This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [prov... See more...

Aliases for TUBG1 Gene

Aliases for TUBG1 Gene

  • Tubulin Gamma 1 2 3 5
  • Gamma-Tubulin Complex Component 1 3 4
  • Tubulin, Gamma Polypeptide 2 3
  • Tubulin Gamma-1 Chain 3 4
  • GCP-1 3 4
  • TUBG 3 4
  • Tubulin, Gamma 1 2
  • Gamma-1-Tubulin 4
  • TUBGCP1 3
  • CDCBM4 3

External Ids for TUBG1 Gene

Previous HGNC Symbols for TUBG1 Gene

  • TUBG

Previous GeneCards Identifiers for TUBG1 Gene

  • GC17P040369
  • GC17P042949
  • GC17P040670
  • GC17P041134
  • GC17P038015
  • GC17P040761
  • GC17P036525

Summaries for TUBG1 Gene

Entrez Gene Summary for TUBG1 Gene

  • This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]

GeneCards Summary for TUBG1 Gene

TUBG1 (Tubulin Gamma 1) is a Protein Coding gene. Diseases associated with TUBG1 include Cortical Dysplasia, Complex, With Other Brain Malformations 4 and Band Heterotopia. Among its related pathways are ERK Signaling and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBG2.

UniProtKB/Swiss-Prot Summary for TUBG1 Gene

  • Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation.

Tocris Summary for TUBG1 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 (+).

Additional gene information for TUBG1 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBG1 Gene

Genomics for TUBG1 Gene

GeneHancer (GH) Regulatory Elements for TUBG1 Gene

Promoters and enhancers for TUBG1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBG1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBG1

Top Transcription factor binding sites by QIAGEN in the TUBG1 gene promoter:
  • AML1a
  • COMP1
  • GATA-1
  • ITF-2
  • NF-1
  • NF-1/L
  • Tal-1beta
  • Zic1
  • ZIC2

Genomic Locations for TUBG1 Gene

Genomic Locations for TUBG1 Gene
chr17:42,609,340-42,615,238
(GRCh38/hg38)
Size:
5,899 bases
Orientation:
Plus strand
chr17:40,761,358-40,767,256
(GRCh37/hg19)
Size:
5,899 bases
Orientation:
Plus strand

Genomic View for TUBG1 Gene

Genes around TUBG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBG1 Gene

Proteins for TUBG1 Gene

  • Protein details for TUBG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23258-TBG1_HUMAN
    Recommended name:
    Tubulin gamma-1 chain
    Protein Accession:
    P23258
    Secondary Accessions:
    • Q53X79
    • Q9BW59

    Protein attributes for TUBG1 Gene

    Size:
    451 amino acids
    Molecular mass:
    51170 Da
    Quaternary structure:
    • Interacts with TUBGCP2 and TUBGCP3 (PubMed:9566969, PubMed:9566969). Interacts with B9D2 (By similarity). Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of TUBG1 and CDK5RAP2 (PubMed:17959831). Interacts with PIFO (PubMed:20643351). Interacts with SAS6 and NUP62 at the centrosome (PubMed:24107630).

    Three dimensional structures from OCA and Proteopedia for TUBG1 Gene

neXtProt entry for TUBG1 Gene

Post-translational modifications for TUBG1 Gene

  • Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBG1 Gene

No data available for DME Specific Peptides for TUBG1 Gene

Domains & Families for TUBG1 Gene

Gene Families for TUBG1 Gene

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

Suggested Antigen Peptide Sequences for TUBG1 Gene

GenScript: Design optimal peptide antigens:
  • Gamma-tubulin complex component 1 (TBG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23258

UniProtKB/Swiss-Prot:

TBG1_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBG1: view

Function for TUBG1 Gene

Molecular function for TUBG1 Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation.
GENATLAS Biochemistry:
tubulin,gamma polypeptide,universal component of microtubule organizing center,associated with centrosome (nb

Phenotypes From GWAS Catalog for TUBG1 Gene

Gene Ontology (GO) - Molecular Function for TUBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IBA,TAS 21873635
GO:0005515 protein binding IPI 9566969
GO:0005525 GTP binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with TUBG1: view
genes like me logo Genes that share phenotypes with TUBG1: view

Human Phenotype Ontology for TUBG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TUBG1 Gene

MGI Knock Outs for TUBG1:

Animal Model Products

Clone Products

  • Addgene plasmids for TUBG1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TUBG1 Gene

Localization for TUBG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBG1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

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 TUBG1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
endosome 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TUBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IEA --
GO:0000794 condensed nuclear chromosome IEA,ISS --
GO:0000930 gamma-tubulin complex IEA,TAS 9566969
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA,ISS --
genes like me logo Genes that share ontologies with TUBG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TUBG1 Gene

Pathways & Interactions for TUBG1 Gene

genes like me logo Genes that share pathways with TUBG1: view

Pathways by source for TUBG1 Gene

2 GeneGo (Thomson Reuters) pathways for TUBG1 Gene
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
9 Qiagen pathways for TUBG1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Hedgehog Signaling in Mammals
1 Cell Signaling Technology pathway for TUBG1 Gene

SIGNOR curated interactions for TUBG1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IBA 21873635
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000212 meiotic spindle organization IBA,ISS --
GO:0000226 microtubule cytoskeleton organization TAS,IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
genes like me logo Genes that share ontologies with TUBG1: view

