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TUBA1A tubulin, alpha 1a [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001270399 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001270400 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_006009 Homo sapiens tubulin, alpha 1a (TUBA1A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol TUBA1A
Entrez Gene ID 7846
Full Name tubulin, alpha 1a
Synonyms B-ALPHA-1, LIS3, TUBA3
General protein information
Preferred Names
tubulin alpha-1A chain
Names
tubulin alpha-1A chain
hum-a-tub1
hum-a-tub2
tubulin B-alpha-1
tubulin alpha-3 chain
tubulin, alpha, brain-specific
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q13.12

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 blotting 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, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012].
Disorder

MIM: 602529

Lissencephaly 3, 611603 (3)

mRNA Protein Product Sequence Price Select
NM_001270399, 393715090 NP_001257328, 393715091 tubulin alpha-1A chain isoform 1 ORF Sequence $550.00
NM_001270400, 393715094 NP_001257329, 393715095 tubulin alpha-1A chain isoform 2 ORF Sequence $550.00
NM_006009, 393715088 NP_006000, 17986283 tubulin alpha-1A chain isoform 1 ORF Sequence $550.00
KEGG
hsa05130Pathogenic Escherichia coli infection
hsa04540Gap junction
hsa04145Phagosome
WikiPathways
WP2359Parkin-Ubiquitin Proteasomal System pathway
WP2272Pathogenic Escherichia coli infection
Reactome
REACT_152Cell Cycle, Mitotic
REACT_2203G2/M Transition
REACT_15296Recruitment of mitotic centrosome proteins and complexes
REACT_15479Centrosome maturation
REACT_15364Loss of Nlp from mitotic centrosomes
REACT_15451Loss of proteins required for interphase microtubule organization####from the centrosome
REACT_16936Prefoldin mediated transfer of substrate to CCT/TriC
REACT_17015Metabolism of proteins
REACT_16952Protein folding
REACT_17029Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
REACT_16956Formation of tubulin folding intermediates by CCT/TriC
REACT_17004Chaperonin-mediated protein folding
REACT_16967Post-chaperonin tubulin folding pathway
REACT_21391Mitotic G2-G2/M phases
REACT_115566Cell Cycle
REACT_160315Regulation of PLK1 Activity at G2/M Transition
Homo sapiens (human)TUBA1ANP_006000.2
Pan troglodytes (chimpanzee)TUBA1ANP_001092014.1
Macaca mulatta (Rhesus monkey)TUBA1AXP_001108924.2
Canis lupus familiaris (dog)TUBA1AXP_862471.2
Bos taurus (cattle)TUBA1ANP_001159977.1
Mus musculus (house mouse)Tuba1aNP_035783.1
Rattus norvegicus (Norway rat)Tuba1aNP_071634.1
Gallus gallus (chicken)TUBA3EXP_419249.3
Danio rerio (zebrafish)tuba1l2NP_001177911.1
Caenorhabditis eleganstba-5NP_492268.1
Xenopus (Silurana) tropicalis (western clawed frog)tuba1bXP_002935154.1
Process
IDNameEvidence
GO:0000086G2/M transition of mitotic cell cycleTAS
GO:0000278mitotic cell cycleTAS
GO:0006184GTP catabolic processIEA
GO:0006457protein foldingTAS
GO:0007017microtubule-based processTAS
GO:0030705cytoskeleton-dependent intracellular transportTAS
GO:0044267cellular protein metabolic processTAS
GO:0051084'de novo' posttranslational protein foldingTAS
GO:0051258protein polymerizationIEA
GO:0051301cell divisionTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005829cytosolTAS
GO:0005874microtubuleIDA
GO:0005874microtubuleTAS
GO:0005881cytoplasmic microtubuleIEA
GO:0036464cytoplasmic ribonucleoprotein granuleIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0003924GTPase activityIEA
GO:0005198structural molecule activityTAS
GO:0005200structural constituent of cytoskeletonIEA
GO:0005515protein bindingIPI
GO:0005525GTP bindingIEA
GO:0019904protein domain specific bindingIEA
GeneCards TUBA1A
UniProt Q71U36
Vega OTTHUMG00000169511
MIM 602529
Ensembl ENSG00000167552
HGNC 20766
HPRD 03959

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TUBA1A gene?

The TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene. Microtubules are necessary for cell division and movement.

Most cells produce α-tubulin, but the protein is found in highest amounts in the developing brain. During brain development, α-tubulin partners with β-tubulin to form microtubules that move nerve cells (neurons) to their proper location (neuronal migration). Microtubules form scaffolding within the cell. The tubulin proteins that make up the microtubule are moved from one end of a microtubule to the other end. This protein transfer propels the microtubules in a specific direction, moving the cell.

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