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Genetics Home Reference: your guide to understanding genetic conditions
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SNCAIP

Reviewed July 2007

What is the official name of the SNCAIP gene?

The official name of this gene is “synuclein, alpha interacting protein.”

SNCAIP is the gene's official symbol. The SNCAIP gene is also known by other names, listed below.

What is the normal function of the SNCAIP gene?

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.

Does the SNCAIP gene share characteristics with other genes?

The SNCAIP gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

Where is the SNCAIP gene located?

Cytogenetic Location: 5q23.2

Molecular Location on chromosome 5: base pairs 122,311,557 to 122,464,098

The SNCAIP gene is located on the long (q) arm of chromosome 5 at position 23.2.

The SNCAIP gene is located on the long (q) arm of chromosome 5 at position 23.2.

More precisely, the SNCAIP gene is located from base pair 122,311,557 to base pair 122,464,098 on chromosome 5.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SNCAIP?

You and your healthcare professional may find the following resources about SNCAIP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SNCAIP gene or gene products?

  • SNCAP_HUMAN
  • synphilin 1
  • synuclein, alpha interacting protein (synphilin)
  • SYPH1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SNCAIP?

gene ; presynaptic ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat Med. 2001 Oct;7(10):1144-50. (http://www.ncbi.nlm.nih.gov/pubmed/11590439?dopt=Abstract)
  • Eyal A, Szargel R, Avraham E, Liani E, Haskin J, Rott R, Engelender S. Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients. Proc Natl Acad Sci U S A. 2006 Apr 11;103(15):5917-22. Epub 2006 Apr 4. (http://www.ncbi.nlm.nih.gov/pubmed/16595633?dopt=Abstract)
  • Krüger R. The role of synphilin-1 in synaptic function and protein degradation. Cell Tissue Res. 2004 Oct;318(1):195-9. Epub 2004 Aug 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15322916?dopt=Abstract)
  • Lee G, Junn E, Tanaka M, Kim YM, Mouradian MM. Synphilin-1 degradation by the ubiquitin-proteasome pathway and effects on cell survival. J Neurochem. 2002 Oct;83(2):346-52. (http://www.ncbi.nlm.nih.gov/pubmed/12423244?dopt=Abstract)
  • Lim KL, Dawson VL, Dawson TM. The cast of molecular characters in Parkinson's disease: felons, conspirators, and suspects. Ann N Y Acad Sci. 2003 Jun;991:80-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12846976?dopt=Abstract)
  • 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, Schöls L, Schulz JB, Riess O, Krüger R. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet. 2003 Jun 1;12(11):1223-31. (http://www.ncbi.nlm.nih.gov/pubmed/12761037?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9627)
  • Pankratz N, Foroud T. Genetics of Parkinson disease. NeuroRx. 2004 Apr;1(2):235-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15717024?dopt=Abstract)
  • OMIM: SYNUCLEIN-ALPHA-INTERACTING PROTEIN (http://omim.org/entry/603779)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2007
Published: October 20, 2014