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    TUBB4A tubulin beta 4A class IVa [ Homo sapiens (human) ]

    Gene ID: 10382, updated on 21-May-2024

    Summary

    Official Symbol
    TUBB4Aprovided by HGNC
    Official Full Name
    tubulin beta 4A class IVaprovided by HGNC
    Primary source
    HGNC:HGNC:20774
    See related
    Ensembl:ENSG00000104833 MIM:602662; AllianceGenome:HGNC:20774
    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
    DYT4; TUBB4; beta-5
    Summary
    This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in brain (RPKM 224.5), adrenal (RPKM 54.5) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TUBB4A in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6494319..6502848, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6483817..6492345, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6494330..6502859, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 41 Neighboring gene solute carrier family 25 member 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6464149-6464690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6475606-6476345 Neighboring gene DENN domain containing 1C Neighboring gene crumbs cell polarity complex component 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6479893-6480392 Neighboring gene Sharpr-MPRA regulatory region 5032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9956 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1358 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:6506805-6507716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6516143-6516683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6532416-6532916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6532917-6533417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13838 Neighboring gene TNF superfamily member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13840 Neighboring gene TGFBR1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypomyelinating leukodystrophy 6
    MedGen: C2676244 OMIM: 612438 GeneReviews: TUBB4A-Related Leukodystrophy
    Compare labs
    Torsion dystonia 4
    MedGen: C1851943 OMIM: 128101 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2014-11-19)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2014-11-19)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    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, tubulin beta 4 (TUBB4A), 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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 calcium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    involved_in negative regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in internode region of axon IEA
    Inferred from Electronic Annotation
    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 myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    tubulin beta-4A chain
    Names
    dystonia 4, torsion (autosomal dominant)
    tubulin beta-4 chain
    tubulin, beta 4
    tubulin, beta, 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_033896.1 RefSeqGene

      Range
      5540..13530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001289123.2NP_001276052.1  tubulin beta-4A chain isoform 1

      See identical proteins and their annotated locations for NP_001276052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC010503, BC013683, DC303150
      UniProtKB/TrEMBL
      Q8IZ29, Q8N6N5
      Related
      ENSP00000470627.2, ENST00000598635.2
      Conserved Domains (2) summary
      PLN00220
      Location:52478
      PLN00220; tubulin beta chain; Provisional
      cd02187
      Location:53477
      beta_tubulin; The beta-tubulin family
    2. NM_001289127.2NP_001276056.1  tubulin beta-4A chain isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC010503, AK075307, BC013683, DC354036
      UniProtKB/TrEMBL
      Q8IZ29, Q8N6N5
      Related
      ENSP00000472375.2, ENST00000597686.6
      Conserved Domains (1) summary
      PLN00220
      Location:46472
      PLN00220; tubulin beta chain; Provisional
    3. NM_001289129.2NP_001276058.1  tubulin beta-4A chain isoform 3

      See identical proteins and their annotated locations for NP_001276058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform 3.
      Source sequence(s)
      AC010503, BC013683, DC353527
      Consensus CDS
      CCDS12168.1
      UniProtKB/Swiss-Prot
      B3KQP4, P04350, Q969E5
      UniProtKB/TrEMBL
      Q8IZ29, Q8N6N5
      Conserved Domains (1) summary
      PLN00220
      Location:1427
      PLN00220; tubulin beta chain; Provisional
    4. NM_001289130.2NP_001276059.1  tubulin beta-4A chain isoform 4

      See identical proteins and their annotated locations for NP_001276059.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 4.
      Source sequence(s)
      BC013683, DA265791
      UniProtKB/TrEMBL
      B4DQN9, B7ZAK1
      Conserved Domains (1) summary
      PLN00220
      Location:1355
      PLN00220; tubulin beta chain; Provisional
    5. NM_001289131.2NP_001276060.1  tubulin beta-4A chain isoform 4

      See identical proteins and their annotated locations for NP_001276060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform 4.
      Source sequence(s)
      BC013683, DA302559, DC314277
      UniProtKB/TrEMBL
      B4DQN9, B7ZAK1
      Related
      ENSP00000471880.2, ENST00000596291.2
      Conserved Domains (1) summary
      PLN00220
      Location:1355
      PLN00220; tubulin beta chain; Provisional
    6. NM_006087.4NP_006078.2  tubulin beta-4A chain isoform 3

      See identical proteins and their annotated locations for NP_006078.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 3 and 4 encode the same isoform 3.
      Source sequence(s)
      BC013683
      Consensus CDS
      CCDS12168.1
      UniProtKB/Swiss-Prot
      B3KQP4, P04350, Q969E5
      UniProtKB/TrEMBL
      Q8IZ29, Q8N6N5
      Related
      ENSP00000264071.1, ENST00000264071.7
      Conserved Domains (1) summary
      PLN00220
      Location:1427
      PLN00220; tubulin beta chain; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      6494319..6502848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      6483817..6492345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)