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Q9Y6H5

- SNCAP_HUMAN

UniProt

Q9Y6H5 - SNCAP_HUMAN

Protein

Synphilin-1

Gene

SNCAIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (22 Jul 2008)
      Previous versions | rss
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    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. protein binding Source: IntAct
    3. 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

    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

    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

    ArrayExpressiQ9Y6H5.
    BgeeiQ9Y6H5.
    CleanExiHS_SNCAIP.
    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. 28 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 320-510, 512-557.
    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.
    HOVERGENiHBG061375.
    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

    MEAPEYLDLD EIDFSDDISY SVTSLKTIPE LCRRCDTQNE DRSVSSSSWN    50
    CGISTLITNT QKPTGIADVY SKFRPVKRVS PLKHQPETLE NNESDDQKNQ 100
    KVVEYQKGGE SDLGPQPQEL GPGDGVGGPP GKSSEPSTSL GELEHYDLDM 150
    DEILDVPYIK SSQQLASFTK VTSEKRILGL CTTINGLSGK ACSTGSSESS 200
    SSNMAPFCVL SPVKSPHLRK ASAVIHDQHK LSTEETEISP PLVKCGSAYE 250
    PENQSKDFLN KTFSDPHGRK VEKTTPDCQL RAFHLQSSAA ESKPEEQVSG 300
    LNRTSSQGPE ERSEYLKKVK SILNIVKEGQ ISLLPHLAAD NLDKIHDENG 350
    NNLLHIAASQ GHAECLQHLT SLMGEDCLNE RNTEKLTPAG LAIKNGQLEC 400
    VRWMVSETEA IAELSCSKDF PSLIHYAGCY GQEKILLWLL QFMQEQGISL 450
    DEVDQDGNSA VHVASQHGYL GCIQTLVEYG ANVTMQNHAG EKPSQSAERQ 500
    GHTLCSRYLV VVETCMSLAS QVVKLTKQLK EQTVERVTLQ NQLQQFLEAQ 550
    KSEGKSLPSS PSSPSSPASR KSQWKSPDAD DDSVAKSKPG VQEGIQVLGS 600
    LSASSRARPK AKDEDSDKIL RQLLGKEISE NVCTQEKLSL EFQDAQASSR 650
    NSKKIPLEKR ELKLARLRQL MQRSLSESDT DSNNSEDPKT TPVRKADRPR 700
    PQPIVESVES MDSAESLHLM IKKHTLASGG RRFPFSIKAS KSLDGHSPSP 750
    TSESSEPDLE SQYPGSGSIP PNQPSGDPQQ PSPDSTAAQK VATSPKSALK 800
    SPSSKRRTSQ NLKLRVTFEE PVVQMEQPSL ELNGEKDKDK GRTLQRTSTS 850
    NESGDQLKRP FGAFRSIMET LSGNQNNNNN YQAANQLKTS TLPLTSLGRK 900
    TDAKGNPASS ASKGKNKAA 919
    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 320-510, 512-557.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114986. 28 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.
    HOVERGENi HBG061375.
    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

    ArrayExpressi Q9Y6H5.
    Bgeei Q9Y6H5.
    CleanExi HS_SNCAIP.
    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

    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 1, 2014
    This is version 129 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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