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Gene Ontology Classifications
Symbol
Name
ID
Cav3
caveolin 3
MGI:107570

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

GO curators for mouse genes have assigned the following annotations to the gene product of Cav3. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 24, 2012. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]
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 for additional MGI annotations
References
  1. Augustus AS et al. (2008) Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts. Am J Physiol Heart Circ Physiol, 295:H657-66. (PubMed:18552160)
  2. Balijepalli RC et al. (2006) Localization of cardiac L-type Ca(2+) channels to a caveolar macromolecular signaling complex is required for beta(2)-adrenergic regulation. Proc Natl Acad Sci U S A, 103:7500-5. (PubMed:16648270)
  3. Biederer CH et al. (2000) The basic helix-loop-helix transcription factors myogenin and Id2 mediate specific induction of caveolin-3 gene expression during embryonic development J Biol Chem, 275:26245-51. (PubMed:10835421)
  4. Cai C et al. (2009) Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem, 284:15894-902. (PubMed:19380584)
  5. Fecchi K et al. (2006) Spatial and temporal regulation of GLUT4 translocation by flotillin-1 and caveolin-3 in skeletal muscle cells. FASEB J, 20:705-7. (PubMed:16455755)
  6. Folco EJ et al. (2004) Caveolin-3 and SAP97 form a scaffolding protein complex that regulates the voltage-gated potassium channel Kv1.5. Am J Physiol Heart Circ Physiol, 287:H681-90. (PubMed:15277200)
  7. Galbiati F et al. (2001) Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem, 276:21425-33. (PubMed:11259414)
  8. Hagiwara Y et al. (2000) Caveolin-3 deficiency causes muscle degeneration in mice Hum Mol Genet, 9:3047-54. (PubMed:11115849)
  9. Hernandez-Deviez DJ et al. (2006) Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet, 15:129-42. (PubMed:16319126)
  10. Horikawa YT et al. (2008) Caveolin-3 expression and caveolae are required for isoflurane-induced cardiac protection from hypoxia and ischemia/reperfusion injury. J Mol Cell Cardiol, 44:123-30. (PubMed:18054955)
  11. Liu L et al. (2010) Connexin43 interacts with Caveolin-3 in the heart. Mol Biol Rep, 37:1685-91. (PubMed:19544087)
  12. Markandeya YS et al. (2011) Caveolin-3 regulates protein kinase A modulation of the Ca(V)3.2 (alpha1H) T-type Ca2+ channels. J Biol Chem, 286:2433-44. (PubMed:21084288)
  13. Merrick D et al. (2009) Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation. Dis Model Mech, 2:374-88. (PubMed:19535499)
  14. Minamisawa S et al. (2004) Junctophilin type 2 is associated with caveolin-3 and is down-regulated in the hypertrophic and dilated cardiomyopathies. Biochem Biophys Res Commun, 325:852-856. (PubMed:15541368)
  15. Oshikawa J et al. (2004) Insulin resistance in skeletal muscles of caveolin-3-null mice. Proc Natl Acad Sci U S A, 101:12670-5. (PubMed:15314230)
  16. Parton RG et al. (1997) Caveolin-3 associates with developing T-tubules during muscle differentiation. J Cell Biol, 136:137-54. (PubMed:9008709)
  17. Schubert W et al. (2007) Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. Am J Pathol, 170:316-33. (PubMed:17200204)
  18. Smythe GM et al. (2003) A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. J Cell Sci, 116:4739-49. (PubMed:14600260)
  19. Song KS et al. (1996) Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem, 271:15160-5. (PubMed:8663016)
  20. Sotgia F et al. (2009) Loss of caveolin-3 induces a lactogenic microenvironment that is protective against mammary tumor formation. Am J Pathol, 174:613-29. (PubMed:19164602)
  21. Sotgia F et al. (2000) Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. IDENTIFICATION OF A CENTRAL WW-LIKE DOMAIN WITHIN CAVEOLIN FAMILY MEMBERS J Biol Chem, 275:38048-58. (PubMed:10988290)
  22. Stoppani E et al. (2011) Point mutated caveolin-3 form (P104L) impairs myoblast differentiation via Akt and p38 signalling reduction, leading to an immature cell signature. Biochim Biophys Acta, 1812:468-79. (PubMed:21182936)
  23. Sunada Y et al. (2001) Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. Hum Mol Genet, 10:173-8. (PubMed:11159934)
  24. 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)
  25. Trinidad JC et al. (2004) Neuregulin inhibits acetylcholine receptor aggregation in myotubes. J Biol Chem, 279:31622-8. (PubMed:15155732)
  26. Volonte D et al. (2003) Modulation of myoblast fusion by caveolin-3 in dystrophic skeletal muscle cells: implications for Duchenne muscular dystrophy and limb-girdle muscular dystrophy-1C. Mol Biol Cell, 14:4075-88. (PubMed:14517320)
  27. Woodman SE et al. (2002) Caveolin-3 knock-out mice develop a progressive cardiomyopathy and show hyperactivation of the p42/44 MAPK cascade. J Biol Chem, 277:38988-97. (PubMed:12138167)
  28. Ye B et al. (2008) Caveolin-3 Associates with and Affects the Function of Hyperpolarization-Activated Cyclic Nucleotide-Gated Channel 4. Biochemistry, null:null. (PubMed:18956885)



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

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  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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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory