hyh

Summary

Gene Symbol: hyh
Description: N-ethylmaleimide sensitive fusion protein attachment protein alpha
Alias: 1500039N14Rik, AW209189, RA81, SNAP-alpha, SNAPA, SNARE, a-SNAP, hyh, alpha-soluble NSF attachment protein, N-ethylmaleimide-sensitive factor attachment protein alpha, hydrocephaly with hop gait
Species: mouse
Products:     hyh

Top Publications

  1. Batiz L, Páez P, Jiménez A, Rodriguez S, Wagner C, Pérez Fígares J, et al. Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP. Neurobiol Dis. 2006;23:152-68 pubmed
    The hyh mouse carrying a point mutation in the gene encoding for soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein alpha (alpha-SNAP) develops inherited hydrocephalus...
  2. Hong H, Chakravarti A, Takahashi J. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A. 2004;101:1748-53 pubmed
    The spontaneous autosomal recessive mouse mutant for hydrocephaly with hop gait (hyh) exhibits dramatic cystic dilation of the ventricles at birth and invariably develops hopping gait...
  3. Chae T, Kim S, Marz K, Hanson P, Walsh C. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet. 2004;36:264-70 pubmed
    ..soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein alpha (alpha Snap), involved in SNAP receptor (SNARE)-mediated vesicle fusion in many cellular contexts. A targeted null Napa mutation is embryonically lethal...
  4. Arcos A, Paola M, Gianetti D, Acuña D, Velasquez Z, Miró M, et al. ?-SNAP is expressed in mouse ovarian granulosa cells and plays a key role in folliculogenesis and female fertility. Sci Rep. 2017;7:11765 pubmed publisher
    ..factor (NSF) attachment protein (?-SNAP) is a multifunctional protein that participates in SNARE-mediated membrane fusion events...
  5. Mann M, Latham K, Varmuza S. Identification of genes showing altered expression in preimplantation and early postimplantation parthenogenetic embryos. Dev Genet. 1995;17:223-32 pubmed
    ..In addition, two novel genes expressed in trophoblast were identified, 1661 and RA81. These genes, together with four known imprinted genes, H19, Igf2r, Igf2, and Snrpn, showed evidence of expression ..
  6. Advani R, Bae H, Bock J, Chao D, Doung Y, Prekeris R, et al. Seven novel mammalian SNARE proteins localize to distinct membrane compartments. J Biol Chem. 1998;273:10317-24 pubmed
    Soluble N-ethylmaleimide-sensitive factor-attachment protein receptor (SNARE) proteins of the vesicle-associated membrane protein (VAMP) and syntaxin families play a central role in vesicular trafficking through the formation of ..
  7. Lang J. Molecular mechanisms and regulation of insulin exocytosis as a paradigm of endocrine secretion. Eur J Biochem. 1999;259:3-17 pubmed
    ..Insights into the progression of the exocytotic vesicle from docking to fusion and how these processes are precisely regulated by proteins and second messengers may provide the basis for new therapeutic principles. ..
  8. Batiz L, Roales Buján R, Rodríguez Pérez L, Matas I, Páez P, Roque M, et al. A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype. Mol Cell Probes. 2009;23:281-90 pubmed publisher
    ..The hyh (hydrocephalus with hop gait) mouse carries a missense mutation in Napa gene that results in a point mutation (..
  9. Huynh H, Bottini N, Williams S, Cherepanov V, Musumeci L, Saito K, et al. Control of vesicle fusion by a tyrosine phosphatase. Nat Cell Biol. 2004;6:831-9 pubmed
    ..This represents a novel mechanism for localized regulation of NSF and the first demonstrated role for a protein tyrosine phosphatase in the regulated secretory pathway. ..

