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    TUBB1 tubulin beta 1 class VI [ Homo sapiens (human) ]

    Gene ID: 81027, updated on 10-Dec-2024

    Summary

    Official Symbol
    TUBB1provided by HGNC
    Official Full Name
    tubulin beta 1 class VIprovided by HGNC
    Primary source
    HGNC:HGNC:16257
    See related
    Ensembl:ENSG00000101162 MIM:612901; AllianceGenome:HGNC:16257
    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
    MACTHC1
    Summary
    This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
    Annotation information
    Note: TUBB1 (Gene ID: 81027) and TUBB (Gene ID: 203068) share the TUBB1 symbol/alias in common. [07 Feb 2019]
    Expression
    Biased expression in bone marrow (RPKM 4.6), spleen (RPKM 3.2) and 10 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TUBB1 in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59016438..59026654)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60799451..60809767)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57594484..57601709)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:57556569-57557069 Neighboring gene negative elongation factor complex member C/D Neighboring gene cathepsin Z Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57581561-57582372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18186 Neighboring gene NANOG hESC enhancer GRCh37_chr20:57603869-57604399 Neighboring gene SLMO2-ATP5E readthrough Neighboring gene ATP synthase F1 subunit epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13087 Neighboring gene PRELI domain containing 3B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13088 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:57638504-57639703 Neighboring gene uncharacterized LOC124904943

    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
    Macrothrombocytopenia, isolated, 1, autosomal dominant
    MedGen: C5676892 OMIM: 613112 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    HIV-1 interactions

    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 (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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 microtubule polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spindle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid hormone transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    tubulin beta-1 chain
    Names
    tubulin, beta 1

    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_023424.2 RefSeqGene

      Range
      5001..12401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_581

    mRNA and Protein(s)

    1. NM_030773.4NP_110400.1  tubulin beta-1 chain

      See identical proteins and their annotated locations for NP_110400.1

      Status: REVIEWED

      Source sequence(s)
      AJ292757, AL109840
      Consensus CDS
      CCDS13475.1
      UniProtKB/Swiss-Prot
      Q9H4B7
      Related
      ENSP00000217133.1, ENST00000217133.2
      Conserved Domains (1) summary
      PTZ00010
      Location:1428
      PTZ00010; 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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59016438..59026654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028085.2XP_016883574.1  tubulin beta-1 chain isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      60799451..60809767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324080.1XP_054180055.1  tubulin beta-1 chain isoform X1