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    TUBA4A tubulin alpha 4a [ Homo sapiens (human) ]

    Gene ID: 7277, updated on 9-Dec-2024

    Summary

    Official Symbol
    TUBA4Aprovided by HGNC
    Official Full Name
    tubulin alpha 4aprovided by HGNC
    Primary source
    HGNC:HGNC:12407
    See related
    Ensembl:ENSG00000127824 MIM:191110; AllianceGenome:HGNC:12407
    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
    ALS22; TUBA1; H2-ALPHA
    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 encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
    Expression
    Broad expression in skin (RPKM 72.2), brain (RPKM 48.6) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TUBA4A in Genome Data Viewer
    Location:
    2q35
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219249710..219254740, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219734477..219739787, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220114432..220119462, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220094395-220094942 Neighboring gene ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220109882-220110464 Neighboring gene galactosidase beta 1 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12351 Neighboring gene serine/threonine kinase 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17148 Neighboring gene tubulin alpha 4b Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220142208-220142912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220150891-220151858 Neighboring gene DnaJ heat shock protein family (Hsp40) member B2 Neighboring gene protein tyrosine phosphatase receptor type N Neighboring gene microRNA 153-1

    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
    Amyotrophic lateral sclerosis type 22 Compare labs

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify tubulin alpha 4a protein (TUBA4A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    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
    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
    Envelope transmembrane glycoprotein gp41 env Expression of HIV-1 gp41 cytoplasmic domain reduces acetylated tubulin alpha and interferes with virus-cell fusion PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify tubulin alpha 4a protein (TUBA4A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify tubulin alpha 4a protein (TUBA4A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify tubulin alpha 4a protein (TUBA4A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    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 alpha 4a (TUBA4A), 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 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
    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
    integrase gag-pol Co-immunoprecipitation shows interaction of HIV-1 IN with alpha-tubulin 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

    Clone Names

    • FLJ30169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydrolase 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 protein kinase 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 cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    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
     

    General protein information

    Preferred Names
    tubulin alpha-4A chain
    Names
    tubulin H2-alpha
    tubulin alpha-1 chain
    tubulin, alpha 1 (testis specific)

    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_029913.1 RefSeqGene

      Range
      4999..9207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278552.2NP_001265481.1  tubulin alpha-4A chain isoform 2

      See identical proteins and their annotated locations for NP_001265481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC068946, AK054731, AK299958
      Consensus CDS
      CCDS63131.1
      UniProtKB/TrEMBL
      A8JZY9
      Related
      ENSP00000375938.2, ENST00000392088.6
      Conserved Domains (1) summary
      PTZ00335
      Location:1433
      PTZ00335; tubulin alpha chain; Provisional
    2. NM_006000.3NP_005991.1  tubulin alpha-4A chain isoform 1

      See identical proteins and their annotated locations for NP_005991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC068946, AK054731, BP346611
      Consensus CDS
      CCDS2438.1
      UniProtKB/Swiss-Prot
      A8MUB1, B3KNQ6, P05215, P68366
      UniProtKB/TrEMBL
      A8JZY9
      Related
      ENSP00000248437.4, ENST00000248437.9
      Conserved Domains (1) summary
      PTZ00335
      Location:1448
      PTZ00335; tubulin alpha 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219249710..219254740 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445674.1XP_047301630.1  tubulin alpha-4A chain isoform X1

      UniProtKB/TrEMBL
      A8JZY9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219734477..219739787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343669.1XP_054199644.1  tubulin alpha-4A chain isoform X1

      UniProtKB/TrEMBL
      A8JZY9