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

Gene ID: 81027, updated on 26-Jul-2021

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
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
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
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Genomic context

See TUBB1 in Genome Data Viewer
Location:
20q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (59016026..59026654)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57594484..57601709)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene negative elongation factor complex member C/D Neighboring gene cathepsin Z Neighboring gene SLMO2-ATP5E readthrough Neighboring gene ATP synthase F1 subunit epsilon Neighboring gene PRELI domain containing 3B Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2

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
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
GeneReviews: Not available
Autosomal dominant macrothrombocytopenia TUBB1-related
MedGen: C2751259 OMIM: 613112 GeneReviews: Not available
Compare labs
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
 
enables structural constituent of cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spindle assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    59016026..59026654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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