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Wikipedia

SNCAIP

Synphilin-1 is a protein that in humans is encoded by the SNCAIP gene. SNCAIP stands for "synuclein, alpha interacting protein" and can be signified by SNCAP_HUMAN, synphilin 1, synuclein, alpha interacting protein (synphilin), and SYPH1.

SNCAIP
Available structures
PDBOrtholog search:PDBe RCSB
List of PDB id codes

2KES

Identifiers
AliasesSNCAIP, SYPH1, Sph1, synuclein alpha interacting protein
External IDsOMIM: 603779 MGI: 1915097 HomoloGene: 3987 GeneCards: SNCAIP
Gene location (Human)
Chr.Chromosome 5 (human)
Band5q23.2Start122,311,354 bp
End122,464,219 bp
Gene location (Mouse)
Chr.Chromosome 18 (mouse)
Band18|18 D1Start52,767,709 bp
End52,915,935 bp
RNA expression pattern
Bgee
Top expressed in
  • prosencephalon
  • ovary
  • endometrium
  • cervix epithelium
  • cerebral cortex
  • Germinal epithelium
  • female reproductive system
More reference expression data
BioGPS
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 5: 122.31 – 122.46 MbChr 18: 52.77 – 52.92 Mb
PubMed search
Wikidata

Contents

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but their full-length nature has yet to be determined.

The SNCAIP gene provides instructions for making a protein called synphilin-1 and a slightly different version of this protein called synphilin-1A. These proteins are produced in the brain. They are usually located in specialized structures called presynaptic terminals, found at the tips of nerve cells. In nerve cells, synphilin-1 and synphilin-1A interact with another protein called alpha-synuclein. The functions of synphilin-1 and synphilin-1A, however, are unknown.

SNCAIP has been shown to interact with:

  1. GRCh38: Ensembl release 89: ENSG00000064692 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024534 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA (May 1999). "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions". Nat Genet. 22 (1): 110–4. doi:10.1038/8820. PMID 10319874. S2CID 2611127.
  6. "Entrez Gene: SNCAIP synuclein, alpha interacting protein (synphilin)".
  7. Neystat M, Rzhetskaya M, Kholodilov N, Burke RE (June 2002). "Analysis of synphilin-1 and synuclein interactions by yeast two-hybrid beta-galactosidase liquid assay". Neurosci. Lett. 325 (2): 119–23. doi:10.1016/s0304-3940(02)00253-7. PMID 12044636. S2CID 11517781.
  8. Nagano Y, Yamashita H, Nakamura T, Takahashi T, Kondo E, Nakamura S (Dec 2001). "Lack of binding observed between human alpha-synuclein and Bcl-2 protein family". Neurosci. Lett. 316 (2): 103–7. doi:10.1016/s0304-3940(01)02330-8. PMID 11742726. S2CID 54363210.
  9. Kawamata H, McLean PJ, Sharma N, Hyman BT (May 2001). "Interaction of alpha-synuclein and synphilin-1: effect of Parkinson's disease-associated mutations". J. Neurochem. 77 (3): 929–34. doi:10.1046/j.1471-4159.2001.00301.x. PMID 11331421. S2CID 83885937.
  10. Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM (October 2001). "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease". Nat. Med. 7 (10): 1144–50. doi:10.1038/nm1001-1144. PMID 11590439. S2CID 12487644.