More Information

Publications25

  1. Lechuga S, Naydenov N, Feygin A, Jiménez A, Ivanov A. A vesicle trafficking protein αSNAP regulates Paneth cell differentiation in vivo. Biochem Biophys Res Commun. 2017;486:951-957 pubmed publisher
    ..In the present study, we used a mouse with a spontaneous hydrocephalus with hop gait (hyh) mutation of αSNAP to examine the roles of this trafficking protein in regulating intestinal epithelial ..
  2. Wang L, Brautigan D. ?-SNAP inhibits AMPK signaling to reduce mitochondrial biogenesis and dephosphorylates Thr172 in AMPK? in vitro. Nat Commun. 2013;4:1559 pubmed publisher
    ..Here we show that AMPK associates with ?-SNAP, an adapter that enables disassembly of cis-SNARE complexes formed during membrane fusion...
  3. Páez P, Batiz L, Roales Buján R, Rodríguez Pérez L, Rodriguez S, Jiménez A, et al. Patterned neuropathologic events occurring in hyh congenital hydrocephalic mutant mice. J Neuropathol Exp Neurol. 2007;66:1082-92 pubmed
    b>Hyh mutant mice develop long-lasting hydrocephalus and represent a good model for investigating neuropathologic events associated with hydrocephalus...
  4. Hong W. SNAREs and traffic. Biochim Biophys Acta. 2005;1744:120-44 pubmed
    ..The SNARE-mediated process is conserved evolutionally from yeast to human, as well as mechanistically and structurally ..
  5. Gotte M, von Mollard G. A new beat for the SNARE drum. Trends Cell Biol. 1998;8:215-8 pubmed
    ..According to the original SNARE hypothesis, the formation of a complex of an NEM-sensitive fusion protein (NSF), soluble NSF attachment proteins (..
  6. Pérez Fígares J, Jimenez A, Perez Martin M, Fernández Llebrez P, Cifuentes M, Riera P, et al. Spontaneous congenital hydrocephalus in the mutant mouse hyh. Changes in the ventricular system and the subcommissural organ. J Neuropathol Exp Neurol. 1998;57:188-202 pubmed
    ..This organ was investigated in the mutant mouse hyh developing a congenital hydrocephalus...
  7. Bronson R, Lane P. Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse. Brain Res Dev Brain Res. 1990;54:131-6 pubmed
    Hydrocephalus with hop gait (hyh) is a new lethal recessive mouse mutation that arose in the C57BL/10J strain at The Jackson Laboratory. It has been mapped to the proximal end of Chromosome 7 close to the Gpi-1 locus...
  8. Wagner C, Batiz L, Rodriguez S, Jimenez A, Paez P, Tome M, et al. Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus. J Neuropathol Exp Neurol. 2003;62:1019-40 pubmed
    Two phases may be recognized in the development of congenital hydrocephalus in the hyh mutant mouse. During embryonic life the detachment of the ventral ependyma is followed by a moderate hydrocephalus...
  9. Lin S, Bassik M, Suh H, Nishino M, Arroyo J, Hahn W, et al. PP2A regulates BCL-2 phosphorylation and proteasome-mediated degradation at the endoplasmic reticulum. J Biol Chem. 2006;281:23003-12 pubmed
    ..These studies support the hypothesis that PP2A-mediated dephosphorylation of BCL-2 is required to protect BCL-2 from proteasome-dependent degradation, affecting resistance to ER stress. ..
  10. Ferland R, Batiz L, Neal J, Lian G, Bundock E, Lu J, et al. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet. 2009;18:497-516 pubmed publisher
    ..Finally, the hydrocephalus with hop gait (hyh) mouse, which harbors a mutation in Napa [encoding N-ethylmaleimide-sensitive factor attachment protein alpha (..
  11. Jimenez A, Tome M, Paez P, Wagner C, Rodriguez S, Fernández Llebrez P, et al. A programmed ependymal denudation precedes congenital hydrocephalus in the hyh mutant mouse. J Neuropathol Exp Neurol. 2001;60:1105-19 pubmed
    Hydrocephalic hyh mice are born with moderate hydrocephalus and a normal cerebral aqueduct. At about the fifth postnatal day the aqueduct becomes obliterated and severe hydrocephalus develops...
  12. Burgalossi A, Jung S, Meyer G, Jockusch W, Jahn O, Taschenberger H, et al. SNARE protein recycling by ?SNAP and ?SNAP supports synaptic vesicle priming. Neuron. 2010;68:473-87 pubmed publisher
    Neurotransmitter release proceeds by Ca(2+)-triggered, SNARE-complex-dependent synaptic vesicle fusion...
  13. Chae T, Allen K, Davisson M, Sweet H, Walsh C. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome. 2002;13:239-44 pubmed
    Mice that are homozygous for the autosomal recessive hydrocephaly with hop gait (hyh) mutation on Chromosome (Chr) 7 have congenital hydrocephalus characterized by an interhemispheric cyst arising from the third ventricle and agenesis of ..
  14. Batiz L, De Blas G, Michaut M, Ramírez A, Rodríguez F, Ratto M, et al. Sperm from hyh mice carrying a point mutation in alphaSNAP have a defect in acrosome reaction. PLoS ONE. 2009;4:e4963 pubmed publisher
    Hydrocephalus with hop gait (hyh) is a recessive inheritable disease that arose spontaneously in a mouse strain...
  15. Puschel A, O CONNOR V, Betz H. The N-ethylmaleimide-sensitive fusion protein (NSF) is preferentially expressed in the nervous system. FEBS Lett. 1994;347:55-8 pubmed
    ..An identical expression profile was observed for alpha/beta-SNAP. Our data are consistent with a central function of NSF and SNAPs in neurotransmission. ..
  16. Miao Y, Bhushan J, Dani A, Vig M. Na+ influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation. elife. 2017;6: pubmed publisher
    ..Here we show that α-SNAP hypomorph, hydrocephalus with hopping gait, Napahyh/hyh mice harbor significant defects in CD4 T cell gene expression and Foxp3 regulatory T cell (Treg) ..