TUBB6 tubulin beta 6 class V [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBB6provided by HGNC
Official Full Name: tubulin beta 6 class Vprovided by HGNC
Primary source: HGNC:HGNC:20776
See related: Ensembl:ENSG00000176014 MIM:615103; AllianceGenome:HGNC:20776
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FPVEPD; TUBB-5; HsT1601
Summary: Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in intercellular bridge; microtubule; and mitotic spindle. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in fat (RPKM 41.4), esophagus (RPKM 38.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.21

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (12307669..12329826)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (12470687..12492842)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (12307668..12329825)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Quantitative proteomics identifies TUBB6 as a biomarker of muscle-invasion and poor prognosis in bladder cancer.
Title: Quantitative proteomics identifies TUBB6 as a biomarker of muscle-invasion and poor prognosis in bladder cancer.
Primary myeloid cell proteomics and transcriptomics: importance of beta-tubulin isotypes for osteoclast function.
Title: Primary myeloid cell proteomics and transcriptomics: importance of β-tubulin isotypes for osteoclast function.
Methylation in the beta-tubulin TUBB6 correlated with the presence of dysplasia and accurately discriminated between dysplasia and nondysplastic tissue, even in the apparently normal field mucosa downstream from dysplastic lesions. Methylation in TUBB6 is a potential biomarker for Ulcerative colitis (UC) - associated dysplasia.
Title: Discovery and Validation of Methylation Biomarkers for Ulcerative Colitis Associated Neoplasia.
Findings enlarge the spectrum of tubulinopathies and emphasize that mutations of TUBB6 should be considered in patients with congenital non-progressive facial palsy.
Title: A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
TUBB6 is an inhibitor of pyroptosis.
Title: A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death.
Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6.
Title: A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.
betaV-tubulin expression is a potentially promising prognostic marker of malignancy.
Title: Characterization of a human βV-tubulin antibody and expression of this isotype in normal and malignant human tissue.
in colorectal cancer patients, there was a link between poor survival, the expression of TUBB3/TUBB6, and androgen receptor only in females
Title: Gender influences the class III and V β-tubulin ability to predict poor outcome in colorectal cancer.
The TUBB6 expression was largely decreased in most tumors.
Title: Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.

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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
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction MedGen: C4540277 OMIM: 617732 GeneReviews: Not available	not available

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
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	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 (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

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

MARC_24019-24020:1029775248:1 (e-PCR)
- UniSTS:268828

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

PMC314434P3 (e-PCR)
- UniSTS:272949

RH8152 (e-PCR)
- UniSTS:92295

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 GTPase activity	IEA Inferred from Electronic Annotation more info
enables metal ion 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

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
located_in extracellular exosome	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay 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
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tubulin beta-6 chain

Names: class V beta-tubulin; tubulin beta MGC4083; tubulin beta class V; tubulin, beta 6

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_001303524.1 → NP_001290453.1 tubulin beta-6 chain isoform 1

See identical proteins and their annotated locations for NP_001290453.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AK001295, CD364877, DB271698

Consensus CDS

CCDS11858.1

UniProtKB/Swiss-Prot

B3KM76, Q9BUF5, Q9HA42

UniProtKB/TrEMBL

B4DP54

Conserved Domains (1) summary

PLN00220
Location:1 → 432

PLN00220; tubulin beta chain; Provisional
NM_001303525.2 → NP_001290454.1 tubulin beta-6 chain isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 5'-terminal exon compared to variant 1. This results in a novel 3' coding region and 3' UTR. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK001295, BC039717, CX866060

Consensus CDS

CCDS77153.1

UniProtKB/TrEMBL

K7EJ64, K7ESQ3

Related

ENSP00000465040.1, ENST00000591909.5

Conserved Domains (1) summary

PTZ00010
Location:1 → 93

PTZ00010; tubulin beta chain; Provisional
NM_001303526.2 → NP_001290455.1 tubulin beta-6 chain isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.

Source sequence(s)

AK001295, BP268791, CD364877, CX866060

UniProtKB/TrEMBL

B4DP54

Related

ENSP00000468777.1, ENST00000590103.5

Conserved Domains (2) summary

PLN00220
Location:1 → 395

PLN00220; tubulin beta chain; Provisional

cd02187
Location:2 → 389

beta_tubulin; The beta-tubulin family
NM_001303527.2 → NP_001290456.1 tubulin beta-6 chain isoform 4

See identical proteins and their annotated locations for NP_001290456.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an exon in its 5' UTR and uses a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK001295, CD364877, CN367565, CX866060

UniProtKB/TrEMBL

B3KS31, B4DQN9, B7ZAK1

Conserved Domains (1) summary

PLN00220
Location:1 → 360

PLN00220; tubulin beta chain; Provisional
NM_001303528.2 → NP_001290457.1 tubulin beta-6 chain isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains an alternate internal exon, which results in a distinct 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (5) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AK001295, AP005264, CD364877, DA693982

UniProtKB/TrEMBL

Q9BUU9

Conserved Domains (1) summary

PLN00220
Location:28 → 367

PLN00220; tubulin beta chain; Provisional
NM_001303529.3 → NP_001290458.1 tubulin beta-6 chain isoform 6

See identical proteins and their annotated locations for NP_001290458.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate splice site in the 3'-terminal exon compared to variant 1. This results in a distinct 5' UTR and the use of a downstream in-frame start codon. The encoded isoform (6) has a shorter N-terminus compared to isoform 1. Both variants 7 and 8 encode the same isoform.

Source sequence(s)

AK001295, AK311364, CD364877, CX866060, DA765796

UniProtKB/TrEMBL

B4E386, Q9UGA2

Conserved Domains (1) summary

PLN00220
Location:1 → 286

PLN00220; tubulin beta chain; Provisional
NM_001303530.3 → NP_001290459.1 tubulin beta-6 chain isoform 6

See identical proteins and their annotated locations for NP_001290459.1

Status: VALIDATED

Description

Transcript Variant: This variant (8) contains an alternate exon in its 5' UTR and uses an alternate splice site in the 3'-terminal exon, compared to variant 1. This results in a distinct 5' UTR and the use of a downstream in-frame start codon. The encoded isoform (6) has a shorter N-terminus compared to isoform 1. Both variants 7 and 8 encode the same isoform.

Source sequence(s)

AK001295, AK311364, AP005264, CD364877

UniProtKB/TrEMBL

B4E386, Q9UGA2

Conserved Domains (1) summary

PLN00220
Location:1 → 286

PLN00220; tubulin beta chain; Provisional
NM_032525.3 → NP_115914.1 tubulin beta-6 chain isoform 1

See identical proteins and their annotated locations for NP_115914.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AK001295, CD364877

Consensus CDS

CCDS11858.1

UniProtKB/Swiss-Prot

B3KM76, Q9BUF5, Q9HA42

UniProtKB/TrEMBL

B4DP54

Related

ENSP00000318697.4, ENST00000317702.10

Conserved Domains (1) summary

PLN00220
Location:1 → 432

PLN00220; tubulin beta chain; Provisional