SNCAIP
SNCAIP Language Watch Edit Synphilin 1 is a protein that in humans is encoded by the SNCAIP gene 5 6 SNCAIP stands for synuclein alpha interacting protein and can be signified by SNCAP HUMAN synphilin 1 synuclein alpha interacting protein synphilin and SYPH1 SNCAIPAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2KESIdentifiersAliasesSNCAIP SYPH1 Sph1 synuclein alpha interacting proteinExternal IDsOMIM 603779 MGI 1915097 HomoloGene 3987 GeneCards SNCAIPGene location Human Chr Chromosome 5 human 1 Band5q23 2Start122 311 354 bp 1 End122 464 219 bp 1 Gene location Mouse Chr Chromosome 18 mouse 2 Band18 18 D1Start52 767 709 bp 2 End52 915 935 bp 2 RNA expression patternBgeeTop expressed inprosencephalon ovary endometrium cervix epithelium cerebral cortex Germinal epithelium female reproductive systemMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionGO 0001948 protein binding ubiquitin protein ligase binding identical protein bindingCellular componentcytoplasm cytosol neuronal cell body presynaptic membrane synaptic vesicle nucleoplasm cytoplasmic ribonucleoprotein granuleBiological processcellular protein metabolic process regulation of inclusion body assembly dopamine metabolic process cell death regulation of neurotransmitter secretionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez962767847EnsemblENSG00000064692ENSMUSG00000024534UniProtQ9Y6H5Q99ME3RefSeq mRNA NM 001242935 NM 001308100 NM 001308105 NM 001308106 NM 001308107NM 001308108 NM 001308109 NM 005460NM 001199151 NM 001199153 NM 001199154 NM 026408RefSeq protein NP 001229864 NP 001295029 NP 001295034 NP 001295035 NP 001295036NP 001295037 NP 001295038 NP 005451NP 001186080 NP 001186082 NP 001186083 NP 080684Location UCSC Chr 5 122 31 122 46 MbChr 18 52 77 52 92 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further readingFunction EditThis gene encodes a protein containing several protein protein interaction domains including ankyrin like repeats a coiled coil domain and an ATP GTP binding motif The encoded protein interacts with alpha synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration A mutation in this gene has been associated with Parkinson s disease Alternatively spliced transcript variants encoding different isoforms of this gene have been described but their full length nature has yet to be determined 6 The SNCAIP gene provides instructions for making a protein called synphilin 1 and a slightly different version of this protein called synphilin 1A These proteins are produced in the brain They are usually located in specialized structures called presynaptic terminals found at the tips of nerve cells In nerve cells synphilin 1 and synphilin 1A interact with another protein called alpha synuclein The functions of synphilin 1 and synphilin 1A however are unknown Interactions EditSNCAIP has been shown to interact with Alpha synuclein 5 7 8 9 and Parkin ligase 10 References Edit a b c GRCh38 Ensembl release 89 ENSG00000064692 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000024534 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 a b Engelender S Kaminsky Z Guo X Sharp AH Amaravi RK Kleiderlein JJ Margolis RL Troncoso JC Lanahan AA Worley PF Dawson VL Dawson TM Ross CA May 1999 Synphilin 1 associates with alpha synuclein and promotes the formation of cytosolic inclusions Nat Genet 22 1 110 4 doi 10 1038 8820 PMID 10319874 S2CID 2611127 a b Entrez Gene SNCAIP synuclein alpha interacting protein synphilin Neystat M Rzhetskaya M Kholodilov N Burke RE June 2002 Analysis of synphilin 1 and synuclein interactions by yeast two hybrid beta galactosidase liquid assay Neurosci Lett 325 2 119 23 doi 10 1016 s0304 3940 02 00253 7 PMID 12044636 S2CID 11517781 Nagano Y Yamashita H Nakamura T Takahashi T Kondo E Nakamura S Dec 2001 Lack of binding observed between human alpha synuclein and Bcl 2 protein family Neurosci Lett 316 2 103 7 doi 10 1016 s0304 3940 01 02330 8 PMID 11742726 S2CID 54363210 Kawamata H McLean PJ Sharma N Hyman BT May 2001 Interaction of alpha synuclein and synphilin 1 effect of Parkinson s disease associated mutations J Neurochem 77 3 929 34 doi 10 1046 j 1471 4159 2001 00301 x PMID 11331421 S2CID 83885937 Chung KK Zhang Y Lim KL Tanaka Y Huang H Gao J Ross CA Dawson VL