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    TUBB3 tubulin beta 3 class III [ Homo sapiens (human) ]

    Gene ID: 10381, updated on 27-Nov-2024

    Summary

    Official Symbol
    TUBB3provided by HGNC
    Official Full Name
    tubulin beta 3 class IIIprovided by HGNC
    Primary source
    HGNC:HGNC:20772
    See related
    Ensembl:ENSG00000258947 MIM:602661; AllianceGenome:HGNC:20772
    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
    CDCBM; FEOM3; TUBB4; CDCBM1; CFEOM3; beta-4; CFEOM3A
    Summary
    This gene encodes a class III 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 primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
    Expression
    Broad expression in brain (RPKM 82.3), testis (RPKM 29.3) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TUBB3 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89921925..89936097)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96008170..96022338)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89988333..90002505)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89945913-89946582 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46826 Neighboring gene TCF25 ribosome quality control complex subunit Neighboring gene Sharpr-MPRA regulatory region 15702 Neighboring gene keratin-associated protein 5-1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89978467-89978968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89978969-89979468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89984039-89984924 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:89984925-89985808 and GRCh37_chr16:89985809-89986692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89986693-89987576 Neighboring gene Sharpr-MPRA regulatory region 7867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89991680-89992580 Neighboring gene melanocortin 1 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11430 Neighboring gene small nucleolar RNA, H/ACA box 119 Neighboring gene differentially expressed in FDCP 8 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90039036-90040019 Neighboring gene CENPB DNA-binding domain containing 1, pseudogene

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 ADA, IIIB, and MN Env (gp120) binds to TUBB3 (tubulin beta-3), which can be inhibited by a small peptide (Helix-A) derived from gp120 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
    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, TUBB3, 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
    Vpr vpr Concurrent exposure of HIV-1 Vpr with HCV core protein causes significantly increased human fetal neuron (HFN) injury, as indicated by reduced beta-III-tubulin, than HFN treated with HIV-1 Vpr alone 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 GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables netrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptide 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
     
    enables structural constituent of cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal root ganglion development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in netrin-activated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell periphery IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    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 
    is_active_in microtubule cytoskeleton 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 neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    tubulin beta-3 chain
    Names
    class III beta-tubulin
    tubulin beta-4 chain
    tubulin beta-III
    tubulin, beta 3

    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_027810.1 RefSeqGene

      Range
      6334..19089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001197181.2NP_001184110.1  tubulin beta-3 chain isoform 2

      See identical proteins and their annotated locations for NP_001184110.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC092143, AK292219, BC003021
      Consensus CDS
      CCDS56012.1
      UniProtKB/TrEMBL
      Q9BV28
      Related
      ENSP00000451617.1, ENST00000554444.5
      Conserved Domains (1) summary
      PLN00220
      Location:1375
      PLN00220; tubulin beta chain; Provisional
    2. NM_006086.4NP_006077.2  tubulin beta-3 chain isoform 1

      See identical proteins and their annotated locations for NP_006077.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK223039, BC003021, DA054466
      Consensus CDS
      CCDS10988.1
      UniProtKB/Swiss-Prot
      A8K854, Q13509, Q9BTZ0, Q9BW10
      UniProtKB/TrEMBL
      B2RBD5, Q53G92
      Related
      ENSP00000320295.7, ENST00000315491.12
      Conserved Domains (1) summary
      PLN00220
      Location:1447
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      89921925..89936097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      96008170..96022338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)