ID SYUG_HUMAN Reviewed; 127 AA. AC O76070; O15104; Q96P61; DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot. DT 21-MAR-2006, sequence version 2. DT 25-JAN-2012, entry version 112. DE RecName: Full=Gamma-synuclein; DE AltName: Full=Breast cancer-specific gene 1 protein; DE AltName: Full=Persyn; DE AltName: Full=Synoretin; DE Short=SR; GN Name=SNCG; Synonyms=BCSG1, PERSYN, PRSN; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Mammary cancer; RX MEDLINE=97178957; PubMed=9044857; RA Ji H., Liu Y.E., Jia T., Wang M., Liu J., Xiao G., Joseph B.K., RA Rosen C., Shi Y.E.; RT "Identification of a breast cancer-specific gene, BCSG1, by direct RT differential cDNA sequencing."; RL Cancer Res. 57:759-764(1997). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. RX MEDLINE=98367030; PubMed=9700196; DOI=10.1093/hmg/7.9.1417; RA Ninkina N.N., Alimova-Kost M.V., Paterson J.W.E., Delaney L., RA Cohen B.B., Imreh S., Gnuchev N.V., Davies A.M., Buchman V.L.; RT "Organization, expression and polymorphism of the human persyn gene."; RL Hum. Mol. Genet. 7:1417-1424(1998). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-110. RX MEDLINE=98407804; PubMed=9737786; DOI=10.1007/s004390050792; RA Lavedan C., Leroy E., Dehejia A., Buchholtz S., Dutra A., RA Nussbaum R.L., Polymeropoulos M.H.; RT "Identification, localization and characterization of the human gamma- RT synuclein gene."; RL Hum. Genet. 103:106-112(1998). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA]. RA Han C., Zhang B., Peng X., Yuan J., Qiang B.; RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-110. RC TISSUE=Colon; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP PHOSPHORYLATION. RX MEDLINE=20409007; PubMed=10852916; DOI=10.1074/jbc.M003542200; RA Pronin A.N., Morris A.J., Surguchov A., Benovic J.L.; RT "Synucleins are a novel class of substrates for G protein-coupled RT receptor kinases."; RL J. Biol. Chem. 275:26515-26522(2000). RN [7] RP SUBCELLULAR LOCATION. RX MEDLINE=21610345; PubMed=11746666; DOI=10.1002/cm.1035; RA Surguchov A., Palazzo R.E., Surgucheva I.; RT "Gamma synuclein: subcellular localization in neuronal and non- RT neuronal cells and effect on signal transduction."; RL Cell Motil. Cytoskeleton 49:218-228(2001). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124, AND MASS RP SPECTROMETRY. RC TISSUE=Cervix carcinoma; RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). CC -!- FUNCTION: Plays a role in neurofilament network integrity. May be CC involved in modulating axonal architecture during development and CC in the adult. In vitro, increases the susceptibility of CC neurofilament-H to calcium-dependent proteases (By similarity). CC May also function in modulating the keratin network in skin. CC Activates the MAPK and Elk-1 signal transduction pathway (By CC similarity). CC -!- SUBUNIT: May be a centrosome-associated protein. CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm, CC cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. CC Note=Associated with centrosomes in several interphase cells. In CC mitotic cells, localized to the poles of the spindle. CC -!- TISSUE SPECIFICITY: Highly expressed in brain, particularly in the CC substantia nigra. Also expressed in the corpus callosum, heart, CC skeletal muscle, ovary, testis, colon and spleen. Weak expression CC in pancreas, kidney and lung. CC -!- PTM: Phosphorylated. Phosphorylation by GRK5 appears to occur on CC residues distinct from the residue phosphorylated by other CC kinases. CC -!- SIMILARITY: Belongs to the synuclein family. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/SNCGID42343ch10q23.html"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF010126; AAB64109.1; -; mRNA. DR EMBL; AF037207; AAC36586.1; -; Genomic_DNA. DR EMBL; AF017256; AAC36550.1; -; mRNA. DR EMBL; AF044311; AAC27738.1; -; Genomic_DNA. DR EMBL; AF411524; AAL05870.1; -; mRNA. DR EMBL; BC014098; AAH14098.1; -; mRNA. DR IPI; IPI00297714; -. DR RefSeq; NP_003078.2; NM_003087.2. DR UniGene; Hs.349470; -. DR ProteinModelPortal; O76070; -. DR SMR; O76070; 1-100. DR STRING; O76070; -. DR PhosphoSite; O76070; -. DR PeptideAtlas; O76070; -. DR PRIDE; O76070; -. DR Ensembl; ENST00000372017; ENSP00000361087; ENSG00000173267. DR GeneID; 6623; -. DR KEGG; hsa:6623; -. DR CTD; 6623; -. DR GeneCards; GC10P088708; -. DR H-InvDB; HIX0201502; -. DR HGNC; HGNC:11141; SNCG. DR HPA; CAB001452; -. DR HPA; CAB040581; -. DR HPA; HPA014404; -. DR MIM; 602998; gene. DR neXtProt; NX_O76070; -. DR PharmGKB; PA35989; -. DR eggNOG; prNOG21352; -. DR HOGENOM; HBG715579; -. DR HOVERGEN; HBG000481; -. DR InParanoid; O76070; -. DR OMA; TGVVRKE; -. DR PhylomeDB; O76070; -. DR NextBio; 25797; -. DR ArrayExpress; O76070; -. DR Bgee; O76070; -. DR CleanEx; HS_SNCG; -. DR Genevestigator; O76070; -. DR GermOnline; ENSG00000173267; Homo sapiens. DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell. DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0005819; C:spindle; IEA:UniProtKB-SubCell. DR InterPro; IPR001058; Synuclein. DR InterPro; IPR002462; Synuclein_gamma. DR Gene3D; G3DSA:1.10.287.700; Synuclein; 1. DR PANTHER; PTHR13820; Synuclein; 1. DR Pfam; PF01387; Synuclein; 1. DR PRINTS; PR01214; GSYNUCLEIN. DR PRINTS; PR01211; SYNUCLEIN. PE 1: Evidence at protein level; KW Complete proteome; Cytoplasm; Cytoskeleton; Phosphoprotein; KW Polymorphism; Reference proteome; Repeat. FT CHAIN 1 127 Gamma-synuclein. FT /FTId=PRO_0000184038. FT REPEAT 20 30 1. FT REPEAT 31 41 2. FT REPEAT 42 56 3; approximate. FT REPEAT 57 67 4. FT REGION 20 67 4 X 11 AA tandem repeats of [EGSA]-K-T-K- FT [EQ]-[GQ]-V-X(4). FT MOD_RES 124 124 Phosphoserine; by BARK1, CaMK2 and CK2. FT VARIANT 110 110 E -> V (in dbSNP:rs9864). FT /FTId=VAR_007455. FT CONFLICT 13 13 E -> K (in Ref. 1; AAB64109). FT CONFLICT 17 17 G -> D (in Ref. 4; AAL05870). FT CONFLICT 68 68 E -> K (in Ref. 1; AAB64109). SQ SEQUENCE 127 AA; 13331 MW; F183DEF302DBE688 CRC64; MDVFKKGFSI AKEGVVGAVE KTKQGVTEAA EKTKEGVMYV GAKTKENVVQ SVTSVAEKTK EQANAVSEAV VSSVNTVATK TVEEAENIAV TSGVVRKEDL RPSAPQQEGE ASKEKEEVAE EAQSGGD //