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TUBB1 Gene(Protein Coding)

Tubulin Beta 1 Class VI

GCID:
GC20P059020
GIFtS:
58
Genes Participants
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Aliases for TUBB1 Gene

Aliases for TUBB1 Gene

  • Tubulin Beta 1 Class VI 2 3 5
  • Class VI Beta-Tubulin 2
  • Tubulin, Beta 1 2

External Ids for TUBB1 Gene

Previous GeneCards Identifiers for TUBB1 Gene

  • GC20P057322
  • GC20P058232
  • GC20P058279
  • GC20P057027
  • GC20P057594
  • GC20P054381

Summaries for TUBB1 Gene

Entrez Gene Summary for TUBB1 Gene

  • 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]

GeneCards Summary for TUBB1 Gene

TUBB1 (Tubulin Beta 1 Class VI) is a Protein Coding gene. Diseases associated with TUBB1 include Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are Development Slit-Robo signaling and PAK Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.

UniProtKB/Swiss-Prot for TUBB1 Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).

Tocris Summary for TUBB1 Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBB1 Gene

Additional gene information for TUBB1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB1 Gene

Genomics for TUBB1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TUBB1 Gene

Promoters and enhancers for TUBB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20I059020 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.9 1908 1.1 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 NCOA1 ZNF592 TUBB1 ATP5F1E
GH20I059018 Enhancer 0.7 dbSUPER 550.8 -0.2 -159 0.8 PKNOX1 RELA ZNF316 MTA3 POLR2A VEZF1 NFE2 MAFG MNT ZNF83 TUBB1 CTSZ
GH20I059158 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 1.6 +144.2 144187 9.2 CTCF FOXA2 NFIB GATAD2B RAD21 ZBTB40 FOXA1 GATA3 LCORL NFIC ZNF831 TUBB1 EDN3
GH20I059176 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 1.4 +159.3 159338 3.5 CTCF ZNF623 ZNF831 TUBB1 EDN3
GH20I059016 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.8 -2.2 -2188 1.7 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 FOS SP5 MIER2 PRELID3B TUBB1 CTSZ
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TUBB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUBB1 gene promoter:

Genomic Locations for TUBB1 Gene

Genomic Locations for TUBB1 Gene
chr20:59,019,254-59,026,654
(GRCh38/hg38)
Size:
7,401 bases
Orientation:
Plus strand
chr20:57,594,309-57,601,709
(GRCh37/hg19)

Genomic View for TUBB1 Gene

Genes around TUBB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TUBB1 Gene

Proteins for TUBB1 Gene

Products:

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  • Protein details for TUBB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4B7-TBB1_HUMAN
    Recommended name:
    Tubulin beta-1 chain
    Protein Accession:
    Q9H4B7

    Protein attributes for TUBB1 Gene

    Size:
    451 amino acids
    Molecular mass:
    50327 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10.

neXtProt entry for TUBB1 Gene

Protein Expression for TUBB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TUBB1 Gene

  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).

Other Protein References for TUBB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB1 Gene

Domains & Families for TUBB1 Gene

Gene Families for TUBB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TUBB1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TUBB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4B7

UniProtKB/Swiss-Prot:

TBB1_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB1: view

Function for TUBB1 Gene

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  2. CRISPR
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Molecular function for TUBB1 Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).

Phenotypes From GWAS Catalog for TUBB1 Gene

Gene Ontology (GO) - Molecular Function for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB1: view
genes like me logo Genes that share phenotypes with TUBB1: view

Human Phenotype Ontology for TUBB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TUBB1 Gene

MGI Knock Outs for TUBB1:

Animal Model Products

miRNA for TUBB1 Gene

miRTarBase miRNAs that target TUBB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TUBB1 Gene

Localization for TUBB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBB1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18849486
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0070062 extracellular exosome IDA,HDA 23533145
genes like me logo Genes that share ontologies with TUBB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TUBB1 Gene

Pathways & Interactions for TUBB1 Gene

genes like me logo Genes that share pathways with TUBB1: view

Gene Ontology (GO) - Biological Process for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0051225 spindle assembly IEA --
genes like me logo Genes that share ontologies with TUBB1: view

No data available for SIGNOR curated interactions for TUBB1 Gene

Drugs & Compounds for TUBB1 Gene

Products:

  1. Drug

(32) Drugs for TUBB1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved May 1996, Investigational Pharma Target, Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Cabazitaxel Approved Pharma Target, binder, inhibitor 0
Paclitaxel Approved, Vet_approved Pharma Target, inhibitor, Biomarker, binder Tubulin and Bcl2 inhibitor, Taxanes 3027
Vindesine Approved, Investigational Pharma Target, inhibitor, binder 49
Colchicine Approved Pharma Antagonist, Target, inhibitor Tubulin Inhibitor 118

(2) Additional Compounds for TUBB1 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TUBB1 Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9

(1) ApexBio Compounds for TUBB1 Gene

Compound Action Cas Number
Cabazitaxel 183133-96-2
genes like me logo Genes that share compounds with TUBB1: view

Drug Products

Transcripts for TUBB1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TUBB1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(40) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TUBB1 Gene

Tubulin, beta 1 class VI:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB1 Gene

No ASD Table

Relevant External Links for TUBB1 Gene

GeneLoc Exon Structure for
TUBB1
ECgene alternative splicing isoforms for
TUBB1

Expression for TUBB1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBB1 Gene

mRNA expression in normal human tissues for TUBB1 Gene
mRNA expression by BioGPS for TUBB1 GenemRNA expression by GTEx for TUBB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB1 Gene

This gene is overexpressed in Whole Blood (x38.4).

