QuickView for Gja1 (gene)

Gene Symbol:

GJA1 Homo sapiens

Full name:

gap junction protein alpha 1

Synonyms:

AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA, gap junction alpha-1 protein, connexin-43, gap junction 43 kDa heart protein, gap junction protein, alpha 1, 43kDa

Genomic Location:

Chr 6: 121798444-121812572

Description:

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a c...

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This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTTGTAT_MIR381 ,  RTAAACA_FREAC2_01 ,  TTTGCAC_MIR19A_MIR19B ,  AP1_C ,  TGANTCA_AP1_C ,  MYCMAX_03 ,  CACGTG_MYC_Q2 ,  MAX_01 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  GTACTGT_MIR101 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  AP1_Q6_01 ,  TAATGTG_MIR323 ,  GCTTGAA_MIR498 ,  ACATTCC_MIR1_MIR206 ,  CATGTAA_MIR496 ,  MYCMAX_01 ,  TGCTGAY_UNKNOWN ,  NKX25_02 ,  AAAGACA_MIR511 ,  AATGTGA_MIR23A_MIR23B ,  NMYC_01 ,  AACATTC_MIR4093P ,  CTTTGT_LEF1_Q2 ,  AACTTT_UNKNOWN ,  AP1_Q4_01 ,  AAGCACA_MIR218

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-1 ,  Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-125 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-218 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-30 ,  Predicted Gene Targets for miR-323 ,  Predicted Gene Targets for miR-328 ,  Predicted Gene Targets for miR-342 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-409-3p ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-496

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miRNA binding sites
(Source: miRecords):

hsa-miR-1 Targeted Genes ,  hsa-miR-206 Targeted Genes

Cytogenetic Map:

6q22.31

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