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Q9Y6H5

- SNCAP_HUMAN

UniProt

Q9Y6H5 - SNCAP_HUMAN

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Protein

Synphilin-1

Gene

SNCAIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1.2 Publications

GO - Molecular functioni

  1. identical protein binding Source: IntAct
  2. ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. dopamine metabolic process Source: MGI
  3. regulation of inclusion body assembly Source: BHF-UCL
  4. regulation of neurotransmitter secretion Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Synphilin-1
Short name:
Sph1
Alternative name(s):
Alpha-synuclein-interacting protein
Gene namesi
Name:SNCAIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:11139. SNCAIP.

Subcellular locationi

Cytoplasm 4 Publications
Note: Detected in cytoplasmic inclusion bodies, together with SNCA.

GO - Cellular componenti

  1. cytoplasm Source: MGI
  2. neuronal cell body Source: UniProtKB
  3. presynaptic membrane Source: UniProtKB
  4. synaptic vesicle Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.1 Publication
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi79 – 791V → N: Decreases interaction with SIAH1 and formation of cytoplasmic inclusion bodies; when associated with N-81. 1 Publication
Mutagenesisi81 – 811P → N: Decreases interaction with SIAH1 and formation of cytoplasmic inclusion bodies; when associated with N-79. 1 Publication

Keywords - Diseasei

Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

MIMi168600. phenotype.
PharmGKBiPA35987.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 919919Synphilin-1PRO_0000067068Add
BLAST

Post-translational modificationi

Ubiquitinated; mediated by SIAH1, SIAH2 or RNF19A and leading to its subsequent proteasomal degradation. In the absence of proteasomal degradation, ubiquitinated SNCAIP accumulates in cytoplasmic inclusion bodies. Isoform 2 is subject to limited ubiquitination that does not lead to proteasomal degradation.3 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiQ9Y6H5.
PRIDEiQ9Y6H5.

PTM databases

PhosphoSiteiQ9Y6H5.

Miscellaneous databases

PMAP-CutDBQ9Y6H5.

Expressioni

Tissue specificityi

Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.2 Publications

Gene expression databases

BgeeiQ9Y6H5.
CleanExiHS_SNCAIP.
ExpressionAtlasiQ9Y6H5. baseline and differential.
GenevestigatoriQ9Y6H5.

Organism-specific databases

HPAiCAB022597.
HPA003266.

Interactioni

Subunit structurei

Homodimer (Probable). Heterodimer of isoform 1 and isoform 2 (Probable). Interacts with SIAH1, SIAH2, SNCA, RNF19A AND PARK2. Isoform 2 has a strong tendency to form aggregates and can sequester isoform 1.8 PublicationsCurated

Binary interactionsi

WithEntry#Exp.IntActNotes
itself5EBI-717182,EBI-717182
KALRNO60229-23EBI-9075374,EBI-9075360
SNCAP3784022EBI-717182,EBI-985879

Protein-protein interaction databases

BioGridi114986. 29 interactions.
IntActiQ9Y6H5. 14 interactions.
MINTiMINT-1380209.
STRINGi9606.ENSP00000261368.

Structurei

Secondary structure

1
919
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi512 – 55443

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KESNMR-A512-557[»]
ProteinModelPortaliQ9Y6H5.
SMRiQ9Y6H5. Positions 320-557.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y6H5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati349 – 38032ANK 1Add
BLAST
Repeati384 – 41330ANK 2Add
BLAST
Repeati419 – 44830ANK 3Add
BLAST
Repeati456 – 48530ANK 4Add
BLAST
Repeati603 – 63230ANK 5Add
BLAST
Repeati699 – 72931ANK 6Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili515 – 55238Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG0666.
GeneTreeiENSGT00390000001485.
HOVERGENiHBG061375.
InParanoidiQ9Y6H5.
KOiK04558.
OMAiQWKSPDA.
PhylomeDBiQ9Y6H5.
TreeFamiTF329095.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
SMARTiSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y6H5-1) [UniParc]FASTAAdd to Basket

