Tubb5 tubulin, beta 5 class I [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tubb5provided by MGI
Official Full Name: tubulin, beta 5 class Iprovided by MGI
Primary source: MGI:MGI:107812
See related: Ensembl:ENSMUSG00000001525 AllianceGenome:MGI:107812
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: M(beta)5; B130022C14Rik
Summary: A structural constituent of cytoskeleton. Involved in regulation of synapse organization. Acts upstream of or within spindle assembly. Located in microtubule and nucleus. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and retina. Used to study microcephaly. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 6 and congenital symmetric circumferential skin creases 1. Orthologous to human TUBB (tubulin beta class I). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 986.8), CNS E14 (RPKM 862.6) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 18.7 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (36144812..36149193, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (35833920..35838301, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of Venlafaxine on the Size of Brain and Expression of SHANK3, TUBB5 and DDC Genes in BALB/c Mice.
Title: Effects of Venlafaxine on the Size of Brain and Expression of SHANK3, TUBB5 and DDC Genes in BALB/c Mice.
Study shows that homozygous TUBB5 knockin animals exhibit a severe reduction in brain size and in body weight. These animals do not show any significant impairment in general activity, anxiety, or in the acoustic startle response, however, present with notable defects in motor coordination.
Title: Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.
This work sheds light on the functional repertoire of Tubb5, reveals that the E401K mutation acts by a complex mechanism, and demonstrates that the cellular pathology driving TUBB5-associated microcephaly is cell death.
Title: Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.
TUBB5 is essential for neuronal differentiation and dendritic spine formation in vivo, providing insight into the underlying cellular pathology associated with TUBB5 disease states.
Title: TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.
results provide insight into the functional repertoire of the tubulin gene family, specifically implicating TUBB5 in embryonic neurogenesis and microcephaly
Title: Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Mutant huntingtin disrupts intracellular transport and insulin secretion by interacting with tubulin beta 5.
Title: Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:267009 (e-PCR)
- UniSTS:267009

Tubb5 (e-PCR), detects polymorphism
- UniSTS:267009

Tubb5 (e-PCR), detects polymorphism
- UniSTS:531461

MARC_24021-24022:1029778648:1 (e-PCR)
- UniSTS:268829

Tubb5 (e-PCR), detects polymorphism
- UniSTS:144707

NoName (e-PCR)
- UniSTS:237641

RH126865 (e-PCR)
- UniSTS:209306

PMC153757P1 (e-PCR)
- UniSTS:271266

AI596182 (e-PCR)
- UniSTS:166056

PMC26660P4 (e-PCR)
- UniSTS:272347

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	NAS Non-traceable Author Statement more info	PubMed
enables GTPase activating protein binding	IEA Inferred from Electronic Annotation more info
enables GTPase activating protein binding	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within microtubule-based process	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule-based process	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in odontoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spindle assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell body	IEA Inferred from Electronic Annotation more info
located_in cell body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic ribonucleoprotein granule	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope lumen	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope lumen	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of tubulin complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: tubulin beta-5 chain

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.