Tubulin alpha-4A chain

UniProt P68366 Organism Homo sapiens Gene TUBA1, TUBA4A EC 3.6.5.-

Also known as: TUBA1, TUBA4A

Function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.

Classification

Family (Pfam): PF00091 Tubulin, PF03953 Tubulin_C
InterPro: Alpha_tubulin, Tub_FtsZ_C, Tubulin, Tubulin/FtsZ-like_C, Tubulin/FtsZ_2-layer-sand-dom, Tubulin/FtsZ_GTPase_sf, Tubulin_C, Tubulin_CS, Tubulin_FtsZ_GTPase
Functional cluster: Tubulins & Mitochondrial Metabolic Enzymes

Gene Ontology · 16

Disease associations

amyotrophic lateral sclerosis type 22 MONDO:0014531
congenital myopathy 26 MONDO:0979229
spastic ataxia 11, autosomal dominant MONDO:0979230
oocyte/zygote/embryo maturation arrest 23 MONDO:0979231

Drugs targeting this protein · 35

COLCHICINE inhibitor
ANG1005 inhibitor
PLINABULIN inhibitor
CABAZITAXEL inhibitor
IXABEPILONE inhibitor
ERIBULIN MESYLATE inhibitor
DAVUNETIDE stabiliser
CROLIBULIN inhibitor
VINFLUNINE DITARTRATE inhibitor
FOSBRETABULIN TROMETHAMINE disrupting agent
MILATAXEL inhibitor
VINFLUNINE inhibitor
TASIDOTIN inhibitor
SAGOPILONE stabiliser
FOSBRETABULIN DISODIUM inhibitor
DOCETAXEL inhibitor
VINBLASTINE SULFATE inhibitor
DOLASTATIN-10 inhibitor
SOBLIDOTIN inhibitor
LAROTAXEL stabiliser
PACLITAXEL inhibitor
BMS-275183 stabiliser
KOS-1584 stabiliser
T-900607 disrupting agent
PACLITAXEL DOCOSAHEXAENOIC ACID stabiliser
PLOCABULIN inhibitor
VERUBULIN disrupting agent
INDIBULIN inhibitor
VINCRISTINE SULFATE inhibitor
VINORELBINE TARTRATE inhibitor
LEXIBULIN inhibitor
OMBRABULIN inhibitor
DOCETAXEL ANHYDROUS stabiliser
PATUPILONE stabiliser
EPOTHILONE D stabiliser

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Tubulin alpha-4A chain 1 shared papers
Tubulin alpha-1C chain 4 shared papers
Tubulin alpha-3C chain 3 shared papers
Tubulin alpha-3D chain 3 shared papers
Tubulin alpha-3E chain 3 shared papers
Microtubule-associated tyrosine carboxypeptidase 1 1 shared papers
Microtubule-associated tyrosine carboxypeptidase 1 1 shared papers
Tubulin alpha-1A chain 3 shared papers
Tubulin alpha-8 chain 2 shared papers
Tubulin alpha-1B chain 3 shared papers
Alpha-tubulin N-acetyltransferase 1 1 shared papers
Tubulin beta-3 chain 2 shared papers

Literature · 24 cited papers

Mutations in TUBA4A lead to human zygotic arrest and early developmental failure. Life Med. · 2023
Biallelic variants in alpha-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest. J. Med. Genet. · 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity. Brain · 2024
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation. J. Med. Genet. · 2024
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A. J. Neurol. · 2023
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects. Genome Biol. · 2023
Posttranslational modification of microtubules by the MATCAP detyrosinase. Science · 2022
Novel TUBA4A variant associated with familial frontotemporal dementia. Neurol. Genet. · 2021
Graded control of microtubule severing by tubulin glutamylation. Cell · 2016
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron · 2014
Molecular basis for age-dependent microtubule acetylation by tubulin acetyltransferase. Cell · 2014
… and 12 more in the literature graph

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