Also known as: 1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAPEYLDLD EIDFSDDISY SVTSLKTIPE LCRRCDTQNE DRSVSSSSWN
60 70 80 90 100
CGISTLITNT QKPTGIADVY SKFRPVKRVS PLKHQPETLE NNESDDQKNQ
110 120 130 140 150
KVVEYQKGGE SDLGPQPQEL GPGDGVGGPP GKSSEPSTSL GELEHYDLDM
160 170 180 190 200
DEILDVPYIK SSQQLASFTK VTSEKRILGL CTTINGLSGK ACSTGSSESS
210 220 230 240 250
SSNMAPFCVL SPVKSPHLRK ASAVIHDQHK LSTEETEISP PLVKCGSAYE
260 270 280 290 300
PENQSKDFLN KTFSDPHGRK VEKTTPDCQL RAFHLQSSAA ESKPEEQVSG
310 320 330 340 350
LNRTSSQGPE ERSEYLKKVK SILNIVKEGQ ISLLPHLAAD NLDKIHDENG
360 370 380 390 400
NNLLHIAASQ GHAECLQHLT SLMGEDCLNE RNTEKLTPAG LAIKNGQLEC
410 420 430 440 450
VRWMVSETEA IAELSCSKDF PSLIHYAGCY GQEKILLWLL QFMQEQGISL
460 470 480 490 500
DEVDQDGNSA VHVASQHGYL GCIQTLVEYG ANVTMQNHAG EKPSQSAERQ
510 520 530 540 550
GHTLCSRYLV VVETCMSLAS QVVKLTKQLK EQTVERVTLQ NQLQQFLEAQ
560 570 580 590 600
KSEGKSLPSS PSSPSSPASR KSQWKSPDAD DDSVAKSKPG VQEGIQVLGS
610 620 630 640 650
LSASSRARPK AKDEDSDKIL RQLLGKEISE NVCTQEKLSL EFQDAQASSR
660 670 680 690 700
NSKKIPLEKR ELKLARLRQL MQRSLSESDT DSNNSEDPKT TPVRKADRPR
710 720 730 740 750
PQPIVESVES MDSAESLHLM IKKHTLASGG RRFPFSIKAS KSLDGHSPSP
760 770 780 790 800
TSESSEPDLE SQYPGSGSIP PNQPSGDPQQ PSPDSTAAQK VATSPKSALK
810 820 830 840 850
SPSSKRRTSQ NLKLRVTFEE PVVQMEQPSL ELNGEKDKDK GRTLQRTSTS
860 870 880 890 900
NESGDQLKRP FGAFRSIMET LSGNQNNNNN YQAANQLKTS TLPLTSLGRK
910
TDAKGNPASS ASKGKNKAA
Length:919
Mass (Da):100,409
Last modified:July 22, 2008 - v2
Checksum:i55C5316F250D0480
GO
Isoform 2 (identifier: Q9Y6H5-2) [UniParc]FASTAAdd to Basket

Also known as: Synphilin-1A

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.
     367-394: QHLTSLMGEDCLNERNTEKLTPAGLAIK → MTYLIQSHHSRRSQNCAEDVIRKTKTDQ
     919-919: A → EMYSSCINLSSNMLIEEHLCNDTRHNDINRKMKKSYSIKHIAEPESKELFL

Show »
Length:603
Mass (Da):66,646
Checksum:i3C41F69D861CE493
GO
Isoform 3 (identifier: Q9Y6H5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-19: S → SDNRSQGNRLQKLGLEDTDREDAMGFGSHRAKLTVVAALGACHCPENE
     919-919: A → EMYSSCINLSSNMLIEEHLCNDTRHNDINRKMKKSYSIKHIAEPESKELFL

Show »
Length:1,016
Mass (Da):111,455
Checksum:i6EC840B66BA8217D
GO
Isoform 4 (identifier: Q9Y6H5-4) [UniParc]FASTAAdd to Basket

Also known as: 1b

The sequence of this isoform differs from the canonical sequence as follows:
     335-394: Missing.

Show »
Length:859
Mass (Da):93,930
Checksum:i949D53FF98FCE6E6
GO
Isoform 5 (identifier: Q9Y6H5-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.
     367-394: QHLTSLMGEDCLNERNTEKLTPAGLAIK → MTYLIQSHHSRRSQNCAEDVIRKTKTDQ

Show »
Length:553
Mass (Da):60,693
Checksum:iEAEBC23FCD35545A
GO
Isoform 6 (identifier: Q9Y6H5-6) [UniParc]FASTAAdd to Basket

Also known as: 1c

The sequence of this isoform differs from the canonical sequence as follows:
     19-19: S → SDNRSQGNRLQKLGLEDTDREDAMGFGSHRAKLTVVAALGACHCPENE
     476-541: LVEYGANVTM...QTVERVTLQN → RLKIQGTWNG...NQLPETKSSY
     542-919: Missing.

