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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNCAIP Gene

protein-coding   GIFtS: 63
GCID: GC05P121675

Synuclein, Alpha Interacting Protein

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Synuclein, Alpha Interacting Protein1 2
Alpha-Synuclein-Interacting Protein2 3
Sph12 3
synphilin1
SYPH12
synphilin-12

External Ids:    HGNC: 111391   Entrez Gene: 96272   Ensembl: ENSG000000646927   OMIM: 6037795   UniProtKB: Q9Y6H53   

Export aliases for SNCAIP gene to outside databases

Previous GC identifers: GC05P121389 GC05P122085 GC05P121678 GC05P121724 GC05P116834


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNCAIP Gene:
This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like
repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein
in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A
mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants
encoding different isoforms of this gene have been described, but the full-length nature of only two have been
determined. (provided by RefSeq, Jul 2011)

GeneCards Summary for SNCAIP Gene: 
SNCAIP (synuclein, alpha interacting protein) is a protein-coding gene. Diseases associated with SNCAIP include lrrk2-related parkinson disease, and parkinson's disease, and among its related super-pathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Proteolysis Putative ubiquitin pathway. GO annotations related to this gene include protein binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5
Function: 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

Gene Wiki entry for SNCAIP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNCAIP gene promoter:
         NF-AT4   NF-AT2   Nkx6-1   p53   NF-AT3   Nkx2-5   Ik-3   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSNCAIP promoter sequence
   Search SABiosciences Chromatin IP Primers for SNCAIP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNCAIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.2   Ensembl cytogenetic band:  5q23.2   HGNC cytogenetic band: 5q23.2

SNCAIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNCAIP gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P121675:  view genomic region     (about GC identifiers)

Start:
121,647,049 bp from pter      End:
121,799,914 bp from pter
Size:
152,866 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5 (See protein sequence)
Recommended Name: Synphilin-1  
Size: 919 amino acids; 100409 Da
Subunit: 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
Subcellular location: Cytoplasm. Note=Detected in cytoplasmic inclusion bodies, together with SNCA
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
aggregatation-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
1 PDB 3D structure from and Proteopedia for SNCAIP:
2KES (3D)    
Secondary accessions: D3DSZ1 Q05BS1 Q1PSC2 Q49AC6 Q504U9 Q6L984 Q6L985 Q6L986 Q9HC59
Alternative splicing: 6 isoforms:  Q9Y6H5-1   Q9Y6H5-2   Q9Y6H5-3   Q9Y6H5-4   Q9Y6H5-5   Q9Y6H5-6   

Explore the universe of human proteins at neXtProt for SNCAIP: NX_Q9Y6H5

Explore proteomics data for SNCAIP at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6H5

  • SNCAIP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNCAIP Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229864.1  NP_005451.2  

    ENSEMBL proteins: 
     ENSP00000427090   ENSP00000426526   ENSP00000426551   ENSP00000422610   ENSP00000422106  
     ENSP00000261368   ENSP00000426280   ENSP00000425063   ENSP00000261367   ENSP00000427078  
     ENSP00000424338   ENSP00000427587   ENSP00000423360   ENSP00000378852   ENSP00000378849  
     ENSP00000427575   ENSP00000368848   ENSP00000368851   ENSP00000423199   ENSP00000426904  
     ENSP00000394392   ENSP00000368854   ENSP00000441681  

    Human Recombinant Protein Products for SNCAIP: 
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    OriGene MassSpec for SNCAIP 
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    GenScript Custom Purified and Recombinant Proteins Services for SNCAIP
    Novus Biologicals SNCAIP Proteins
    Novus Biologicals SNCAIP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0042734presynaptic membrane NAS11956199
    GO:0043025neuronal cell body NAS11956199

    SNCAIP for ontologies           About GeneDecksing



    SNCAIP Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SNCAIP
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    Novus Biologicals SNCAIP Antibodies
    Abcam antibodies for SNCAIP
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for SNCAIP
    LSBio Antibodies in human, mouse, rat for SNCAIP 

    Assay Products for SNCAIP: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SNCAIP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SNCAIP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9Y6H5

    ProtoNet protein and cluster: Q9Y6H5

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5
    Similarity: Contains 6 ANK repeats


    SNCAIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNCAP_HUMAN, Q9Y6H5
    Function: 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

         Genatlas biochemistry entry for SNCAIP:
    synphilin,alpha synuclein interacting protein expressed in brain,including substantia nigra,potentially involved
    in the formation of Lewy bodies and Parkinson disease

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11590439
    GO:0031625ubiquitin protein ligase binding IPI15728840
         
    SNCAIP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SNCAIP:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SNCAIP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNCAIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SNCAIP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SNCAIP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNCAIP
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SNCAIP:
    hsa-miR-3910 hsa-miR-124 hsa-miR-149 hsa-miR-138 hsa-miR-506 hsa-miR-4299 hsa-miR-24 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSNCAIP 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of SNCAIP

