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Aliases for SNCAIP Gene

Aliases for SNCAIP Gene

  • Synuclein Alpha Interacting Protein 2 3 5
  • SPH1 3 4
  • Synuclein, Alpha Interacting Protein 3
  • Alpha-Synuclein-Interacting Protein 4
  • Synphilin 2
  • SYPH1 3

External Ids for SNCAIP Gene

Previous GeneCards Identifiers for SNCAIP Gene

  • GC05P121389
  • GC05P122085
  • GC05P121678
  • GC05P121724
  • GC05P121675
  • GC05P116834

Summaries for SNCAIP Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for SNCAIP Gene

SNCAIP (Synuclein Alpha Interacting Protein) is a Protein Coding gene. Diseases associated with SNCAIP include Synucleinopathy and Dementia, Lewy Body. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Parkinsons Disease Pathway. GO annotations related to this gene include identical protein binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for SNCAIP Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNCAIP Gene

Genomics for SNCAIP Gene

Regulatory Elements for SNCAIP Gene

Enhancers for SNCAIP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNCAIP on UCSC Golden Path with GeneCards custom track

Promoters for SNCAIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNCAIP on UCSC Golden Path with GeneCards custom track

Genomic Location for SNCAIP Gene

Chromosome:
5
Start:
122,311,349 bp from pter
End:
122,464,219 bp from pter
Size:
152,871 bases
Orientation:
Plus strand

Genomic View for SNCAIP Gene

Genes around SNCAIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNCAIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNCAIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNCAIP Gene

Proteins for SNCAIP Gene

  • Protein details for SNCAIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6H5-SNCAP_HUMAN
    Recommended name:
    Synphilin-1
    Protein Accession:
    Q9Y6H5
    Secondary Accessions:
    • D3DSZ1
    • Q05BS1
    • Q1PSC2
    • Q49AC6
    • Q504U9
    • Q6L984
    • Q6L985
    • Q6L986
    • Q9HC59

    Protein attributes for SNCAIP Gene

    Size:
    919 amino acids
    Molecular mass:
    100409 Da
    Quaternary structure:
    • 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.
    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.

    Three dimensional structures from OCA and Proteopedia for SNCAIP Gene

    Alternative splice isoforms for SNCAIP Gene

neXtProt entry for SNCAIP Gene

Proteomics data for SNCAIP Gene at MOPED

Post-translational modifications for SNCAIP Gene

  • 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.
  • Ubiquitination at Lys 261
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNCAIP Gene

Domains & Families for SNCAIP Gene

Gene Families for SNCAIP Gene

Protein Domains for SNCAIP Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6H5

UniProtKB/Swiss-Prot:

SNCAP_HUMAN :
  • Contains 6 ANK repeats.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with SNCAIP: view

Function for SNCAIP Gene

Molecular function for SNCAIP Gene

GENATLAS Biochemistry:
synphilin,alpha synuclein interacting protein expressed in brain,including substantia nigra,potentially involved in the formation of Lewy bodies and Parkinson disease
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SNCAIP: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SNCAIP Gene

Localization for SNCAIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNCAIP Gene

Cytoplasm. Note=Detected in cytoplasmic inclusion bodies, together with SNCA.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNCAIP Gene COMPARTMENTS Subcellular localization image for SNCAIP gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SNCAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SNCAIP: view

Pathways & Interactions for SNCAIP Gene

genes like me logo Genes that share pathways with SNCAIP: view

Pathways by source for SNCAIP Gene

2 Reactome pathways for SNCAIP Gene
1 KEGG pathway for SNCAIP Gene
1 Qiagen pathway for SNCAIP Gene

SIGNOR curated interactions for SNCAIP Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SNCAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042417 dopamine metabolic process IDA 14506261
GO:0090083 regulation of inclusion body assembly IDA 15603737
genes like me logo Genes that share ontologies with SNCAIP: view

Drugs & Compounds for SNCAIP Gene

(2) Drugs for SNCAIP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SNCAIP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNCAIP: view

Transcripts for SNCAIP Gene

Unigene Clusters for SNCAIP Gene

Synuclein, alpha interacting protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNCAIP Gene

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: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - - - -
SP9: - -
SP10:
SP11:

Relevant External Links for SNCAIP Gene

GeneLoc Exon Structure for
SNCAIP
ECgene alternative splicing isoforms for
SNCAIP

Expression for SNCAIP Gene

mRNA expression in normal human tissues for SNCAIP Gene

mRNA differential expression in normal tissues according to GTEx for SNCAIP Gene

This gene is overexpressed in Ovary (x5.2) and Uterus (x4.2).

