Tuba1a tubulin, alpha 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tuba1aprovided by MGI
Official Full Name: tubulin, alpha 1Aprovided by MGI
Primary source: MGI:MGI:98869
See related: Ensembl:ENSMUSG00000072235 AllianceGenome:MGI:98869
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tuba1; Tuba-1
Summary: Predicted to enable GTP binding activity; identical protein binding activity; and protein domain specific binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in regulation of synapse organization. Located in cytoplasmic microtubule. Is active in neuromuscular junction. Is expressed in several structures, including brain; hemolymphoid system gland; lateral plate mesoderm; liver; and testis. Used to study congenital nervous system abnormality and lissencephaly. Human ortholog(s) of this gene implicated in lissencephaly; lissencephaly 3; microcephaly; and visual epilepsy. Orthologous to human TUBA1A (tubulin alpha 1a). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in whole brain E14.5 (RPKM 4150.7), CNS E18 (RPKM 3651.9) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 55.29 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (98847728..98851382, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (98949847..98953501, complement)

Chromosome 15 - NC_000081.7 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?

TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3.
Title: TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3.
Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
Title: Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
Title: A potential mechanism by which aspiration of duodenogastric fluid augments the risk for bronchiolitis obliterans syndrome after lung transplantation.
TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.
Title: TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics.
alpha-Tubulin acetylation on lysine 40 controls cardiac glucose uptake.
Title: α-Tubulin acetylation on lysine 40 controls cardiac glucose uptake.
Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior.
Title: Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior.
HDAC6-mediated alpha-tubulin deacetylation suppresses autophagy and enhances motility of podocytes in diabetic nephropathy.
Title: HDAC6-mediated α-tubulin deacetylation suppresses autophagy and enhances motility of podocytes in diabetic nephropathy.
A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
Title: A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
Tubulin-specific chaperon E knockdown induces the accumulation of inert alpha-tubulin that cannot form microtubules in the cell body.
Title: Inhibition of microtubule assembly competent tubulin synthesis leads to accumulation of phosphorylated tau in neuronal cell bodies.
Study shows that loss of Tubb2a or Tubb2b does not impair survival but does lead to relatively mild cortical malformation phenotypes. In contrast, loss of Tuba1a is perinatal lethal and leads to significant forebrain dysmorphology. The ability of the mouse to survive in the absence of some tubulin genes known to cause disease in humans suggests future intervention strategies for these devastating tubulinopathy diseases.
Title: Differential requirements of tubulin genes in mammalian forebrain development.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

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

Targeted (1) 1 citation
Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tuba1a (e-PCR), detects polymorphism
- UniSTS:531459

Tuba1 (e-PCR), detects polymorphism
- UniSTS:144701

D22S1042 (e-PCR)
- UniSTS:67652

D5Arb10 (e-PCR)
- UniSTS:240478

RH78682 (e-PCR)
- UniSTS:80224

PMC86714P2 (e-PCR)
- UniSTS:273550

Tuba1a (e-PCR), detects polymorphism
- UniSTS:532393

PMC154451P2 (e-PCR)
- UniSTS:271312

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellar cortex morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in forebrain morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homeostasis of number of cells within a tissue	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotory exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based process	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection arborization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in organelle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyramidal neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in response to L-glutamate	IDA Inferred from Direct Assay more info	PubMed
involved_in response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in startle response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axonemal microtubule	ISO Inferred from Sequence Orthology more info
is_active_in condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	IC Inferred by Curator more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tubulin alpha-1A chain

Names: Talpha1 alpha-tubulin; alpha-tubulin 1; alpha-tubulin isotype M-alpha-1; tubulin alpha-1 chain; tubulin, alpha 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.