Show »
Length:588
Mass (Da):64,469
Checksum:iEBF343E479576255
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti188 – 1881S → F in AAH40552. (PubMed:15489334)Curated
Sequence conflicti614 – 6141E → G in AAH40552. (PubMed:15489334)Curated
Sequence conflicti696 – 6961A → G in AAH40552. (PubMed:15489334)Curated
Sequence conflicti712 – 7121D → G in AAH94759. (PubMed:15489334)Curated
Sequence conflicti801 – 8011S → P in AAH33743. (PubMed:15489334)Curated
Sequence conflicti919 – 9191A → E in AAH94759. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441V → A.3 Publications
Corresponds to variant rs56285021 [ dbSNP | Ensembl ].
VAR_065358
Natural varianti235 – 2351E → G.
Corresponds to variant rs6867105 [ dbSNP | Ensembl ].
VAR_048312
Natural varianti621 – 6211R → C Found in patients with symptoms of Parkinson disease; unknown pathological significance; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type (wt) protein when subjected to proteasomal inhibition; C-621 transfected cells are more susceptible to staurosporine-induced cell death than cells expressin wt protein. 2 Publications
Corresponds to variant rs28937592 [ dbSNP | Ensembl ].
VAR_025667
Natural varianti706 – 7061E → Q.1 Publication
VAR_065359

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 366366Missing in isoform 2 and isoform 5. 2 PublicationsVSP_038839Add
BLAST
Alternative sequencei19 – 191S → SDNRSQGNRLQKLGLEDTDR EDAMGFGSHRAKLTVVAALG ACHCPENE in isoform 3 and isoform 6. 2 PublicationsVSP_038840
Alternative sequencei335 – 39460Missing in isoform 4. 1 PublicationVSP_038841Add
BLAST
Alternative sequencei367 – 39428QHLTS…GLAIK → MTYLIQSHHSRRSQNCAEDV IRKTKTDQ in isoform 2 and isoform 5. 2 PublicationsVSP_038842Add
BLAST
Alternative sequencei476 – 54166LVEYG…VTLQN → RLKIQGTWNGSETCLFTHHF SSYPPISSGLQCQGQEGVLF IPDQVGAATNKQVLFQNQLP ETKSSY in isoform 6. 1 PublicationVSP_038843Add
BLAST
Alternative sequencei542 – 919378Missing in isoform 6. 1 PublicationVSP_038844Add
BLAST
Alternative sequencei919 – 9191A → EMYSSCINLSSNMLIEEHLC NDTRHNDINRKMKKSYSIKH IAEPESKELFL in isoform 2 and isoform 3. 2 PublicationsVSP_038845

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF076929 mRNA. Translation: AAD30362.1.
AF167306
, AF167301, AF167302, AF167303, AF167304, AF167305 Genomic DNA. Translation: AAG17478.1.
DQ227317 mRNA. Translation: ABB51162.1.
CH471086 Genomic DNA. Translation: EAW48889.1.
AB110788 mRNA. Translation: BAD19017.1.
AB110789 mRNA. Translation: BAD19018.1.
AB110790 mRNA. Translation: BAD19019.1.
CH471086 Genomic DNA. Translation: EAW48890.1.
BC033743 mRNA. Translation: AAH33743.1.
BC040552 mRNA. Translation: AAH40552.1.
BC094759 mRNA. Translation: AAH94759.1.
CCDSiCCDS4131.1. [Q9Y6H5-1]
CCDS58964.1. [Q9Y6H5-2]
RefSeqiNP_001229864.1. NM_001242935.1. [Q9Y6H5-2]
NP_005451.2. NM_005460.2. [Q9Y6H5-1]
XP_006714798.1. XM_006714735.1. [Q9Y6H5-1]
UniGeneiHs.426463.