Drugs & Compounds for TUBG1 Gene

(11) Drugs for TUBG1 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vinblastine Approved Pharma Target, adduct 216
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
MPC 6827 hydrochloride Pharma Potent microtubule inhibitor, Inhibitor of microtubule polymerization; antimitotic and antitumor 0
Vinblastine sulfate Pharma Anti-mitotic agent, Disrupts microtubules 0

(9) Additional Compounds for TUBG1 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
Agonist 33069-62-4

(5) Tocris Compounds for TUBG1 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
genes like me logo Genes that share compounds with TUBG1: view

Transcripts for TUBG1 Gene

mRNA/cDNA for TUBG1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for TUBG1

Alternative Splicing Database (ASD) splice patterns (SP) for TUBG1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1: -
SP2: -
SP3:
SP4: - -
SP5: - - -
SP6: -

Relevant External Links for TUBG1 Gene

GeneLoc Exon Structure for
TUBG1

Expression for TUBG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBG1 Gene

mRNA differential expression in normal tissues according to GTEx for TUBG1 Gene

This gene is overexpressed in Testis (x6.4).

Protein differential expression in normal tissues from HIPED for TUBG1 Gene

This gene is overexpressed in Breast (34.7) and Bone (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBG1 Gene



Protein tissue co-expression partners for TUBG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBG1

SOURCE GeneReport for Unigene cluster for TUBG1 Gene:

Hs.279669

Evidence on tissue expression from TISSUES for TUBG1 Gene

  • Skin(4.3)
  • Nervous system(4.2)
  • Lung(2.7)
  • Kidney(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBG1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
genes like me logo Genes that share expression patterns with TUBG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TUBG1 Gene

Orthologs for TUBG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBG1 31 30
  • 99.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBG1 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBG1 31 30
  • 94.01 (n)
ManyToMany
dog
(Canis familiaris)
Mammalia TUBG1 30
  • 93.87 (n)
mouse
(Mus musculus)
Mammalia Tubg1 17 31 30
  • 92.76 (n)
rat
(Rattus norvegicus)
Mammalia Tubg1 30
  • 92.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 98 (a)
OneToMany
TUBG1 30
  • 85.21 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 33 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tubg1 30
  • 80.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5871 30
zebrafish
(Danio rerio)
Actinopterygii tubg1 31 30
  • 83.3 (n)
OneToMany
zgc55894 30
fruit fly
(Drosophila melanogaster)
Insecta gammaTub23C 31 32
  • 75 (a)
ManyToMany
gammaTub37C 31 32 30
  • 71.45 (n)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tbg-1 32
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB4 33 31
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GCP2 30
  • 65.41 (n)
rice
(Oryza sativa)
Liliopsida Os05g0156600 30
  • 67.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 83 (a)
OneToMany
Cin.9986 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03954 30
  • 66.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gtb1 30
  • 61.85 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9986 30
Species where no ortholog for TUBG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBG1 Gene

ENSEMBL:
Gene Tree for TUBG1 (if available)
TreeFam:
Gene Tree for TUBG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBG1: view image

Paralogs for TUBG1 Gene

(28) SIMAP similar genes for TUBG1 Gene using alignment to 3 proteins:

  • TBG1_HUMAN
  • K7EIS0_HUMAN
  • K7EKE5_HUMAN

Pseudogenes.org Pseudogenes for TUBG1 Gene

genes like me logo Genes that share paralogs with TUBG1: view

Variants for TUBG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBG1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
672681 Benign: not provided 42,609,335(+) C/A NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
674438 Benign: not provided 42,612,391(+) A/G INTRON_VARIANT
676974 Benign: not provided 42,610,705(+) C/G INTRON_VARIANT
676975 Benign: not provided 42,612,177(+) A/G INTRON_VARIANT
681765 Benign/Likely Benign: not provided 42,612,941(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TUBG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TUBG1 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv960107 CNV duplication 23825009

Variation tolerance for TUBG1 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBG1 Gene

Human Gene Mutation Database (HGMD)
TUBG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBG1 Gene

Disorders for TUBG1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TUBG1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 4
  • cdcbm4
band heterotopia
  • bh
tubulinopathies
  • tubulin-related cortical dysgenesis
reducing body myopathy
  • myopathy, reducing body
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search TUBG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBG1_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. {ECO:0000269 PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBG1

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 TUBG1: view

No data available for Genatlas for TUBG1 Gene

Publications for TUBG1 Gene

  1. Gamma-tubulin is present in Drosophila melanogaster and Homo sapiens and is associated with the centrosome. (PMID: 1904010) Zheng Y … Oakley BR (Cell 1991) 2 3 4 23 54
  2. Characterization of the human homologue of the yeast spc98p and its association with gamma-tubulin. (PMID: 9566969) Tassin AM … Bornens M (The Journal of cell biology 1998) 3 4 23 54
  3. Nucleoporin Nup62 maintains centrosome homeostasis. (PMID: 24107630) Hashizume C … Wong RW (Cell cycle (Georgetown, Tex.) 2013) 3 4 54
  4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PMID: 20508983) Olson JE … Couch FJ (Breast cancer research and treatment 2011) 3 41 54
  5. A direct interaction with NEDD1 regulates gamma-tubulin recruitment to the centrosome. (PMID: 20224777) Manning JA … Kumar S (PloS one 2010) 3 23 54

Products for TUBG1 Gene