QuickView for TAPT1;jsessionid=8E8467861A29FAD7876B36D2404E7646 (gene)

Gene Symbol:

TAPT1 Homo sapiens

Full name:

transmembrane anterior posterior transformation 1

Synonyms:

CMVFR, OCLSBG, transmembrane anterior posterior transformation protein 1 homolog, cytomegalovirus partial fusion receptor

Genomic Location:

Chr 4: 15771226-15837259

Description:

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of ...

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This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAG_MIR518A2 ,  CREB_Q4_01 ,  FOX_Q2 ,  CTTTGCA_MIR527 ,  TGTGTGA_MIR377 ,  ACTGTGA_MIR27A_MIR27B ,  CREBP1_Q2 ,  TTGGGAG_MIR150 ,  CEBP_01 ,  SP1_Q4_01 ,  GGGCGGR_SP1_Q6 ,  AAGWWRNYGGC_UNKNOWN ,  SP1_Q6 ,  TTGCCAA_MIR182 ,  TTGTTT_FOXO4_01 ,  YY1_02 ,  AAAGGAT_MIR501 ,  CAGCTG_AP4_Q5 ,  TAXCREB_01

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Cytogenetic Map:

4p15.32

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