TUBA3C tubulin, alpha 3c [Homo sapiens] - Gene

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Summary

Official Symbol: TUBA3Cprovided by HGNC
Official Full Name: tubulin, alpha 3cprovided by HGNC
Primary source: HGNC:12408
See related: Ensembl:ENSG00000198033; HPRD:03958; MIM:602528; Vega:OTTHUMG00000016481
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; TUBA3D; 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]

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Genomic context

Location :: 13q11

Sequence :: Chromosome: 13; NC_000013.10 (19747910..19755992, complement)

See TUBA3C in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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
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 (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
	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 (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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
Q13748	P63167	DYNLL1	HPRD	PubMed
Q13748	P06241	FYN	HPRD	PubMed
Q13748	Q14831	GRM7	HPRD	PubMed
Q13748	P01106	MYC	HPRD	PubMed
Q13748	Q13287	NMI	HPRD	PubMed
Q13748	Q99471	PFDN5	HPRD	PubMed
Q13748	P49023	PXN	HPRD	PubMed
Q13748	Q8IUQ4	SIAH1	HPRD	PubMed
Q13748	P23258	TUBG1	HPRD	PubMed
Q13748	P27348	YWHAQ	HPRD	PubMed
BioGRID:113129	BioGRID:114023	DYRK2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:108399	FBL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:108810	FYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113129	BioGRID:114561	NMI	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:113129	BioGRID:111523	PPP4C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:113364	YWHAG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113129	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-MS

General gene information

Markers

D1S3688 (e-PCR)
- UniSTS:474266

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

Genotypes

See TUBA3C SNP Geneview Report
See TUBA3C SNP Genotype Report
See TUBA3C SNP Variation Viewer Report

Homology

Homologs of the TUBA3C gene: The TUBA3C gene is conserved in chimpanzee, dog, cow, rat, chicken, and zebrafish.

Pathways from BioSystems

Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding, organism-specific biosystem (from REACTOME)
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding, organism-specific biosystemIn the case of actin and tubulin folding, and perhaps other substrates, the emerging polypeptide chain is transferred from the ribosome to TRiC via Prefoldin (Vainberg et al., 1998).
Formation of tubulin folding intermediates by CCT/TriC, organism-specific biosystem (from REACTOME)
Formation of tubulin folding intermediates by CCT/TriC, organism-specific biosystemTriC/CCT forms a binary complex with unfolded alpha- or beta-tubulin (Frydman et al., 1992; Gao et al., 1993). The tubulin folding intermediates produced by TriC are unstable (Gao et al., 1993). Fiv...
Gap junction, organism-specific biosystem (from KEGG)
Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
Gap junction, conserved biosystem (from KEGG)
Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
Phagosome, organism-specific biosystem (from KEGG)
Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
Phagosome, conserved biosystem (from KEGG)
Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
Post-chaperonin tubulin folding pathway, organism-specific biosystem (from REACTOME)
Post-chaperonin tubulin folding pathway, organism-specific biosystemAlpha and beta tubulin folding intermediates are formed through ATPâ??dependent interaction with TriC/CCT. In order to form a functional heterodimer, these folding intermediates undergo a series of...
Prefoldin mediated transfer of substrate to CCT/TriC, organism-specific biosystem (from REACTOME)
Prefoldin mediated transfer of substrate to CCT/TriC, organism-specific biosystemUnfolded actins and tubulins bound to prefoldin are transferred to CCT via a docking mechanism (McCormack and Willison, 2001).
Protein folding, organism-specific biosystem (from REACTOME)
Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...

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General protein information

Preferred Names: tubulin alpha-3C/D chain

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

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NCBI Reference Sequences (RefSeq)

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_006001.2 → NP_005992.1 tubulin alpha-3C/D chain

Status: REVIEWED

Source sequence(s)

AA412719, AL139327, DB026664, DB524026

Consensus CDS

CCDS9284.1

UniProtKB/Swiss-Prot

Q13748

UniProtKB/TrEMBL

Q1ZYQ1

Related

ENSP00000382982, OTTHUMP00000018071, ENST00000400113, OTTHUMT00000044007

Conserved Domains (2) summary

cd02186
Location:2 – 432
Blast Score: 2460

alpha_tubulin; The tubulin superfamily includes five distinct families, the alpha-, beta-, gamma-, delta-, and epsilon-tubulins and a sixth family (zeta-tubulin) which is present only in kinetoplastid protozoa. The alpha- and beta-tubulins are the major components of ...

PTZ00335
Location:1 – 432
Blast Score: 2392

PTZ00335; tubulin alpha chain; Provisional

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

19747910..19755992, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

553740..561056, 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.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF005392.1	AAC39578.1
genomic	AL139327.18	CAH73534.1
genomic	CH471075.1	EAX08210.1
		EAX08211.1
genomic	DQ422808.1	ABD72607.1
mRNA	AA412719.1	None
mRNA	BC011721.2	AAH11721.1
mRNA	DB026664.1	None
mRNA	DB524026.1	None
mRNA	L11645.1	AAA35521.1
other-genetic	AY892915.1	AAX29832.1
other-genetic	DQ892869.2	ABM83795.1
other-genetic	DQ895938.2	ABM86864.1