QuickView for BPAG1 (gene)

Gene Symbol:

DST Homo sapiens

Full name:

dystonin

Synonyms:

BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2, dystonin, bullous pemphigoid antigen 1, dystonia musculorum protein, hemidesmosomal plaque protein, trabeculin-beta

Genomic Location:

Chr 6: 56430744-56816422

Description:

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue...

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This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MYOD_Q6_01 ,  RTAAACA_FREAC2_01 ,  PR_02 ,  MYOD_01 ,  P53_DECAMER_Q2 ,  FOXO4_01 ,  GCANCTGNY_MYOD_Q6 ,  NKX22_01 ,  CTAWWWATA_RSRFC4_Q2 ,  GGGAGGRR_MAZ_Q6 ,  AR_Q6 ,  GTGACGY_E4F1_Q6 ,  CEBP_01 ,  CAGGTG_E12_Q6 ,  ATACCTC_MIR202 ,  PITX2_Q2 ,  TGCCAAR_NF1_Q6 ,  AREB6_03 ,  TTGTTT_FOXO4_01 ,  GR_01 ,  TCCATTKW_UNKNOWN ,  CTTTGT_LEF1_Q2 ,  ZF5_B ,  ACCTGTTG_UNKNOWN

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-134 ,  Predicted Gene Targets for miR-142-3p ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-539 ,  Predicted Gene Targets for miR-496

Cytogenetic Map:

6p12.1

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