Misplaced Pages

Tubulin beta-4A chain

Article snapshot taken from[REDACTED] with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein-coding gene in the species Homo sapiens
TUBB4A
Identifiers
AliasesTUBB4A, DYT4, TUBB4, TUBB5, beta-5, tubulin beta 4A class IVa
External IDsOMIM: 602662; MGI: 107848; HomoloGene: 55952; GeneCards: TUBB4A; OMA:TUBB4A - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)
Chromosome 19 (human)Genomic location for TUBB4AGenomic location for TUBB4A
Band19p13.3Start6,494,319 bp
End6,502,848 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for TUBB4AGenomic location for TUBB4A
Band17 D|17 29.66 cMStart57,387,066 bp
End57,394,782 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 17: 57.39 – 57.39 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000104833Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000062591Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hall JL, Dudley L, Dobner PR, Lewis SA, Cowan NJ (Aug 1983). "Identification of two human beta-tubulin isotypes". Molecular and Cellular Biology. 3 (5): 854–862. doi:10.1128/mcb.3.5.854. PMC 368608. PMID 6865944.
  6. Lee MG, Loomis C, Cowan NJ (Sep 1984). "Sequence of an expressed human beta-tubulin gene containing ten Alu family members". Nucleic Acids Research. 12 (14): 5823–5836. doi:10.1093/nar/12.14.5823. PMC 320034. PMID 6462917.
  7. "Entrez Gene: TUBB4 tubulin, beta 4".
  8. "UCSC Genome Browser: TUBB4A microarray expression".
  9. Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (December 2012). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology. 73 (4): 546–553. doi:10.1002/ana.23832. PMC 3698699. PMID 23424103.
  10. Online Mendelian Inheritance in Man (OMIM): Dystonia 4, torsion, autosomal dominant; DYT4 - 128101
  11. Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A (May 2013). "A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum". American Journal of Human Genetics. 92 (5): 767–773. doi:10.1016/j.ajhg.2013.03.018. PMC 3644625. PMID 23582646.
  12. Online Mendelian Inheritance in Man (OMIM): Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; HABC - 128101
  13. Shimojima, K; Okumura, A; Ikeno, M; Nishimura, A; Saito, A; Saitsu, H; Matsumoto, N; Yamamoto, T (2014). "A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease". Brain & Development. 37 (3): 281–285. doi:10.1016/j.braindev.2014.05.004. PMID 24974158.

Further reading

External links

PDB gallery
  • 1ffx: TUBULIN:STATHMIN-LIKE DOMAIN COMPLEX 1ffx: TUBULIN:STATHMIN-LIKE DOMAIN COMPLEX
  • 1ia0: KIF1A HEAD-MICROTUBULE COMPLEX STRUCTURE IN ATP-FORM 1ia0: KIF1A HEAD-MICROTUBULE COMPLEX STRUCTURE IN ATP-FORM
  • 1jff: Refined structure of alpha-beta tubulin from zinc-induced sheets stabilized with taxol 1jff: Refined structure of alpha-beta tubulin from zinc-induced sheets stabilized with taxol
  • 1sa0: TUBULIN-COLCHICINE: STATHMIN-LIKE DOMAIN COMPLEX 1sa0: TUBULIN-COLCHICINE: STATHMIN-LIKE DOMAIN COMPLEX
  • 1sa1: Tubulin-podophyllotoxin: stathmin-like domain complex 1sa1: Tubulin-podophyllotoxin: stathmin-like domain complex
  • 1tub: TUBULIN ALPHA-BETA DIMER, ELECTRON DIFFRACTION 1tub: TUBULIN ALPHA-BETA DIMER, ELECTRON DIFFRACTION
  • 1tvk: The binding mode of epothilone A on a,b-tubulin by electron crystallography 1tvk: The binding mode of epothilone A on a,b-tubulin by electron crystallography
  • 1z2b: Tubulin-colchicine-vinblastine: stathmin-like domain complex 1z2b: Tubulin-colchicine-vinblastine: stathmin-like domain complex
  • 2hxf: KIF1A head-microtubule complex structure in amppnp-form 2hxf: KIF1A head-microtubule complex structure in amppnp-form
  • 2hxh: KIF1A head-microtubule complex structure in adp-form 2hxh: KIF1A head-microtubule complex structure in adp-form


Stub icon

This article on a gene on human chromosome 19 is a stub. You can help Misplaced Pages by expanding it.

Categories:
Tubulin beta-4A chain Add topic