    Clone
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    OriGene ORF clones in mouse, rat for SNCAIP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SNCAIP (NM_005460)
    Sino Biological Human cDNA Clone for SNCAIP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNCAIP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNCAIP
    Sirion Biotech Customized lentivirus for stable overexpression of SNCAIP 
                         Customized lentivirus expression plasmids for stable overexpression of SNCAIP 

    Cell Line
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    Search LifeMap BioReagents cell lines for SNCAIP
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNCAIP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNCAIP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2Proteolysis Putative ubiquitin pathway
    Proteolysis Putative ubiquitin pathway0.97
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.61
    4CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    5Parkinsons Disease Pathway
    Parkinsons Disease Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SNCAIP
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Putative ubiquitin pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SNCAIP
        Parkinson's Disease Pathway

    2 GeneGo (Thomson Reuters) Pathways for SNCAIP
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Putative ubiquitin pathway

    2 BioSystems Pathways for SNCAIP
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway



    1         Kegg Pathway  (Kegg details for SNCAIP):
        Parkinson's disease


    SNCAIP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SNCAIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/37 Interacting proteins for SNCAIP (Q9Y6H52, 3 ENSP000002613684) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GET4Q7L5D62, 3MINT-64299 I2D: score=5 
    PTNP212462, 3MINT-64296 I2D: score=5 
    AGXTP215492, 3MINT-64297 I2D: score=4 
    AESQ081172, 3MINT-64298 I2D: score=3 
    NUDT21O438092, 3MINT-8264567 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0042417dopamine metabolic process IDA14506261
    GO:0046928regulation of neurotransmitter secretion IDA14506261
    GO:0090083regulation of inclusion body assembly IDA15603737

    SNCAIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SNCAIP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNCAIP (SNCAP)

    4 Novoseek inferred chemical compound relationships for SNCAIP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 64 1 15944382 (1)
    dopamine 20 6 14506261 (2), 18782602 (1), 17017531 (1), 12882651 (1) (see all 5)
    glycogen 3.01 3 14570287 (2), 16174773 (1)
    alanine 0 3 15944382 (1), 11784370 (1)

    Search CenterWatch for drugs/clinical trials and news about SNCAIP / SNCAP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNCAIP gene (2 alternative transcripts): 
    NM_001242935.1  NM_005460.2  

    Unigene Cluster for SNCAIP:

    Synuclein, alpha interacting protein
    Hs.426463  [show with all ESTs]
    Unigene Representative Sequence: BC040552
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000514467 ENST00000510658 ENST00000506272 ENST00000508681 ENST00000509154(uc010jcx.1)
    ENST00000261368(uc003ksw.1 uc010jcw.1) ENST00000512385 ENST00000514497
    ENST00000261367(uc003ksx.1) ENST00000510003(uc010jct.3) ENST00000509023
    ENST00000508017 ENST00000509652 ENST00000512146 ENST00000395469 ENST00000395466
    ENST00000515215 ENST00000513719(uc003ktc.1)

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate SNCAIP:
    hsa-miR-3910 hsa-miR-124 hsa-miR-149 hsa-miR-138 hsa-miR-506 hsa-miR-4299 hsa-miR-24 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidSNCAIP 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNCAIP
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNCAIP

    Additional mRNA sequence: 

    AB110788.1 AB110789.1 AB110790.1 AB110791.1 AB110792.1 AB110793.1 AB110794.1 AF076929.1 
    AK001617.1 AK021944.1 AK298882.1 AK299687.1 AK304646.1 AK310835.1 BC033743.1 BC040552.1 
    BC094759.1 DQ227317.1 

    14 DOTS entries:

    DT.95158231  DT.100748453  DT.120838413  DT.95158235  DT.102827916  DT.120838436  DT.100748454  DT.102827917 
    DT.120838450  DT.92425289  DT.97816165  DT.429865  DT.40236478  DT.75136137 

    24/77 AceView cDNA sequences (see all 77):

    AB110788 AB110791 AW168278 AF076929 AA973486 AK021944 AI989971 NM_005460 
    AB110792 AA586702 AB110794 BE502878 AI625011 AB110789 BE549992 BC033743 
    BM666046 AB110790 BE502809 BX117120 BM710945 BM908442 AK001617 CA447614 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SNCAIP (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                                                                                                                    
    SP2:                                                        -     -     -     -                 -     -     -                           
    SP3:                                            -           -     -     -                       -     -     -                           
    SP4:                                            -                             -                 -     -     -                           
    SP5:                                            -           -     -     -     -                 -     -     -                           


    ECgene alternative splicing isoforms for SNCAIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNCAIP expression in normal human tissues (normalized intensities)      SNCAIP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATCAGGTC
    SNCAIP Expression
    About this image


    SNCAIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             S-shaped Body
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem progenitor RP1-MV2-6
     
     Endothelium (Gastrointestinal Tract)    fully expand to see all 2 entries
             Human Umbilical Vein Endothelial Cells (HUVEC) (ScienceCell)   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   

    See SNCAIP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNCAIP

    SOURCE GeneReport for Unigene cluster: Hs.426463

    UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5
    Tissue specificity: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart
    and placenta