Dawson TM October 2001 Parkin ubiquitinates the alpha synuclein interacting protein synphilin 1 implications for Lewy body formation in Parkinson disease Nat Med 7 10 1144 50 doi 10 1038 nm1001 1144 PMID 11590439 S2CID 12487644 Further reading EditKruger R 2005 The role of synphilin 1 in synaptic function and protein degradation Cell Tissue Res 318 1 195 9 doi 10 1007 s00441 004 0953 z PMID 15322916 S2CID 12186058 Engelender S Wanner T Kleiderlein JJ Wakabayashi K Tsuji S Takahashi H Ashworth R Margolis RL Ross CA 2000 Organization of the human synphilin 1 gene a candidate for Parkinson s disease Mamm Genome 11 9 763 6 doi 10 1007 s003350010123 PMID 10967135 S2CID 22420090 Kawamata H McLean PJ Sharma N Hyman BT 2001 Interaction of alpha synuclein and synphilin 1 effect of Parkinson s disease associated mutations J Neurochem 77 3 929 34 doi 10 1046 j 1471 4159 2001 00301 x PMID 11331421 S2CID 83885937 Chung KK Zhang Y Lim KL Tanaka Y Huang H Gao J Ross CA Dawson VL Dawson TM 2001 Parkin ubiquitinates the alpha synuclein interacting protein synphilin 1 implications for Lewy body formation in Parkinson disease Nat Med 7 10 1144 50 doi 10 1038 nm1001 1144 PMID 11590439 S2CID 12487644 Ribeiro CS Carneiro K Ross CA Menezes JR Engelender S 2002 Synphilin 1 is developmentally localized to synaptic terminals and its association with synaptic vesicles is modulated by alpha synuclein J Biol Chem 277 26 23927 33 doi 10 1074 jbc M201115200 PMID 11956199 O Farrell C Pickford F Vink L McGowan E Cookson MR 2002 Sequence conservation between mouse and human synphilin 1 Neurosci Lett 322 1 9 12 doi 10 1016 S0304 3940 02 00068 X PMID 11958831 S2CID 9654263 Neystat M Rzhetskaya M Kholodilov N Burke RE 2002 Analysis of synphilin 1 and synuclein interactions by yeast two hybrid beta galactosidase liquid assay Neurosci Lett 325 2 119 23 doi 10 1016 S0304 3940 02 00253 7 PMID 12044636 S2CID 11517781 Junn E Lee SS Suhr UT Mouradian MM 2003 Parkin accumulation in aggresomes due to proteasome impairment J Biol Chem 277 49 47870 7 doi 10 1074 jbc M203159200 PMID 12364339 Ihara M Tomimoto H Kitayama H Morioka Y Akiguchi I Shibasaki H Noda M Kinoshita M 2003 Association of the cytoskeletal GTP binding protein Sept4 H5 with cytoplasmic inclusions found in Parkinson s disease and other synucleinopathies J Biol Chem 278 26 24095 102 doi 10 1074 jbc M301352200 PMID 12695511 Ito T Niwa J Hishikawa N Ishigaki S Doyu M Sobue G 2003 Dorfin localizes to Lewy bodies and ubiquitylates synphilin 1 J Biol Chem 278 31 29106 14 doi 10 1074 jbc M302763200 PMID 12750386 Marx FP Holzmann C Strauss KM Li L Eberhardt O Gerhardt E Cookson MR Hernandez D Farrer MJ Kachergus J Engelender S Ross CA Berger K Schols L Schulz JB Riess O Kruger R 2004 Identification and functional characterization of a novel R621C mutation in the synphilin 1 gene in Parkinson s disease Hum Mol Genet 12 11 1223 31 doi 10 1093 hmg ddg134 PMID 12761037 Scherzer CR Jensen RV Gullans SR Feany MB 2004 Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson s disease Hum Mol Genet 12 19 2457 66 doi 10 1093 hmg ddg265 PMID 12915459 Nagano Y Yamashita H Takahashi T Kishida S Nakamura T Iseki E Hattori N Mizuno Y Kikuchi A Matsumoto M 2004 Siah 1 facilitates ubiquitination and degradation of synphilin 1 J Biol Chem 278 51 51504 14 doi 10 1074 jbc M306347200 PMID 14506261 Tanaka M Kim YM Lee G Junn E Iwatsubo T Mouradian MM 2004 Aggresomes formed by alpha synuclein and synphilin 1 are cytoprotective J Biol Chem 279 6 4625 31 doi 10 1074 jbc M310994200 PMID 14627698 Lee G Tanaka M Park K Lee SS Kim YM Junn E Lee SH Mouradian MM 2004 Casein kinase II mediated phosphorylation regulates alpha synuclein synphilin 1 interaction and inclusion body formation J Biol Chem 279 8 6834 9 doi 10 1074 jbc M312760200 PMID 14645218 Chung KK Thomas B Li X Pletnikova O Troncoso JC Marsh L Dawson VL Dawson TM 2004 S nitrosylation of parkin regulates ubiquitination and compromises parkin s protective function Science 304 5675 1328 31 doi 10 1126 science 1093891 PMID 15105460 S2CID 86854030 This article on a gene on human chromosome 5 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SNCAIP amp oldid 997657596, wikipedia, wiki, book,

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