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Alpha-tubulin 3C

Protein-coding gene in the species Homo sapiens

TUBA3C
Identifiers
Aliases	TUBA3C, TUBA2, bA408E5.3, Alpha-tubulin 3C, tubulin alpha 3c
External IDs	OMIM: 602528; HomoloGene: 134742; GeneCards: TUBA3C; OMA:TUBA3C - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q12.11 Start 19,173,772 bp[1] End 19,181,824 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis oocyte male germ cell sperm tendon of biceps brachii triceps brachii muscle glutes pons Skeletal muscle tissue of rectus abdominis n/a More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding structural constituent of cytoskeleton protein binding GTPase activity Cellular component cytoplasm microtubule cytoskeleton nucleus microtubule cytoskeleton cilium ciliary basal body Biological process microtubule-based process cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7278 n/a Ensembl ENSG00000198033 n/a UniProt Q1ZYQ1 P0DPH8 n/a RefSeq (mRNA) NM_079836 NM_006001 n/a RefSeq (protein) NP_525125 NP_005992 n/a Location (UCSC) Chr 13: 19.17 – 19.18 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Tubulin alpha-3C/D chain is a protein that in humans is encoded by the TUBA3C gene.^[3][4]

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. Alternative splicing has been observed for this gene and two variants have been identified.^[4]

Alpha-tubulin 3C has been shown to interact with FYN^[5] and NMI.^[6]

• Human TUBA3C genome location and TUBA3C gene details page in the UCSC Genome Browser.

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