TUBA3C tubulin alpha 3c [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBA3Cprovided by HGNC
Official Full Name: tubulin alpha 3cprovided by HGNC
Primary source: HGNC:HGNC:12408
See related: Ensembl:ENSG00000198033 MIM:602528; AllianceGenome:HGNC:12408
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TUBA2; bA408E5.3
Summary: 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% identical 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. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 241.8) See more
Orthologs: all
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Genomic context

Location:: 13q12.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (19173772..19181824, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (18369346..18377395, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (19747912..19755964, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TUBA3C (and TUBA4A) are differentially expressed in individuals with poor sperm motility.
Title: Acetylated α-tubulin is reduced in individuals with poor sperm motility.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120	PubMed
	env	The binding of HIV-1 gp120 to CD4+-permissive cells increases the level of acetylated alpha-tubulin in a CD4-dependent manner; overexpression of Histone Deacetylase 6 (HDAC6) inhibits the acetylation of alpha-tubulin and prevents HIV-1-cell fusion	PubMed
Envelope surface glycoprotein gp160, precursor	env	Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1	PubMed
Envelope transmembrane glycoprotein gp41	env	Expression of HIV-1 gp41 cytoplasmic domain reduces acetylated tubulin alpha and interferes with virus-cell fusion	PubMed
Pr55(Gag)	gag	Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1	PubMed
Rev	rev	Rev acts to depolymerize microtubules that are formed by tubulin, an effect that is observed during HIV-1 infection	PubMed
Tat	tat	HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type	PubMed
	tat	HIV-1 Tat (specifically, amino acids 38-72), enhances tubulin polymerization and triggers the mitochondrial pathway to induce T cell apoptosis as shown in vitro by the release of cytochrome c from isolated mitochondria	PubMed
	tat	HIV-1 Tat causes a dramatic decrease in alpha-tubulin staining, which indicates disruption of the cytoskeleton organization in human intestinal epithelial cells	PubMed
	tat	HIV-1 Tat (amino acids 36-39) binds tubulin alpha/beta dimers and polymerized microtubules leading to the alteration of microtubule dynamics and activation of a mitochondria-dependent apoptotic pathway that is facilitated by the Bcl-2 relative Bim	PubMed
integrase	gag-pol	Co-immunoprecipitation shows interaction of HIV-1 IN with alpha-tubulin	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3688 (e-PCR)
- UniSTS:474266

GDB:555004 (e-PCR)
- UniSTS:157666

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tubulin alpha-3C chain

Names: Alpha-tubulin 3D; Tubulin alpha-3D chain; alpha-tubulin 2; alpha-tubulin 3C; alpha-tubulin 3C/D; tubulin alpha-2 chain; tubulin alpha-3C/D chain; tubulin, alpha 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006001.3 → NP_005992.1 tubulin alpha-3C chain

See identical proteins and their annotated locations for NP_005992.1

Status: REVIEWED

Source sequence(s)

AA412719, AL139327, DB026664, DB524026

Consensus CDS

CCDS9284.1

UniProtKB/Swiss-Prot

A6NJQ0, P0DPH7, P0DPH8, Q13748, Q5W099, Q6PEY3, Q96F18

UniProtKB/TrEMBL

A0AAG2UW83, Q1ZYQ1

Related

ENSP00000382982.3, ENST00000400113.8

Conserved Domains (1) summary

PTZ00335
Location:1 → 440

PTZ00335; tubulin alpha chain; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

19173772..19181824 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

18369346..18377395 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_079836.1: Suppressed sequence

Description

NM_079836.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.