TUBG1 tubulin gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBG1provided by HGNC
Official Full Name: tubulin gamma 1provided by HGNC
Primary source: HGNC:HGNC:12417
See related: Ensembl:ENSG00000131462 MIM:191135; AllianceGenome:HGNC:12417
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: TUBG; GCP-1; CDCBM4; TUBGCP1
Summary: 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]
Expression: Broad expression in testis (RPKM 90.1), bone marrow (RPKM 18.5) and 23 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q21.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42609683..42615238)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43466828..43472383)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40761701..40767256)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TuBG1 promotes hepatocellular carcinoma via ATR/P53-apoptosis and cycling pathways.
Title: TuBG1 promotes hepatocellular carcinoma via ATR/P53-apoptosis and cycling pathways.
Centrosome Movements Are TUBG1-Dependent.
Title: Centrosome Movements Are TUBG1-Dependent.
Upregulation of TUBG1 expression promotes hepatocellular carcinoma development.
Title: Upregulation of TUBG1 expression promotes hepatocellular carcinoma development.
Microtubule-associated proteins promote microtubule generation in the absence of gamma-tubulin in human colon cancer cells.
Title: Microtubule-associated proteins promote microtubule generation in the absence of γ-tubulin in human colon cancer cells.
Biochemical reconstitutions reveal principles of human gamma-TuRC assembly and function.
Title: Biochemical reconstitutions reveal principles of human γ-TuRC assembly and function.
Gravin-associated kinase signaling networks coordinate gamma-tubulin organization at mitotic spindle poles.
Title: Gravin-associated kinase signaling networks coordinate γ-tubulin organization at mitotic spindle poles.
TACC3 phosphorylation stabilizes gamma- tubulin ring complex assembly and thereby regulates formation of centrosomal asters.
Title: Aurora A site specific TACC3 phosphorylation regulates astral microtubule assembly by stabilizing γ-tubulin ring complex.
Data present two patients with novel de novo tubulin gamma 1 (TUBG1) mutations with milder neurodevelopmental disorders.
Title: Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
Study investigated the consequences of four human malformations of cortical development-related TUBG1 variants by using in utero electroporation and a knock-in Tubg1Y92C/+ mouse model and show that pathogenic TUBG1 variants affect neuronal positioning by disrupting neuronal migration and affecting microtubule dynamics rather than centrosomal positioning or nucleation ability.
Title: TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Our findings suggest that level of gamma-tubulin expression may have an impact on patient survival at more advanced non-small cell lung cancer stages
Title: Expression of γ-tubulin in non-small cell lung cancer and effect on patient survival.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Complex cortical dysplasia with other brain malformations 4 MedGen: C3809420 OMIM: 615412 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
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
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	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
Vpr	vpr	HIV-1 Vpr-expressing HeLa cells stained with centriole markers pericentrin, gamma-tubulin, and Cen2 contain multiple pairs of centrioles scattered in the perinuclear region, indicating Vpr causes the accumulation of multiple centrosome-like structures	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-N92854 (e-PCR)
- UniSTS:51826

WI-18977 (e-PCR)
- UniSTS:52882

SHGC-64290 (e-PCR)
- UniSTS:58837

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

Process	Evidence Code	Pubs
involved_in cytoplasmic microtubule organization	IEA Inferred from Electronic Annotation more info
involved_in meiotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic spindle organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in microtubule nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
located_in centriole	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in condensed nuclear chromosome	ISS Inferred from Sequence or Structural Similarity more info
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 cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic microtubule	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
part_of gamma-tubulin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-tubulin complex	TAS Traceable Author Statement more info	PubMed
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in mitotic spindle microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in pericentriolar material	IEA Inferred from Electronic Annotation more info
located_in polar microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: tubulin gamma-1 chain

Names: gamma-tubulin complex component 1; tubulin, gamma polypeptide

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.