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Aliases for SNCAIP Gene

Aliases for SNCAIP Gene

  • Synuclein Alpha Interacting Protein 2 3 5
  • SPH1 3 4
  • Alpha-Synuclein-Interacting Protein 4
  • Synphilin-1 3
  • 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 Snca-Related Parkinson Disease. Among its related pathways are Proteolysis_Putative ubiquitin pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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

Additional gene information for SNCAIP Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H122311 0.9 ENCODE 7.7 +0.9 937 2 PKNOX1 ZSCAN4 FEZF1 GLI4 ZNF121 GLIS2 EGR2 SP3 REST TSHZ1 SNCAIP ENSG00000272139 ENSG00000249621
GH05H122484 0.4 ENCODE 6.1 +174.5 174525 2 HNF4A MGC32805 SNCAIP GC05M122494
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000185954 951 1801 PKNOX1 ZSCAN4 FEZF1 GLI4 ZNF121 GLIS2 EGR2 SP3 ZNF680 REST

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 PRKN. 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 PRKN result in the formation of Lewy body-like. ubiquitin-positive cytosolic inclusions. SNCAIP isoform 2 is particularly aggregation-prone. Familial mutations in PRKN 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 PRKN 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

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 Lys261
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SNCAIP Gene

Domains & Families for SNCAIP Gene

Gene Families for SNCAIP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SNCAIP Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SNCAIP Gene

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.

Phenotypes From GWAS Catalog for SNCAIP Gene

Gene Ontology (GO) - Molecular Function for SNCAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10319874
GO:0031625 ubiquitin protein ligase binding IPI 15728840
GO:0042802 identical protein binding IPI 19762560
genes like me logo Genes that share ontologies with SNCAIP: view
genes like me logo Genes that share phenotypes with SNCAIP: view

Human Phenotype Ontology for SNCAIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNCAIP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNCAIP gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNCAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 14506261
GO:0005829 cytosol TAS --
GO:0008021 synaptic vesicle TAS 21563316
GO:0036464 cytoplasmic ribonucleoprotein granule IDA --
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:0008219 cell death IDA 16595633
GO:0042417 dopamine metabolic process IDA 14506261
GO:0044267 cellular protein metabolic process TAS --
GO:0046928 regulation of neurotransmitter secretion 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SNCAIP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SNCAIP Gene

NURSA nuclear receptor signaling pathways regulating expression of SNCAIP Gene:

SNCAIP

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.

Evidence on tissue expression from TISSUES for SNCAIP Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with SNCAIP: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SNCAIP Gene

Orthologs for SNCAIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNCAIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNCAIP 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNCAIP 34 33
  • 88.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SNCAIP 34 33
  • 87.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sncaip 33 16 34
  • 85.41 (n)
rat
(Rattus norvegicus)
Mammalia Sncaip 33
  • 84.72 (n)
oppossum
(Monodelphis domestica)
Mammalia SNCAIP 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNCAIP 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNCAIP 34 33
  • 74.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNCAIP 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sncaip 33
  • 68.64 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:172291 33
  • 59.31 (n)
SNCAIP 34
  • 51 (a)
OneToOne
Species where no ortholog for SNCAIP was found in the sources mined by GeneCards:
  • 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
rs11326 Likely benign 122,463,810(-) AAAAC(A/G)TACAT intron-variant, nc-transcript-variant, utr-variant-3-prime
rs139256839 Likely benign 122,450,978(+) AGAGT(A/G)TGGAC intron-variant, nc-transcript-variant, reference, missense
rs140850272 Likely benign 122,451,264(+) CAAGC(A/G/T)TAGGA intron-variant, nc-transcript-variant, reference, missense
rs149180835 Likely benign 122,463,566(+) GAACT(C/G)TTCTT intron-variant, nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs149915358 Likely benign 122,403,816(+) AAGAC(A/G)ATCCC nc-transcript-variant, reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for SNCAIP Gene

Variant ID Type Subtype PubMed ID
esv3606590 CNV loss 21293372
nsv1073492 CNV deletion 25765185
nsv1140364 OTHER inversion 24896259

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNCAIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNCAIP Gene

Disorders for SNCAIP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
synucleinopathy
  • alpha synucleinopathies
snca-related parkinson disease
  • lewy body parkinsonism
dementia, lewy body
  • lewy body dementia
parkinson disease, late-onset
  • parkinson disease
dementia
  • presenile dementia
- 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 JO (BMC medical genetics 2008) 3 4 22 45 60
  2. Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. (PMID: 10319874) Engelender S … Ross CA (Nature genetics 1999) 2 3 4 22 60
  3. Interaction with synphilin-1 promotes inclusion formation of alpha-synuclein: mechanistic insights and pathological implication. (PMID: 19762560) Xie YY … Hu HY (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 3 4 22 60
  4. Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation. (PMID: 19224863) Szargel R … Engelender S (The Journal of biological chemistry 2009) 3 4 22 60
  5. Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients. (PMID: 16595633) Eyal A … Engelender S (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 60

Products for SNCAIP Gene

Sources for SNCAIP Gene

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