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Gene Ontology Classifications
gap junction protein, alpha 1

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gja1. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, May 2014]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Araya R et al. (2005) Expression of connexins during differentiation and regeneration of skeletal muscle: functional relevance of connexin43. J Cell Sci, 118:27-37. (PubMed:15601660)
  2. Bhalla-Gehi R et al. (2010) Pannexin1 and pannexin3 delivery, cell surface dynamics, and cytoskeletal interactions. J Biol Chem, 285:9147-60. (PubMed:20086016)
  3. Butkevich E et al. (2004) Drebrin is a novel connexin-43 binding partner that links gap junctions to the submembrane cytoskeleton. Curr Biol, 14:650-8. (PubMed:15084279)
  4. Chaible LM et al. (2011) Delayed osteoblastic differentiation and bone development in Cx43 knockout mice. Toxicol Pathol, 39:1046-55. (PubMed:21934140)
  5. Crippa S et al. (2011) miR669a and miR669q prevent skeletal muscle differentiation in postnatal cardiac progenitors. J Cell Biol, 193:1197-212. (PubMed:21708977)
  6. Dobrowolski R et al. (2009) Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice. Hum Mol Genet, 18:2899-911. (PubMed:19439426)
  7. Dominguez JN et al. (2008) Tissue distribution and subcellular localization of the cardiac sodium channel during mouse heart development. Cardiovasc Res, 78:45-52. (PubMed:18178574)
  8. Forge A et al. (2003) Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. J Comp Neurol, 467:207-31. (PubMed:14595769)
  9. Fortes FS et al. (2004) Modulation of intercellular communication in macrophages: possible interactions between GAP junctions and P2 receptors. J Cell Sci, 117:4717-26. (PubMed:15331634)
  10. Fushiki S et al. (2003) Changes in neuronal migration in neocortex of connexin43 null mutant mice. J Neuropathol Exp Neurol, 62:304-14. (PubMed:12638734)
  11. Gao Y et al. (1998) Structural changes in lenses of mice lacking the gap junction protein connexin43. Invest Ophthalmol Vis Sci, 39:1198-209. (PubMed:9620080)
  12. Guerrero PA et al. (1997) Slow ventricular conduction in mice heterozygous for a connexin43 null mutation. J Clin Invest, 99:1991-8. (PubMed:9109444)
  13. Gutstein DE et al. (2001) Conduction slowing and sudden arrhythmic death in mice with cardiac-restricted inactivation of connexin43. Circ Res, 88:333-9. (PubMed:11179202)
  14. Iijima Y et al. (2003) Beating is necessary for transdifferentiation of skeletal muscle-derived cells into cardiomyocytes. FASEB J, 17:1361-3. (PubMed:12738802)
  15. Johnson CM et al. (2002) Redistribution of connexin45 in gap junctions of connexin43-deficient hearts. Cardiovasc Res, 53:921-35. (PubMed:11922902)
  16. Kirchhoff S et al. (2000) Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice. Circ Res, 87:399-405. (PubMed:10969038)
  17. Liu L et al. (2010) Connexin43 interacts with Caveolin-3 in the heart. Mol Biol Rep, 37:1685-91. (PubMed:19544087)
  18. Liu S et al. (2006) Distinct cardiac malformations caused by absence of connexin 43 in the neural crest and in the non-crest neural tube. Development, 133:2063-73. (PubMed:16624854)
  19. Lopez-Santiago LF et al. (2007) Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol, 43:636-47. (PubMed:17884088)
  20. Malhotra JD et al. (2004) Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes. J Biol Chem, 279:40748-54. (PubMed:15272007)
  21. Plante I et al. (2010) Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged. Biol Reprod, 82:837-47. (PubMed:20089884)
  22. Simon AM et al. (2004) Heart and head defects in mice lacking pairs of connexins. Dev Biol, 265:369-83. (PubMed:14732399)
  23. Thomas NM et al. (2011) Sex differences in expression and subcellular localization of heart rhythm determinant proteins. Biochem Biophys Res Commun, 406:117-22. (PubMed:21296051)
  24. Vaidya D et al. (2001) Null mutation of connexin43 causes slow propagation of ventricular activation in the late stages of mouse embryonic development. Circ Res, 88:1196-202. (PubMed:11397787)
  25. Watkins M et al. (2011) Osteoblast connexin43 modulates skeletal architecture by regulating both arms of bone remodeling. Mol Biol Cell, 22:1240-51. (PubMed:21346198)
  26. Worsdorfer P et al. (2008) Connexin expression and functional analysis of gap junctional communication in mouse embryonic stem cells. Stem Cells, 26:431-9. (PubMed:18055446)
  27. Ya J et al. (1998) Heart defects in connexin43-deficient mice. Circ Res, 82:360-6. (PubMed:9486664)
  28. Yang G et al. (2003) Analysis of germ cell nuclear factor transcripts and protein expression during spermatogenesis. Biol Reprod, 68:1620-30. (PubMed:12606326)
  29. Yang Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res, 99:646-55. (PubMed:16917092)
  30. Zhang JQ et al. (2001) Ultrastructural and Biochemical Localization of N-RAP at the Interface between Myofibrils and Intercalated Disks in the Mouse Heart. Biochemistry, 40:14898-906. (PubMed:11732910)

Go Annotations in Tabular Form (Text View) (GO Graph)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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