TUBB tubulin beta class I [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBBprovided by HGNC
Official Full Name: tubulin beta class Iprovided by HGNC
Primary source: HGNC:HGNC:20778
See related: Ensembl:ENSG00000196230 MIM:191130; AllianceGenome:HGNC:20778
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: M40; TUBB1; TUBB5; CDCBM6; CSCSC1; OK/SW-cl.56
Summary: This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
Annotation information: Note: TUBB1 (Gene ID: 81027) and TUBB (Gene ID: 203068) share the TUBB1 symbol/alias in common. TUBB (GeneID: 203068) also shares the TUBB symbol/alias in common with TUBB2A (Gene ID: 7280). [07 Feb 2019]
Expression: Ubiquitous expression in ovary (RPKM 250.9), bone marrow (RPKM 212.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (30720352..30725422)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (30584554..30589624)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30688129..30693199)

Chromosome 6 - NC_000006.12 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.
Title: Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Title: Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
Title: Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Title: TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
human tumor cells can acquire spontaneous mutations in beta1-tubulin that cause resistance to paclitaxel
Title: Human mutations that confer paclitaxel resistance.
Roles of tubulin beta 1,3 residues Ala428 and Thr429 in microtubule formation in vivo.
Title: Roles of beta-tubulin residues Ala428 and Thr429 in microtubule formation in vivo.
TUBB exon 4 mutations and mismatch repair defects do not play a significant role in paclitaxel/cisplatin resistance
Title: No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.
Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type.
Title: Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Leucine point mutations viz. L215H, L217R, and L225M were reported for paclitaxel resistance in various cancers. In the current study, molecular mechanism of these resistance causing mutations in TUBB1 was explored using molecular docking, molecular dynamics simulation, binding energy estimation, free energy decomposition, principle component analysis and free energy landscape methods.
Title: Molecular dynamics simulation and free energy landscape methods in probing L215H, L217R and L225M βI-tubulin mutations causing paclitaxel resistance in cancer cells.
Data suggest a looser binding of the ligand in tubulin mutants.
Title: Structural basis for drug resistance conferred by β-tubulin mutations: a molecular modeling study on native and mutated tubulin complexes with epothilone B.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Complex cortical dysplasia with other brain malformations 6 MedGen: C4014283 OMIM: 615771 GeneReviews: Tubulinopathies Overview	Compare labs
Multiple benign circumferential skin creases on limbs 1 MedGen: C4551592 OMIM: 156610 GeneReviews: Not available	Compare labs

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
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
Rev	rev	HIV-1 Rev interacting protein, tubulin beta class I, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	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

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

SGC34396 (e-PCR)
- UniSTS:5143

RH78383 (e-PCR)
- UniSTS:89403

G64152 (e-PCR)
- UniSTS:146760

G64144 (e-PCR)
- UniSTS:146761

D6S2041 (e-PCR)
- UniSTS:42134

SGC32809 (e-PCR)
- UniSTS:66491

IB1202 (e-PCR)
- UniSTS:49348

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activating protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	TAS Traceable Author Statement more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	TAS Traceable Author Statement more info
involved_in cytoskeleton-dependent intracellular transport	TAS Traceable Author Statement more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based process	TAS Traceable Author Statement more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell mediated cytotoxicity	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within odontoblast differentiation	IDA Inferred from Direct Assay more info
involved_in regulation of synapse organization	IEA Inferred from Electronic Annotation more info
involved_in spindle assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cell body	IDA Inferred from Direct Assay 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 cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	TAS Traceable Author Statement more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in nuclear envelope lumen	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tubulin beta chain

Names: beta Ib tubulin; epididymis secretory sperm binding protein; tubulin beta-1 chain; tubulin beta-5 chain; tubulin, beta polypeptide

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_034142.1 RefSeqGene

Range

5152..10222

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001293212.2 → NP_001280141.1 tubulin beta chain isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK302314, BC013374, DC353572

UniProtKB/TrEMBL

B4DY90

Related

ENSP00000379672.1, ENST00000396389.5

Conserved Domains (2) summary

PLN00220
Location:39 → 449

PLN00220; tubulin beta chain; Provisional

cd02187
Location:39 → 446

beta_tubulin; The beta-tubulin family
NM_001293213.2 → NP_001280142.1 tubulin beta chain isoform c

See identical proteins and their annotated locations for NP_001280142.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. It initiates translation at an alternate start codon and lacks an in-frame portion of the 3' coding region. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AK297489, BC013374, DC366174

UniProtKB/TrEMBL

B4DMJ5

Conserved Domains (1) summary

PTZ00010
Location:1 → 227

PTZ00010; tubulin beta chain; Provisional
NM_001293214.2 → NP_001280143.1 tubulin beta chain isoform d

See identical proteins and their annotated locations for NP_001280143.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

BC013374, DC366174, DC389555

UniProtKB/TrEMBL

B7ZAK1

Conserved Domains (1) summary

PLN00220
Location:1 → 385

PLN00220; tubulin beta chain; Provisional
NM_001293215.2 → NP_001280144.1 tubulin beta chain isoform e

See identical proteins and their annotated locations for NP_001280144.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (e).

Source sequence(s)

AK298889, BC013374, DC353572

Consensus CDS

CCDS78124.1

UniProtKB/TrEMBL

B7ZAK1, Q5ST81

Related

ENSP00000365578.2, ENST00000330914.7

Conserved Domains (1) summary

PLN00220
Location:1 → 357

PLN00220; tubulin beta chain; Provisional
NM_001293216.2 → NP_001280145.1 tubulin beta chain isoform e

See identical proteins and their annotated locations for NP_001280145.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a. Variants 5 and 6 encode the same isoform (e).

Source sequence(s)

AL662797, BC013374, DC405540

Consensus CDS

CCDS78124.1

UniProtKB/TrEMBL

B7ZAK1, Q5ST81

Related

ENSP00000506665.1, ENST00000681435.1

Conserved Domains (1) summary

PLN00220
Location:1 → 357

PLN00220; tubulin beta chain; Provisional
NM_178014.4 → NP_821133.1 tubulin beta chain isoform b

See identical proteins and their annotated locations for NP_821133.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

BC013374, DC366174

Consensus CDS

CCDS4687.1

UniProtKB/Swiss-Prot

P05218, P07437, Q8WUC1, Q9CY33

UniProtKB/TrEMBL

A0A384NYT8, Q5SU16

Related

ENSP00000339001.7, ENST00000327892.13

Conserved Domains (1) summary

PLN00220
Location:1 → 429

PLN00220; tubulin beta chain; Provisional

RNA

NR_120608.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences at the 5' and 3' ends, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

BC013374, BE245819, DC366174