Reviewed, UniProtKB/Swiss-Prot O76070 (SYUG_HUMAN)

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

Name:	SNCG
Synonyms:	BCSG1, PERSYN, PRSN

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 cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell spindle Inferred 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

	Sequence		Length	Mass (Da)
	O76070-1 [UniParc]. Last modified March 21, 2006. Version 2. Checksum: F183DEF302DBE688	FASTA	127	13,331
	10 20 30 40 50 60 MDVFKKGFSI AKEGVVGAVE KTKQGVTEAA EKTKEGVMYV GAKTKENVVQ SVTSVAEKTK 70 80 90 100 110 120 EQANAVSEAV VSSVNTVATK TVEEAENIAV TSGVVRKEDL RPSAPQQEGE ASKEKEEVAE EAQSGGD

References

	« Hide 'large scale' referencesShow '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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	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

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	March 21, 2006
Last modified:	June 16, 2009
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)