Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions N.A.
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000167552 Gene ID 7846 Accession 20766
Symbol TUBA1A Alias LIS3;TUBA3;B-ALPHA-1 Full Name tubulin alpha 1a
Status Confidence Length 4395 bases Strand Minus strand
Position 12 : 49184686 - 49189080 RNA binding domain N.A.
Summary Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
TUBA1A-210 ENST00000679733 1802 188aa ENSP00000505459
TUBA1A-204 ENST00000547939 2007 416aa ENSP00000450268
TUBA1A-208 ENST00000550811 2628 No protein -
TUBA1A-207 ENST00000550767 1777 416aa ENSP00000446637
TUBA1A-209 ENST00000552924 1782 416aa ENSP00000448725
TUBA1A-202 ENST00000301071 1672 451aa ENSP00000301071
TUBA1A-201 ENST00000295766 1887 451aa ENSP00000439020
TUBA1A-203 ENST00000546918 984 231aa ENSP00000446613
TUBA1A-205 ENST00000548363 673 No protein -
TUBA1A-206 ENST00000550254 696 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000226involved_in microtubule cytoskeleton organization1IBAHomo_sapiens(9606)Process
GO:0000278involved_in mitotic cell cycle1IBAHomo_sapiens(9606)Process
GO:0000793located_in condensed chromosome1IEAHomo_sapiens(9606)Component
GO:0001764involved_in neuron migration1IEAHomo_sapiens(9606)Process
GO:0001964involved_in startle response1IEAHomo_sapiens(9606)Process
GO:0005198enables structural molecule activity1TASHomo_sapiens(9606)Function
GO:0005200enables structural constituent of cytoskeleton1IBAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005525enables GTP binding1IBAHomo_sapiens(9606)Function
GO:0005634located_in nucleus1HDAHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm1IBAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1TASHomo_sapiens(9606)Component
GO:0005874is_active_in microtubule3IBA,IDA,TASHomo_sapiens(9606)Component
GO:0005879located_in axonemal microtubule1IDAHomo_sapiens(9606)Component
GO:0005886located_in plasma membrane1IEAHomo_sapiens(9606)Component
GO:0006886involved_in intracellular protein transport1IEAHomo_sapiens(9606)Process
GO:0007017involved_in microtubule-based process1TASHomo_sapiens(9606)Process
GO:0007098involved_in centrosome cycle1IEAHomo_sapiens(9606)Process
GO:0007224involved_in smoothened signaling pathway1IEAHomo_sapiens(9606)Process
GO:0007613involved_in memory1IEAHomo_sapiens(9606)Process
GO:0008344involved_in adult locomotory behavior1IEAHomo_sapiens(9606)Process
GO:0008542involved_in visual learning1IEAHomo_sapiens(9606)Process
GO:0009612involved_in response to mechanical stimulus1IEAHomo_sapiens(9606)Process
GO:0010001involved_in glial cell differentiation1IEAHomo_sapiens(9606)Process
GO:0010467involved_in gene expression1IEAHomo_sapiens(9606)Process
GO:0015630located_in microtubule cytoskeleton1IDAHomo_sapiens(9606)Component
GO:0016787enables hydrolase activity1IEAHomo_sapiens(9606)Function
GO:0021542involved_in dentate gyrus development1IEAHomo_sapiens(9606)Process
GO:0021696involved_in cerebellar cortex morphogenesis1IEAHomo_sapiens(9606)Process
GO:0021987involved_in cerebral cortex development1IEAHomo_sapiens(9606)Process
GO:0030705involved_in cytoskeleton-dependent intracellular transport1TASHomo_sapiens(9606)Process
GO:0031594located_in neuromuscular junction1IEAHomo_sapiens(9606)Component
GO:0034612involved_in response to tumor necrosis factor1IEAHomo_sapiens(9606)Process
GO:0036464located_in cytoplasmic ribonucleoprotein granule1IDAHomo_sapiens(9606)Component
GO:0042802enables identical protein binding1IPIHomo_sapiens(9606)Function
GO:0044877enables protein-containing complex binding1IEAHomo_sapiens(9606)Function
GO:0046785involved_in microtubule polymerization1IEAHomo_sapiens(9606)Process
GO:0046872enables metal ion binding1IEAHomo_sapiens(9606)Function
GO:0046982enables protein heterodimerization activity1IEAHomo_sapiens(9606)Function
GO:0048853involved_in forebrain morphogenesis1IEAHomo_sapiens(9606)Process
GO:0048873involved_in homeostasis of number of cells within a tissue1IEAHomo_sapiens(9606)Process
GO:0050807involved_in regulation of synapse organization1IEAHomo_sapiens(9606)Process
GO:0050808involved_in synapse organization1IEAHomo_sapiens(9606)Process
GO:0051301involved_in cell division1TASHomo_sapiens(9606)Process
GO:0051402involved_in neuron apoptotic process1IEAHomo_sapiens(9606)Process
GO:0055037located_in recycling endosome1IDAHomo_sapiens(9606)Component
GO:0061744involved_in motor behavior1IEAHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0071277involved_in cellular response to calcium ion1IEAHomo_sapiens(9606)Process
GO:0072384involved_in organelle transport along microtubule1IEAHomo_sapiens(9606)Process
GO:0140058involved_in neuron projection arborization1IEAHomo_sapiens(9606)Process
GO:1902065involved_in response to L-glutamate1IEAHomo_sapiens(9606)Process

Expression