Protein differential expression in normal tissues from HIPED for TUBB1 Gene

This gene is overexpressed in Platelet (43.1) and Peripheral blood mononuclear cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TUBB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TUBB1 Gene:

TUBB1

SOURCE GeneReport for Unigene cluster for TUBB1 Gene:

Hs.303023

mRNA Expression by UniProt/SwissProt for TUBB1 Gene:

Q9H4B7-TBB1_HUMAN
Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins.

Evidence on tissue expression from TISSUES for TUBB1 Gene

  • Blood(4.5)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Organs:
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TUBB1: view

No data available for Protein tissue co-expression partners for TUBB1 Gene

Orthologs for TUBB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TUBB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TUBB1 33 34
  • 99.56 (n)
oppossum
(Monodelphis domestica)
 Mammalia TUBB1 34
  • 90 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TUBB1 34
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tubb1 33 16 34
  • 85.37 (n)
rat
(Rattus norvegicus)
 Mammalia Tubb1 33
  • 85.34 (n)
cow
(Bos Taurus)
 Mammalia TUBB1 33 34
  • 84.42 (n)
dog
(Canis familiaris)
 Mammalia TUBB1 33 34
  • 81.4 (n)
chicken
(Gallus gallus)
 Aves TUBB1 33 34
  • 76.28 (n)
lizard
(Anolis carolinensis)
 Reptilia TUBB1 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100498230 33
  • 76.77 (n)
zebrafish
(Danio rerio)
 Actinopterygii tubb1 33 34
  • 71.78 (n)
fruit fly
(Drosophila melanogaster)
 Insecta bgrTub56D 35
  • 87 (a)
bgrTub85D 35
  • 79 (a)
betaTub85D 34
  • 78 (a)
 OneToMany
bgrTub60D 35
  • 77 (a)
CG4869 35
  • 77 (a)
worm
(Caenorhabditis elegans)
 Secernentea mec-7 35 34
  • 78 (a)
tbb-2 35
  • 78 (a)
ben-1 35
  • 77 (a)
tbb-4 35 34
  • 77 (a)
tbb-1 35
  • 76 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB2 34
  • 66 (a)
 OneToMany
Species where no ortholog for TUBB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBB1 Gene

ENSEMBL:
Gene Tree for TUBB1 (if available)
TreeFam:
Gene Tree for TUBB1 (if available)

Paralogs for TUBB1 Gene

Paralogs for TUBB1 Gene

(26) SIMAP similar genes for TUBB1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TUBB1 Gene

genes like me logo Genes that share paralogs with TUBB1: view

Variants for TUBB1 Gene

Sequence variations from dbSNP and Humsavar for TUBB1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs121918555 pathogenic, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112] 59,024,379(+) C/T coding_sequence_variant, missense_variant
rs1057517996 likely-pathogenic, not provided 59,024,206(+) T/C coding_sequence_variant, missense_variant
rs140943896 likely-benign, not provided 59,024,502(+) C/T coding_sequence_variant, missense_variant
rs1000020960 -- 59,015,588(+) G/A upstream_transcript_variant
rs1000257414 -- 59,014,842(+) C/T upstream_transcript_variant

Variation tolerance for TUBB1 Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.76; 89.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB1 Gene

Human Gene Mutation Database (HGMD)
TUBB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TUBB1 Gene

Disorders for TUBB1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TUBB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macrothrombocytopenia, autosomal dominant, tubb1-related
  • autosomal dominant macrothrombocytopenia tubb1-related
autosomal dominant macrothrombocytopenia
colchicine poisoning
tubulin, beta
myh-9 related disease
  • sebastian syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TUBB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB1_HUMAN
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. {ECO:0000269 PubMed:18849486}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TUBB1: view

No data available for Genatlas for TUBB1 Gene

Publications for TUBB1 Gene

  1. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. (PMID: 15956286) Freson K … Van Geet C (Blood 2005) 3 4 44 58
  2. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. (PMID: 20191564) Leandro-García LJ … Rodríguez-Antona C (Cytoskeleton (Hoboken, N.J.) 2010) 3 4 58
  3. Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders. (PMID: 20532885) Antón AI … Mezzano D (Annals of hematology 2010) 3 44 58
  4. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PMID: 18849486) Kunishima S … Saito H (Blood 2009) 3 4 58
  5. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause. (PMID: 19388931) Martínez C … Rivera J (British journal of haematology 2009) 3 44 58

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