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SNCAIP gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sncaip1 , 5 synuclein, alpha interacting protein (synphilin)1, 5 85.41(n)1
    87.09(a)1
      18 (28.27 cM)5
    678471  NM_001199151.11  NP_001186080.11 
     527677095 
    chicken
    (Gallus gallus)
    Aves SNCAIP1 synuclein, alpha interacting protein 74.61(n)
    76.6(a)
      426796  XM_424409.3  XP_424409.3 
    lizard
    (Anolis carolinensis)
    Reptilia SNCAIP6
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343193.1(11912799-12044051)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1722911 zgc:172291 59.53(n)
    57.73(a)
      796993  NM_001113636.1  NP_001107108.1 


    ENSEMBL Gene Tree for SNCAIP (if available)
    TreeFam Gene Tree for SNCAIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SNCAIP gene
    2 SIMAP similar genes for SNCAIP using alignment to 13 protein entries:     SNCAP_HUMAN (see all proteins):
    RAI14    ANKRD42

    SNCAIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2795 SNPs in SNCAIP are shown (see all 2795)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375921,2,4
    C,Funknown1122063154(+) TCTTAC/TGCCAG 4 R C mis1 ese33Minor allele frequency- T:0.01NA EU 5743
    VAR_0653594
    ----see VAR_0653592 E Q mis40--------
    rs2020689031,2
    C--116883971(+) TAACCC/TTACTT 2 -- int10--------
    rs1389649151,2
    C--116943168(+) ATGAG-/TATA  
            
    TATAT
    2 -- int10--------
    rs1511346681,2
    C--116944625(+) AAAAA-/ACCACTC 2 -- int10--------
    rs1504619231,2
    C--116952052(+) TGACC-/AAAAAAA 2 -- int10--------
    rs347119141,2
    C--116955706(+) TAGTA-/GT    
       
    /GTGT
    GTGTG
    2 -- int10--------
    rs1379958531,2
    C--116955706(+) TAGTA-/GTG   
       TGTGT
    GTGTG
    2 -- int10--------
    rs125195841,2
    C,H--116971212(+) tatatT/Aatata 2 -- int11Minor allele frequency- A:0.00NA 2
    rs2017653771,2
    C--116971214(+) TATTA-/TATATATT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SNCAIP (121647049 - 121799914 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SNCAIP: --

    Human Gene Mutation Database (HGMD): SNCAIP
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603779    OMIM disorders: --

    UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5
  • 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. Note=Disease
    susceptibility may be associated with variations affecting the gene represented in this entry

  • 11 diseases for SNCAIP:    About MalaCards
    lrrk2-related parkinson disease    parkinson's disease    balanitis    lewy body dementia
    dysautonomia    multiple system atrophy    dementia    tremor
    brain disease    neuronitis    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for SNCAIP:
    Parkinson's disease     Lewy body dementia

    SNCAIP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for SNCAIP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease, autosomal dominant 83.5 4 18446261 (1), 18292964 (1), 12761037 (1), 15322916 (1)
    parkinson disease 82.3 42 17704840 (3), 14639662 (2), 16860793 (2), 10967135 (2) (see all 33)
    neurodegenerative diseases 66.9 2 11907799 (2), 17704840 (1)
    lewy body disease 63.3 2 18335262 (1), 17467279 (1)
    dementia 43.1 2 18335262 (1), 17467279 (1)
    alzheimers disease 6.07 2 17467279 (1)

    GeneTests: SNCAIP
    GeneReviews: SNCAIP
    Genetic Association Database (GAD): SNCAIP
    Human Genome Epidemiology (HuGE) Navigator: SNCAIP (5 documents)

    Export disorders for SNCAIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SNCAIP gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with SNCAIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic association study of synphilin-1 in idiopathic Parkinson's disease. (PubMed id 18366718)1, 2, 4, 9 Myhre R....Aasly J.O. (2008)
    2. Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. (PubMed id 10319874)1, 2, 3, 9 Engelender S.... Ross C.A. (1999)
    3. Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PubMed id 14506261)1, 2, 9 Nagano Y.... Matsumoto M. (2003)
    4. Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1. (PubMed id 12750386)1, 2, 9 Ito T.... Sobue G. (2003)
    5. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. (PubMed id 11590439)1, 2, 9 Chung K.K.K.... Dawson T.M. (2001)
    6. Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. (PubMed id 14639662)1, 4, 9 Maraganore D.M....Rocca W.A. (2003)
    7. Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients. (PubMed id 16595633)1, 2, 9 Eyal A....Engelender S. (2006)
    8. 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. (PubMed id 15064394)1, 2, 9 Liani E.... Engelender S. (2004)
    9. Organization of the human synphilin-1 gene, a candidate for Parkinson's disease. (PubMed id 10967135)1, 2, 9 Engelender S.... Ross C.A. (2000)
    10. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. (PubMed id 12761037)1, 2, 9 Marx F.P....Kruger R. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9627 HGNC: 11139 AceView: SNCAIP Ensembl:ENSG00000064692 euGenes: HUgn9627
    ECgene: SNCAIP Kegg: 9627 H-InvDB: SNCAIP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNCAIP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SNCAIP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNCAIP gene:
    Search GeneIP for patents involving SNCAIP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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