Reviewed,
UniProtKB/Swiss-Prot O76070 (SYUG_HUMAN)
Last modified
June 16, 2009.
Version 86.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Gamma-synuclein Alternative name(s): Persyn Breast cancer-specific gene 1 protein Synoretin Short name=SR | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 127 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| 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 structure | May be a centrosome-associated protein. |
| 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. Ref.7 |
| 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. |
| Post-translational modification | Phosphorylated. Phosphorylation by GRK5 appears to occur on residues distinct from the residue phosphorylated by other kinases. Ref.6 Ref.8 |
| Involvement in 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. |
| Sequence similarities | Belongs to the synuclein family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Cellular component | centrosome Inferred from electronic annotation. Source: UniProtKB-SubCell perinuclear region of cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell spindleInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DYNLL1 | P63167 | 1 | EBI-1053810,EBI-349105 | |
| EXT2 | Q93063 | 1 | EBI-1053810,EBI-1047761 | |
| FABP4 | P15090 | 1 | EBI-1053810,EBI-715333 | |
| FUBP1 | Q96AE4 | 1 | EBI-1053810,EBI-711404 | |
| HNF4A | P41235 | 1 | EBI-1053810,EBI-1049011 | |
| MCM3 | P25205 | 1 | EBI-1053810,EBI-355153 | |
| SNRPN | P63162 | 1 | EBI-1053810,EBI-712493 | |
| TIMP2 | P16035 | 1 | EBI-1053810,EBI-1033507 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 127 | 127 | Gamma-synuclein | PRO_0000184038 | |||||
Regions | |||||||||
| Repeat | 20 – 30 | 11 | 1 | ||||||
| Repeat | 31 – 41 | 11 | 2 | ||||||
| Repeat | 42 – 56 | 15 | 3; approximate | ||||||
| Repeat | 57 – 67 | 11 | 4 | ||||||
| Region | 20 – 67 | 48 | 4 X 11 AA tandem repeats of [EGSA]-K-T-K-[EQ]-[GQ]-V-X(4) | ||||||
Amino acid modifications | |||||||||
| Modified residue | 124 | 1 | Phosphoserine; by BARK1, CaMK2 and CK2 Ref.8 | ||||||
Natural variations | |||||||||
| Natural variant | 110 | 1 | E → V: dbSNP rs9864. Ref.3 Ref.5 | VAR_007455 | |||||
Experimental info | |||||||||
| Sequence conflict | 13 | 1 | E → K in AAB64109. Ref.1 | ||||||
| Sequence conflict | 17 | 1 | G → D in AAL05870. Ref.4 | ||||||
| Sequence conflict | 68 | 1 | E → K in AAB64109. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a breast cancer-specific gene, BCSG1, by direct differential cDNA sequencing." Ji H., Liu Y.E., Jia T., Wang M., Liu J., Xiao G., Joseph B.K., Rosen C., Shi Y.E. Cancer Res. 57:759-764(1997) [PubMed: 9044857] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Mammary cancer. |
| [2] | "Organization, expression and polymorphism of the human persyn gene." 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. Hum. Mol. Genet. 7:1417-1424(1998) [PubMed: 9700196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [3] | "Identification, localization and characterization of the human gamma-synuclein gene." Lavedan C., Leroy E., Dehejia A., Buchholtz S., Dutra A., Nussbaum R.L., Polymeropoulos M.H. Hum. Genet. 103:106-112(1998) [PubMed: 9737786] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-110. |
| [4] | Han C., Zhang B., Peng X., Yuan J., Qiang B. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-110. Tissue: Colon. |
| [6] | "Synucleins are a novel class of substrates for G protein-coupled receptor kinases." Pronin A.N., Morris A.J., Surguchov A., Benovic J.L. J. Biol. Chem. 275:26515-26522(2000) [PubMed: 10852916] [Abstract] Cited for: PHOSPHORYLATION. |
| [7] | "Gamma synuclein: subcellular localization in neuronal and non-neuronal cells and effect on signal transduction." Surguchov A., Palazzo R.E., Surgucheva I. Cell Motil. Cytoskeleton 49:218-228(2001) [PubMed: 11746666] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-124, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF010126 mRNA. Translation: AAB64109.1. AF037207 Genomic DNA. Translation: AAC36586.1. AF017256 mRNA. Translation: AAC36550.1. AF044311 Genomic DNA. Translation: AAC27738.1. AF411524 mRNA. Translation: AAL05870.1. BC014098 mRNA. Translation: AAH14098.1. | |
| IPI | IPI00297714. |
| RefSeq | NP_003078.2. |
| UniGene | Hs.349470 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O76070. 12 interactions. |
PTM databases | |
| PhosphoSite | O76070. |
Proteomic databases | |
| PeptideAtlas | O76070. |
| PRIDE | O76070. |
Genome annotation databases | |
| Ensembl | ENSG00000173267. Homo sapiens. [Contig view] |
| GeneID | 6623. |
| KEGG | hsa:6623. |
Organism-specific databases | |
| GeneCards | GC10P088708. |
| H-InvDB | HIX0008999. |
| HGNC | HGNC:11141. SNCG. |
| HPA | CAB001452. HPA014404. |
| MIM | 602998. gene. |
| PharmGKB | PA35989. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O76070. |
| HOVERGEN | O76070. |
| OMA | O76070. TGVVRKE. |
Gene expression databases | |
| ArrayExpress | O76070. |
| Bgee | O76070. |
| CleanEx | HS_SNCG. |
| GermOnline | ENSG00000173267. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001058. Synuclein. IPR002462. Synuclein_gamma. [Graphical view] |
| Gene3D | G3DSA:1.10.287.700. Synuclein. 1 hit. |
| PANTHER | PTHR13820. Synuclein. 1 hit. PTHR13820:SF1. Synuclein_gamma. 1 hit. |
| Pfam | PF01387. Synuclein. 1 hit. [Graphical view] |
| PRINTS | PR01214. GSYNUCLEIN. PR01211. SYNUCLEIN. |
| ProDom | PD010631. Synuclein. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 25797. |
| SOURCE | Search... |
Entry information
| Entry name | SYUG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O76070 Secondary accession number(s): O15104, Q96P61 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


