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    TUBA1A tubulin alpha 1a [ Homo sapiens (human) ]

    Gene ID: 7846, updated on 7-Apr-2024

    Summary

    Official Symbol
    TUBA1Aprovided by HGNC
    Official Full Name
    tubulin alpha 1aprovided by HGNC
    Primary source
    HGNC:HGNC:20766
    See related
    Ensembl:ENSG00000167552 MIM:602529; AllianceGenome:HGNC:20766
    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
    LIS3; TUBA3; B-ALPHA-1
    Summary
    Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to 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, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in brain (RPKM 459.5), endometrium (RPKM 176.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12q13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49184795..49189080, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49146977..49151264, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49578578..49582863, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521461-49521962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521963-49522462 Neighboring gene Sharpr-MPRA regulatory region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4425 Neighboring gene TUBA1B antisense RNA 1 Neighboring gene tubulin alpha 1b Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49564043-49564236 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49567207-49567412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49578576-49579076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49579077-49579577 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49582542-49583133 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49617048-49617282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4426 Neighboring gene tubulin alpha 1c Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49650243-49650960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6310 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49659281-49659494 Neighboring gene Sharpr-MPRA regulatory region 9693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49672666-49673257 Neighboring gene Sharpr-MPRA regulatory region 11054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49686422-49687185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49687186-49687948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49688028-49688945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49688946-49689862 Neighboring gene Sharpr-MPRA regulatory region 11953 Neighboring gene TROAP and PRPH antisense RNA 1 Neighboring gene peripherin

    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
    Lissencephaly due to TUBA1A mutation
    MedGen: C4305153 OMIM: 611603 GeneReviews: Tubulinopathies Overview
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-04-14)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-04-14)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of tubulin, alpha 1a (TUBA1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify subunit alpha 1a of tubulin (TUBA1A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells 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 subunit alpha 1a of tubulin (TUBA1A), 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 subunit alpha 1a of tubulin (TUBA1A), 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 subunit alpha 1a of tubulin (TUBA1A), 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 1a (TUBA1A), 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 (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 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 (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

    • FLJ25113

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centrosome cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar cortex morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton-dependent intracellular transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule-based process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in motor behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection arborization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organelle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyramidal neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in startle response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tubulin alpha-1A chain
    Names
    hum-a-tub1
    hum-a-tub2
    tubulin B-alpha-1
    tubulin alpha-3 chain
    tubulin, alpha, brain-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_008966.1 RefSeqGene

      Range
      4999..9284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270399.2NP_001257328.1  tubulin alpha-1A chain isoform 1

      See identical proteins and their annotated locations for NP_001257328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate segment at its 5' end which results in the use of a different start codon, compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1) but use distinct start codons.
      Source sequence(s)
      AK289483, BC006468, BC057823, DA117857
      Consensus CDS
      CCDS58227.1
      UniProtKB/Swiss-Prot
      A8K0B8, G3V1U9, P04687, P05209, Q71U36
      UniProtKB/TrEMBL
      A8JZY9
      Related
      ENSP00000439020.2, ENST00000295766.9
      Conserved Domains (1) summary
      PTZ00335
      Location:1440
      PTZ00335; tubulin alpha chain; Provisional
    2. NM_001270400.2NP_001257329.1  tubulin alpha-1A chain isoform 2

      See identical proteins and their annotated locations for NP_001257329.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate segment at its 5' end which results in the use of an in-frame downstream start codon, compared to variant 1. This variant encodes a protein (isoform 2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AU136397, BC006468, BC057823
      Consensus CDS
      CCDS58226.1
      UniProtKB/TrEMBL
      B3KPS3, B3KT06
      Related
      ENSP00000448725.2, ENST00000552924.2
      Conserved Domains (1) summary
      PTZ00335
      Location:1405
      PTZ00335; tubulin alpha chain; Provisional
    3. NM_006009.4NP_006000.2  tubulin alpha-1A chain isoform 1

      See identical proteins and their annotated locations for NP_006000.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes isoform 1. Variants 1 and 2 encode the same protein (isoform 1) but use distinct start codons.
      Source sequence(s)
      BC006468, BC057823, DC340080
      Consensus CDS
      CCDS8781.1
      UniProtKB/Swiss-Prot
      A8K0B8, G3V1U9, P04687, P05209, Q71U36
      UniProtKB/TrEMBL
      A8JZY9
      Related
      ENSP00000301071.7, ENST00000301071.12
      Conserved Domains (1) summary
      PTZ00335
      Location:1440
      PTZ00335; tubulin alpha 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49184795..49189080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49146977..49151264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)