SNAP29
| SNAP29 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| |||||||||||||
| Identifiers | |||||||||||||
| Aliases | SNAP29, CEDNIK, SNAP-29, synaptosome associated protein 29kDa, synaptosome associated protein 29 | ||||||||||||
| External IDs | OMIM: 604202 MGI: 1914724 HomoloGene: 3512 GeneCards: SNAP29 | ||||||||||||
| |||||||||||||
| |||||||||||||
| |||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | |||||||||||||
| Ensembl | |||||||||||||
| UniProt | |||||||||||||
| RefSeq (mRNA) | |||||||||||||
| RefSeq (protein) | |||||||||||||
| Location (UCSC) | Chr 22: 20.86 – 20.89 Mb | Chr 16: 17.22 – 17.25 Mb | |||||||||||
| PubMed search | [3] | [4] | |||||||||||
| Wikidata | |||||||||||||
| |||||||||||||
Synaptosomal-associated protein 29 is a protein that in humans is encoded by the SNAP29 gene.[5][6][7]
Function[]
This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene.[7]
Model organisms[]
Model organisms have been used in the study of SNAP29 function. A conditional knockout mouse line, called Snap29tm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program—a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[10] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals.[10]
Interactions[]
SNAP29 has been shown to interact with Syntaxin 3[5] and EHD1.[18]
See also[]
CEDNIK Syndrome
References[]
- ^ Jump up to: a b c GRCh38: Ensembl release 89: ENSG00000099940 - Ensembl, May 2017
- ^ Jump up to: a b c GRCm38: Ensembl release 89: ENSMUSG00000022765 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Jump up to: a b Steegmaier M, Yang B, Yoo JS, Huang B, Shen M, Yu S, Luo Y, Scheller RH (January 1999). "Three novel proteins of the syntaxin/SNAP-25 family". J Biol Chem. 273 (51): 34171–9. doi:10.1074/jbc.273.51.34171. PMID 9852078.
- ^ Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
- ^ Jump up to: a b "Entrez Gene: SNAP29 synaptosomal-associated protein, 29kDa".
- ^ "Salmonella infection data for Snap29". Wellcome Trust Sanger Institute.
- ^ "Citrobacter infection data for Snap29". Wellcome Trust Sanger Institute.
- ^ Jump up to: a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium".
- ^ "Mouse Genome Informatics".
- ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
- ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
- ^ Rotem-Yehudar R, Galperin E, Horowitz M (August 2001). "Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29". J. Biol. Chem. 276 (35): 33054–60. doi:10.1074/jbc.M009913200. PMID 11423532.
Further reading[]
- Wong SH, Xu Y, Zhang T, Griffiths G, Lowe SL, Subramaniam VN, Seow KT, Hong W (1999). "GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6". Mol. Biol. Cell. 10 (1): 119–34. doi:10.1091/mbc.10.1.119. PMC 25158. PMID 9880331.
- Scales SJ, Chen YA, Yoo BY, Patel SM, Doung YC, Scheller RH (2000). "SNAREs contribute to the specificity of membrane fusion". Neuron. 26 (2): 457–64. doi:10.1016/S0896-6273(00)81177-0. PMID 10839363.
- Rotem-Yehudar R, Galperin E, Horowitz M (2001). "Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29". J. Biol. Chem. 276 (35): 33054–60. doi:10.1074/jbc.M009913200. PMID 11423532.
- Hohenstein AC, Roche PA (2001). "SNAP-29 is a promiscuous syntaxin-binding SNARE". Biochem. Biophys. Res. Commun. 285 (2): 167–71. doi:10.1006/bbrc.2001.5141. PMID 11444821.
- Su Q, Mochida S, Tian JH, Mehta R, Sheng ZH (2002). "SNAP-29: a general SNARE protein that inhibits SNARE disassembly and is implicated in synaptic transmission". Proc. Natl. Acad. Sci. U.S.A. 98 (24): 14038–43. doi:10.1073/pnas.251532398. PMC 61163. PMID 11707603.
- Martinez-Arca S, Rudge R, Vacca M, Raposo G, Camonis J, Proux-Gillardeaux V, Daviet L, Formstecher E, Hamburger A, Filippini F, D'Esposito M, Galli T (2003). "A dual mechanism controlling the localization and function of exocytic v-SNAREs". Proc. Natl. Acad. Sci. U.S.A. 100 (15): 9011–6. Bibcode:2003PNAS..100.9011M. doi:10.1073/pnas.1431910100. PMC 166429. PMID 12853575.
- Xu Y, Shi H, Wei S, Wong SH, Hong W (2005). "Mutually exclusive interactions of EHD1 with GS32 and syndapin II". Mol. Membr. Biol. 21 (4): 269–77. doi:10.1080/09687680410001716871. PMID 15371016. S2CID 22820496.
- Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Pan PY, Cai Q, Lin L, Lu PH, Duan S, Sheng ZH (2005). "SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons". J. Biol. Chem. 280 (27): 25769–79. doi:10.1074/jbc.M502356200. PMC 1864940. PMID 15890653.
- Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, Topaz O, Chefetz I, Keren H, O'brien TJ, Bercovich D, Shalev S, Geiger D, Bergman R, Horowitz M, Mandel H (2005). "A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma". Am. J. Hum. Genet. 77 (2): 242–51. doi:10.1086/432556. PMC 1224527. PMID 15968592.
- Carroll JS, Liu XS, Brodsky AS, Li W, Meyer CA, Szary AJ, Eeckhoute J, Shao W, Hestermann EV, Geistlinger TR, Fox EA, Silver PA, Brown M (2005). "Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1". Cell. 122 (1): 33–43. doi:10.1016/j.cell.2005.05.008. PMID 16009131. S2CID 16841542.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
External links[]
Categories:
- Genes on human chromosome 22
- Genes mutated in mice