[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Mammary cancer;
PubMed=9044857 [NCBI, ExPASy, EBI, Israel, Japan]
Ji H.,
Liu Y.E.,
Jia T.,
Wang M.,
Liu J.,
Xiao G.,
Joseph B.K.,
Rosen C.,
Shi Y.E.;
"Identification of a breast cancer-specific gene, BCSG1, by direct differential cDNA sequencing.";
Cancer Res. 57:759-764(1997).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
DOI=10.1093/hmg/7.9.1417; PubMed=9700196 [NCBI, ExPASy, EBI, Israel, Japan]
Ninkina N.N.,
Alimova-Kost M.V.,
Paterson J.W.E.,
Delaney L.,
Cohen B.B.,
Imreh S.,
Gnuchev N.V.,
Davies A.M.,
Buchman V.L.;
"Organization, expression and polymorphism of the human persyn gene.";
Hum. Mol. Genet. 7:1417-1424(1998).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-110.
DOI=10.1007/s004390050792; PubMed=9737786 [NCBI, ExPASy, EBI, Israel, Japan]
Lavedan C.,
Leroy E.,
Dehejia A.,
Buchholtz S.,
Dutra A.,
Nussbaum R.L.,
Polymeropoulos M.H.;
"Identification, localization and characterization of the human gamma-synuclein gene.";
Hum. Genet. 103:106-112(1998).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA].
Han C.,
Zhang B.,
Peng X.,
Yuan J.,
Qiang B.;
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-110.
TISSUE=Colon;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[6]
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PHOSPHORYLATION.
DOI=10.1074/jbc.M003542200; PubMed=10852916 [NCBI, ExPASy, EBI, Israel, Japan]
Pronin A.N.,
Morris A.J.,
Surguchov A.,
Benovic J.L.;
"Synucleins are a novel class of substrates for G protein-coupled receptor kinases.";
J. Biol. Chem. 275:26515-26522(2000).
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[7]
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SUBCELLULAR LOCATION.
DOI=10.1002/cm.1035; PubMed=11746666 [NCBI, ExPASy, EBI, Israel, Japan]
Surguchov A.,
Palazzo R.E.,
Surgucheva I.;
"Gamma synuclein: subcellular localization in neuronal and non-neuronal cells and effect on signal transduction.";
Cell Motil. Cytoskeleton 49:218-228(2001).
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- FUNCTION: Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity).
- SUBUNIT: May be a centrosome-associated protein.
- INTERACTION:
P63167:DYNLL1; NbExp=1; IntAct=EBI-1053810, EBI-349105;
Q93063:EXT2; NbExp=1; IntAct=EBI-1053810, EBI-1047761;
P15090:FABP4; NbExp=1; IntAct=EBI-1053810, EBI-715333;
Q96AE4:FUBP1; NbExp=1; IntAct=EBI-1053810, EBI-711404;
P41235:HNF4A; NbExp=1; IntAct=EBI-1053810, EBI-1049011;
P25205:MCM3; NbExp=1; IntAct=EBI-1053810, EBI-355153;
P63162:SNRPN; NbExp=1; IntAct=EBI-1053810, EBI-712493;
P16035:TIMP2; NbExp=1; IntAct=EBI-1053810, EBI-1033507;
- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Centrosome. Spindle. Note=Associated with centrosomes in several interphase cells. In mitotic cells, localized to the poles of the spindle.
- TISSUE SPECIFICITY: Highly expressed in brain, particularly in the substantia nigra. Also expressed in the corpus callosum, heart, skeletal muscle, ovary, testis, colon and spleen. Weak expression in pancreas, kidney and lung.
- PTM: Phosphorylated. Phosphorylation by GRK5 appears to occur on residues distinct from the residue phosphorylated by other kinases.
- DISEASE: Brain iron accumulation type 1 (NBIA1, also called Hallervorden-Spatz syndrome), a rare neuroaxonal dystrophy, is histologically characterized by axonal spheroids, iron deposition, Lewy body (LB)-like intraneuronal inclusions, glial inclusions and neurofibrillary tangles. SNCG is found in spheroids but not in inclusions.
- SIMILARITY: Belongs to the synuclein family.
- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SNCGID42343ch10q23.html";.
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