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MGP003418

Record overview

MGPD IDMGP003418
Gene ID7846
SpeciesHomo sapiens (Human)
Gene Nametubulin, alpha 1a
Gene Symbol TUBA1A
SynonymsLIS3; TUBA3; B-ALPHA-1;
Alternate namestubulin alpha-1A chain; hum-a-tub1; hum-a-tub2; tubulin B-alpha-1; tubulin alpha-3 chain; tubulin, alpha, brain-specific;
Chromosome12
Map Location12q13.12
SummaryMicrotubules 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]
OrthologsView orthologs and multiple alignments for TUBA1A

Proteins

tubulin alpha-1A chain isoform 1
Refseq ID:NP_006000
Protein GI:17986283
UniProt ID:Q71U36
mRNA ID:NM_006009
Length:451
RefSeq Status:
MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAA
NNYARGHYTIGKEIIDLVLDRIRKLADQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDC
AFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
QMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYA
KRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEVGVDSVEGEGEEEGEEY
 
tubulin alpha-1A chain isoform 1
Refseq ID:NP_001257328
Protein GI:393715091
UniProt ID:Q71U36
mRNA ID:NM_001270399
Length:451
RefSeq Status:
Protein sequence is identical to GI:17986283 (mRNA isoform)
 
tubulin alpha-1A chain isoform 2
Refseq ID:NP_001257329
Protein GI:393715095
UniProt ID:Q71U36
mRNA ID:NM_001270400
Length:416
RefSeq Status:
MPSDKTIGGGDDSFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDLVLDRIRKLADQCTGLQGF
LVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTAVVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIV
SSITASLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPANQMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIATI
KTKRTIQFVDWCPTGFKVGINYQPPTVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDMAALEKDYEEV
GVDSVEGEGEEEGEEY
 
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