TUBB3 tubulin beta 3 class III [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBB3provided by HGNC
Official Full Name: tubulin beta 3 class IIIprovided by HGNC
Primary source: HGNC:HGNC:20772
See related: Ensembl:ENSG00000258947 MIM:602661; AllianceGenome:HGNC:20772
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: CDCBM; FEOM3; TUBB4; CDCBM1; CFEOM3; beta-4; CFEOM3A
Summary: This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
Expression: Broad expression in brain (RPKM 82.3), testis (RPKM 29.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89921925..89936097)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (96008170..96022338)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89988333..90002505)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NOTCH3 promotes docetaxel resistance of prostate cancer cells through regulating TUBB3 and MAPK signaling pathway.
Title: NOTCH3 promotes docetaxel resistance of prostate cancer cells through regulating TUBB3 and MAPK signaling pathway.
OSGIN1 is a novel TUBB3 regulator that promotes tumor progression and gefitinib resistance in non-small cell lung cancer.
Title: OSGIN1 is a novel TUBB3 regulator that promotes tumor progression and gefitinib resistance in non-small cell lung cancer.
Tubb3 expression levels are sensitive to neuronal activity changes and determine microtubule growth and kinesin-mediated transport.
Title: Tubb3 expression levels are sensitive to neuronal activity changes and determine microtubule growth and kinesin-mediated transport.
Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.
Title: Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.
Exosomal TUBB3 mRNA expression of metastatic castration-resistant prostate cancer patients: Association with patient outcome under abiraterone.
Title: Exosomal TUBB3 mRNA expression of metastatic castration-resistant prostate cancer patients: Association with patient outcome under abiraterone.
Airway basal stem cells generate distinct subpopulations of PNECs.
Title: Airway basal stem cells generate distinct subpopulations of PNECs.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Title: TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
TUBB3 M323V Syndrome Presents with Infantile Nystagmus.
Title: TUBB3 M323V Syndrome Presents with Infantile Nystagmus.
miR-200b-3p mitigates oxaliplatin resistance via targeting TUBB3 in colorectal cancer.
Title: miR-200b-3p mitigates oxaliplatin resistance via targeting TUBB3 in colorectal cancer.
The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Title: The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Submit: New GeneRIF Correction See all GeneRIFs (139)

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

Associated conditions

Description	Tests
Complex cortical dysplasia with other brain malformations 1 MedGen: C3808397 OMIM: 614039 GeneReviews: Tubulinopathies Overview	Compare labs
Congenital Fibrosis of the Extraocular Muscles 1B MedGen: CN120300 GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview	not available
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MedGen: C2748801 OMIM: 600638 GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2017-08-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2017-08-30) ClinGen Genome Curation Page

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	HIV-1 ADA, IIIB, and MN Env (gp120) binds to TUBB3 (tubulin beta-3), which can be inhibited by a small peptide (Helix-A) derived from gp120	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
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	HIV-1 Rev interacting protein, TUBB3, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
	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	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	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 (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
Vpr	vpr	Concurrent exposure of HIV-1 Vpr with HCV core protein causes significantly increased human fetal neuron (HFN) injury, as indicated by reduced beta-III-tubulin, than HFN treated with HIV-1 Vpr alone	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

PMC156124P3 (e-PCR)
- UniSTS:271361

GDB:312714 (e-PCR)
- UniSTS:156429

MARC_24021-24022:1029778648:1 (e-PCR)
- UniSTS:268829

RH65809 (e-PCR)
- UniSTS:52004

SHGC-60611 (e-PCR)
- UniSTS:54588

RH65263 (e-PCR)
- UniSTS:48263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables netrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in dorsal root ganglion development	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in netrin-activated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cell periphery	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
is_active_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tubulin beta-3 chain

Names: class III beta-tubulin; tubulin beta-4 chain; tubulin beta-III; tubulin, beta 3

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.

Genomic

NG_027810.1 RefSeqGene

Range

6334..19089

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001197181.2 → NP_001184110.1 tubulin beta-3 chain isoform 2

See identical proteins and their annotated locations for NP_001184110.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC092143, AK292219, BC003021

Consensus CDS

CCDS56012.1

UniProtKB/TrEMBL

Q9BV28

Related

ENSP00000451617.1, ENST00000554444.5

Conserved Domains (1) summary

PLN00220
Location:1 → 375

PLN00220; tubulin beta chain; Provisional
NM_006086.4 → NP_006077.2 tubulin beta-3 chain isoform 1

See identical proteins and their annotated locations for NP_006077.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK223039, BC003021, DA054466

Consensus CDS

CCDS10988.1

UniProtKB/Swiss-Prot

A8K854, Q13509, Q9BTZ0, Q9BW10

UniProtKB/TrEMBL

B2RBD5, Q53G92

Related

ENSP00000320295.7, ENST00000315491.12

Conserved Domains (1) summary

PLN00220
Location:1 → 447

PLN00220; tubulin beta chain; Provisional