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

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; AllianceGenome:HGNC:16257
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: MACTHC1
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: mouse all
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Genomic context

Location:: 20q13.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (59016438..59026654)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60799451..60809767)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57594484..57601709)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.
Title: ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma.
Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Title: Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Title: Expanding the genetic spectrum of TUBB1-related thrombocytopenia.
Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Title: Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia.
Title: Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia.
Author found that the nuclear accumulation of p53 (also termed TP53) and the expression of pro-apoptotic genes triggered by genotoxic stress were blocked in TUBB1-deficient cells and, accordingly, apoptosis after DNA damage was diminished by knockdown of TUBB1.
Title: TUBB1 dysfunction in inherited thrombocytopenia causes genome instability.
novel mutation is detected in the exon of the TUBB1 gene in children with hypothyroidism and thyroid dysgenesis in Shandong
Title: [TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China].
TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists.
Title: TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
A novel mutation (c.1267C>T nonsense mutation (p.Q423*)) located in the C-terminal part of the beta1-tubulin protein is reported, confirming that this domain plays a key role in microtubule assembly.
Title: A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.
Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion.
Title: Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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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
Macrothrombocytopenia, isolated, 1, autosomal dominant MedGen: C5676892 OMIM: 613112 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_24019-24020:1029775248:1 (e-PCR)
- UniSTS:268828

STS-H96735 (e-PCR)
- UniSTS:39717

RH17503 (e-PCR)
- UniSTS:75847

SHGC-33555 (e-PCR)
- UniSTS:76943

SGC33843 (e-PCR)
- UniSTS:79560

STS-T99531 (e-PCR)
- UniSTS:74453

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule polymerization	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet aggregation	IEA Inferred from Electronic Annotation more info
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in spindle assembly	IEA Inferred from Electronic Annotation more info
involved_in thyroid gland development	IEA Inferred from Electronic Annotation more info
involved_in thyroid hormone transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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 extracellular exosome	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info

General protein information

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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

NG_023424.2 RefSeqGene

Range

5001..12401

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_581

mRNA and Protein(s)

NM_030773.4 → NP_110400.1 tubulin beta-1 chain

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:1 → 428

PTZ00010; tubulin beta chain; Provisional