Genome annotation databases

EnsembliENST00000261367; ENSP00000261367; ENSG00000064692. [Q9Y6H5-3]
ENST00000261368; ENSP00000261368; ENSG00000064692. [Q9Y6H5-1]
ENST00000379538; ENSP00000368854; ENSG00000064692. [Q9Y6H5-2]
ENST00000395469; ENSP00000378852; ENSG00000064692. [Q9Y6H5-6]
GeneIDi9627.
KEGGihsa:9627.
UCSCiuc003ksw.1. human. [Q9Y6H5-1]
uc003ksx.1. human. [Q9Y6H5-3]
uc003ksy.1. human. [Q9Y6H5-2]
uc003ksz.1. human. [Q9Y6H5-5]

Polymorphism databases

DMDMi205831000.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF076929 mRNA. Translation: AAD30362.1 .
AF167306
, AF167301 , AF167302 , AF167303 , AF167304 , AF167305 Genomic DNA. Translation: AAG17478.1 .
DQ227317 mRNA. Translation: ABB51162.1 .
CH471086 Genomic DNA. Translation: EAW48889.1 .
AB110788 mRNA. Translation: BAD19017.1 .
AB110789 mRNA. Translation: BAD19018.1 .
AB110790 mRNA. Translation: BAD19019.1 .
CH471086 Genomic DNA. Translation: EAW48890.1 .
BC033743 mRNA. Translation: AAH33743.1 .
BC040552 mRNA. Translation: AAH40552.1 .
BC094759 mRNA. Translation: AAH94759.1 .
CCDSi CCDS4131.1. [Q9Y6H5-1 ]
CCDS58964.1. [Q9Y6H5-2 ]
RefSeqi NP_001229864.1. NM_001242935.1. [Q9Y6H5-2 ]
NP_005451.2. NM_005460.2. [Q9Y6H5-1 ]
XP_006714798.1. XM_006714735.1. [Q9Y6H5-1 ]
UniGenei Hs.426463.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KES NMR - A 512-557 [» ]
ProteinModelPortali Q9Y6H5.
SMRi Q9Y6H5. Positions 320-557.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114986. 29 interactions.
IntActi Q9Y6H5. 14 interactions.
MINTi MINT-1380209.
STRINGi 9606.ENSP00000261368.

Chemistry

ChEMBLi CHEMBL1926494.

PTM databases

PhosphoSitei Q9Y6H5.

Polymorphism databases

DMDMi 205831000.

Proteomic databases

PaxDbi Q9Y6H5.
PRIDEi Q9Y6H5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261367 ; ENSP00000261367 ; ENSG00000064692 . [Q9Y6H5-3 ]
ENST00000261368 ; ENSP00000261368 ; ENSG00000064692 . [Q9Y6H5-1 ]
ENST00000379538 ; ENSP00000368854 ; ENSG00000064692 . [Q9Y6H5-2 ]
ENST00000395469 ; ENSP00000378852 ; ENSG00000064692 . [Q9Y6H5-6 ]
GeneIDi 9627.
KEGGi hsa:9627.
UCSCi uc003ksw.1. human. [Q9Y6H5-1 ]
uc003ksx.1. human. [Q9Y6H5-3 ]
uc003ksy.1. human. [Q9Y6H5-2 ]
uc003ksz.1. human. [Q9Y6H5-5 ]

Organism-specific databases

CTDi 9627.
GeneCardsi GC05P121675.
GeneReviewsi SNCAIP.
H-InvDB HIX0005121.
HIX0018508.
HGNCi HGNC:11139. SNCAIP.
HPAi CAB022597.
HPA003266.
MIMi 168600. phenotype.
603779. gene.
neXtProti NX_Q9Y6H5.
PharmGKBi PA35987.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
GeneTreei ENSGT00390000001485.
HOVERGENi HBG061375.
InParanoidi Q9Y6H5.
KOi K04558.
OMAi QWKSPDA.
PhylomeDBi Q9Y6H5.
TreeFami TF329095.

