QuickView for TUBA1A (gene)

Gene Symbol:

TUBA1A Homo sapiens

Full name:

tubulin alpha 1a

Synonyms:

B-ALPHA-1, LIS3, TUBA3, tubulin alpha-1A chain, hum-a-tub1, hum-a-tub2, tubulin B-alpha-1, tubulin alpha-3 chain, tubulin, alpha, brain-specific

Genomic Location:

Chr 12: 47864849-47869128

Description:

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 euka...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Bos taurus ,  Pan troglodytes ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  FOXJ2_02 ,  CATTGTYY_SOX9_B1 ,  E4BP4_01 ,  HP1SITEFACTOR_Q6 ,  STAT6_01 ,  ATGGYGGA_UNKNOWN ,  CEBPB_01 ,  LEF1_Q6 ,  GGGYGTGNY_UNKNOWN ,  YYCATTCAWW_UNKNOWN ,  LFA1_Q6 ,  CCAWYNNGAAR_UNKNOWN ,  GGGCGGR_SP1_Q6 ,  STAT5A_03 ,  RAAGNYNNCTTY_UNKNOWN ,  TGTTTGY_HNF3_Q6 ,  TTGTTT_FOXO4_01 ,  CEBP_C ,  GTCNYYATGR_UNKNOWN ,  YY1_02 ,  CTGCAGY_UNKNOWN ,  CTTTGT_LEF1_Q2 ,  CAGCTG_AP4_Q5 ,  TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497 ,  GGGNNTTTCC_NFKB_Q6_01 ,  LBP1_Q6

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miRNA binding sites
(Source: miRecords):

hsa-miR-30a* Targeted Genes

Cytogenetic Map:

12q13.12

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