Protein differential expression in normal tissues from HIPED for SNCAIP Gene

This gene is overexpressed in Urinary Bladder (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SNCAIP Gene



SOURCE GeneReport for Unigene cluster for SNCAIP Gene Hs.426463

mRNA Expression by UniProt/SwissProt for SNCAIP Gene

Q9Y6H5-SNCAP_HUMAN
Tissue specificity: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.
genes like me logo Genes that share expression patterns with SNCAIP: view

Protein tissue co-expression partners for SNCAIP Gene

Primer Products

Orthologs for SNCAIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNCAIP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNCAIP 35
  • 87.31 (n)
  • 89.64 (a)
SNCAIP 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNCAIP 35
  • 88.07 (n)
  • 92.01 (a)
SNCAIP 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sncaip 35
  • 85.41 (n)
  • 87.09 (a)
Sncaip 16
Sncaip 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sncaip 35
  • 84.72 (n)
  • 86.18 (a)
oppossum
(Monodelphis domestica)
Mammalia SNCAIP 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNCAIP 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNCAIP 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNCAIP 35
  • 74.28 (n)
  • 76.38 (a)
SNCAIP 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNCAIP 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sncaip 35
  • 68.64 (n)
  • 71.4 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:172291 35
  • 59.31 (n)
  • 58.35 (a)
SNCAIP 36
  • 51 (a)
OneToOne
Species with no ortholog for SNCAIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNCAIP Gene

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

Paralogs for SNCAIP Gene

genes like me logo Genes that share paralogs with SNCAIP: view

No data available for Paralogs for SNCAIP Gene

Variants for SNCAIP Gene

Sequence variations from dbSNP and Humsavar for SNCAIP Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_025667 -
rs6867105 - 122,423,441(+) TGAAG(A/G)AACCG intron-variant, nc-transcript-variant, reference, missense
rs56285021 - 122,422,868(+) AACAG(C/T)TTCTA intron-variant, nc-transcript-variant, reference, missense
VAR_065359 -
rs892558 -- 122,373,400(-) TAAAT(C/T)CACTA intron-variant

Variation tolerance for SNCAIP Gene

Residual Variation Intolerance Score: 45.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNCAIP Gene

Human Gene Mutation Database (HGMD)
SNCAIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SNCAIP Gene

Disorders for SNCAIP Gene

MalaCards: The human disease database

(7) MalaCards diseases for SNCAIP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
synucleinopathy
  • alpha synucleinopathies
dementia, lewy body
  • lewy body dementia
snca-related parkinson disease
  • lewy body parkinsonism
dysautonomia
parkinson disease 1
  • autosomal dominant parkinson disease 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SNCAP_HUMAN
  • 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. {ECO:0000269 PubMed:12761037}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Relevant External Links for SNCAIP

Genetic Association Database (GAD)
SNCAIP
Human Genome Epidemiology (HuGE) Navigator
SNCAIP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNCAIP
genes like me logo Genes that share disorders with SNCAIP: view

No data available for Genatlas for SNCAIP Gene

Publications for SNCAIP Gene

  1. Genetic association study of synphilin-1 in idiopathic Parkinson's disease. (PMID: 18366718) Myhre R. … Aasly J.O. (BMC Med. Genet. 2008) 3 4 23 48 67
  2. Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. (PMID: 10319874) Engelender S. … Ross C.A. (Nat. Genet. 1999) 2 3 23
  3. Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. (PMID: 19730898) Soehn A.S. … Riess O. (Neurogenetics 2010) 3 23
  4. Interaction with synphilin-1 promotes inclusion formation of alpha- synuclein: mechanistic insights and pathological implication. (PMID: 19762560) Xie Y.Y. … Hu H.Y. (FASEB J. 2010) 3 23
  5. Synphilin-1 exhibits trophic and protective effects against Rotenone toxicity. (PMID: 19857556) Li X. … Smith W.W. (Neuroscience 2010) 3 23

Products for SNCAIP Gene

Sources for SNCAIP Gene

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