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

    Gene ID: 84617, updated on 10-Dec-2024

    Summary

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    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, Dec 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

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    See TUBB6 in Genome Data Viewer
    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_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12258258-12258758 Neighboring gene cell death inducing DFFA like effector a Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9307 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12276271-12276894 Neighboring gene VISTA enhancer hs1751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12287027-12288022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12288023-12289016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12289267-12290030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9310 Neighboring gene RNA, U6 small nuclear 170, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12318543-12319043 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12327565-12328414 Neighboring gene uncharacterized LOC107985154 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12334195-12335050 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12335909-12336764 Neighboring gene AFG3 like matrix AAA peptidase subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377463-12377994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377995-12378524 Neighboring gene RNA, U7 small nuclear 129 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Amino-proximal sequences of the argF and argI ornithine carbamoyltransferases from Escherichia coli K-12 [proceedings]. Gigot D, et al. Arch Int Physiol Biochim, 1978 Oct. PMID 84617
    2. Discovery and Validation of Methylation Biomarkers for Ulcerative Colitis Associated Neoplasia. Beggs AD, et al. Inflamm Bowel Dis, 2018 Jun 8. PMID 29762666, Free PMC Article
    3. Detection of human betaV-tubulin expression in epithelial cancer cell lines by tubulin proteomics. Verdier-Pinard P, et al. Biochemistry, 2005 Dec 6. PMID 16313188
    4. A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death. Salinas RE, et al. Mol Biol Cell, 2014 Jan. PMID 24173717, Free PMC Article
    5. Quantitative proteomics identifies TUBB6 as a biomarker of muscle-invasion and poor prognosis in bladder cancer. Kim B, et al. Int J Cancer, 2023 Jan 15. PMID 36054443

    See all (196) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. The TUBB6 expression was largely decreased in most tumors.
      Title: Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
    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

    Associated conditions

    Description Tests
    Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
    MedGen: C4540277 OMIM: 617732 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4083, MGC132410

    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 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 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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    8. 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

    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

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12307669..12329826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12470687..12492842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUF5.1 GenPept UniProtKB/Swiss-Prot:Q9BUF5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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