tat protein expression". Proteomics. 6 Suppl 1 (Suppl 1): S63–73. doi:10.1002/pmic.200500437. PMID 16526095. S2CID 42878271.

External links

• TUBB4A human gene location in the UCSC Genome Browser.
• TUBB4A human gene details in the UCSC Genome Browser.