Miscellaneous databases

ChiTaRSi SNCAIP. human.
EvolutionaryTracei Q9Y6H5.
GeneWikii SNCAIP.
GenomeRNAii 9627.
NextBioi 36127.
PMAP-CutDB Q9Y6H5.
PROi Q9Y6H5.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y6H5.
CleanExi HS_SNCAIP.
ExpressionAtlasi Q9Y6H5. baseline and differential.
Genevestigatori Q9Y6H5.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view ]
Pfami PF12796. Ank_2. 2 hits.
[Graphical view ]
SMARTi SM00248. ANK. 4 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH SNCA, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-44.
    Tissue: Brain.
  2. "Organization of the human synphilin-1 gene, a candidate for Parkinson's disease."
    Engelender S., Wanner T., Kleiderlein J.J., Wakabayashi K., Tsuji S., Takahashi H., Ashworth R., Margolis R.L., Ross C.A.
    Mamm. Genome 11:763-766(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients."
    Eyal A., Szargel R., Avraham E., Liani E., Haskin J., Rott R., Engelender S.
    Proc. Natl. Acad. Sci. U.S.A. 103:5917-5922(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH SNCA, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  4. "Identification and characterization of alternatively spliced form of human synphilin-1."
    Lim M.K., Ohsawa Y., Kawamura T., Asakawa S., Takayanagi A., Minoshima S., Shimizu N.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 4 AND 6), VARIANT ALA-44.
    Tissue: Cerebellum and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 5).
    Tissue: Brain and Testis.
  7. "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease."
    Chung K.K.K., Zhang Y., Lim K.L., Tanaka Y., Huang H., Gao J., Ross C.A., Dawson V.L., Dawson T.M.
    Nat. Med. 7:1144-1150(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PARK2, UBIQUITINATION.
  8. "Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1."
    Ito T., Niwa J., Hishikawa N., Ishigaki S., Doyu M., Sobue G.
    J. Biol. Chem. 278:29106-29114(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RNF19A, UBIQUITINATION.
  9. Cited for: INTERACTION WITH SIAH1, DEGRADATION.
  10. "Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease."
    Liani E., Eyal A., Avraham E., Shemer R., Szargel R., Berg D., Bornemann A., Riess O., Ross C.A., Rott R., Engelender S.
    Proc. Natl. Acad. Sci. U.S.A. 101:5500-5505(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, UBIQUITINATION, PROTEASOMAL DEGRADATION, INTERACTION WITH SIAH1 AND SIAH2, MUTAGENESIS OF VAL-79 AND PRO-81.
  11. "Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation."
    Szargel R., Rott R., Eyal A., Haskin J., Shani V., Balan L., Wolosker H., Engelender S.
    J. Biol. Chem. 284:11706-11716(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH SIAH1.
  12. "Interaction with synphilin-1 promotes inclusion formation of alpha-synuclein: mechanistic insights and pathological implication."
    Xie Y.Y., Zhou C.J., Zhou Z.R., Hong J., Che M.X., Fu Q.S., Song A.X., Lin D.H., Hu H.Y.
    FASEB J. 24:196-205(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 512-557, INTERACTION WITH SNCA, PROMOTION OF INCLUSION BODY FORMATION, SUBCELLULAR LOCATION.
  13. "Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease."
    Marx F.P., Holzmann C., Strauss K.M., Li L., Eberhardt O., Gerhardt E., Cookson M.R., Hernandez D., Farrer M.J., Kachergus J., Engelender S., Ross C.A., Berger K., Schols L., Schulz J.B., Riess O., Kruger R.
    Hum. Mol. Genet. 12:1223-1231(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CYS-621, CHARACTERIZATION OF VARIANT CYS-621, POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO PARKINSON DISEASE.
  14. "Genetic association study of synphilin-1 in idiopathic Parkinson's disease."
    Myhre R., Klungland H., Farrer M.J., Aasly J.O.
    BMC Med. Genet. 9:19-19(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-44; CYS-621 AND GLN-706, LACK OF ASSOCIATION WITH PARKINSON DISEASE.

Entry informationi

Entry nameiSNCAP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6H5
Secondary accession number(s): D3DSZ1
, Q05BS1, Q1PSC2, Q49AC6, Q504U9, Q6L984, Q6L985, Q6L986, Q9HC59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 22, 2008
Last modified: October 29, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Constructs encoding portions of SNCA and SNCAIP co-transfected in mammalian cells promote cytosolic inclusions resembling the Lewy bodies of Parkinson disease. Coexpression of SNCA, SNCAIP, and PARK2 result in the formation of Lewy body-like. ubiquitin-positive cytosolic inclusions. SNCAIP isoform 2 is particularly aggregation-prone. Familial mutations in PARK2 disrupt the ubiquitination of SNCAIP and the formation of the ubiquitin-positive inclusions. These results provide a molecular basis for the ubiquitination of Lewy body-associated proteins and link PARK2 and SNCA in a common pathogenic mechanism through their interaction with SNCAIP.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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