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    Sncaip synuclein, alpha interacting protein (synphilin) [ Mus musculus (house mouse) ]

    Gene ID: 67847, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Sncaipprovided by MGI
    Official Full Name
    synuclein, alpha interacting protein (synphilin)provided by MGI
    Primary source
    MGI:MGI:1915097
    See related
    Ensembl:ENSMUSG00000024534 AllianceGenome:MGI:1915097
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SYPH1; 2810407O15Rik; 4933427B05Rik
    Summary
    Predicted to enable identical protein binding activity and ubiquitin protein ligase binding activity. Predicted to be involved in cell death and regulation of inclusion body assembly. Predicted to act upstream of or within dopamine metabolic process and regulation of neurotransmitter secretion. Predicted to be located in cytoplasmic ribonucleoprotein granule and nucleoplasm. Is expressed in several structures, including alimentary system; branchial arch; embryo mesenchyme; eye; and genitourinary system. Orthologous to human SNCAIP (synuclein alpha interacting protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E14 (RPKM 5.1), whole brain E14.5 (RPKM 5.0) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    18 D1; 18 28.27 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (52900872..53049007)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (52767811..52915935)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41725 Neighboring gene glycerol kinase-like 1 Neighboring gene STARR-seq mESC enhancer starr_44606 Neighboring gene STARR-seq mESC enhancer starr_44607 Neighboring gene predicted gene, 50457 Neighboring gene STARR-seq mESC enhancer starr_44608 Neighboring gene RAN guanine nucleotide release factor pseudogene Neighboring gene STARR-seq mESC enhancer starr_44612 Neighboring gene STARR-positive B cell enhancer ABC_E5658 Neighboring gene STARR-positive B cell enhancer ABC_E7586 Neighboring gene STARR-positive B cell enhancer ABC_E4250 Neighboring gene sorting nexin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Neurodegeneration and contralateral α-synuclein induction after intracerebral α-synuclein injections in the anterior olfactory nucleus of a Parkinson's disease A53T mouse model. Flores-Cuadrado A, et al. Acta Neuropathol Commun, 2019 Apr 15. PMID 30987677, Free PMC Article
    2. A53T-α-synuclein overexpression in murine locus coeruleus induces Parkinson's disease-like pathology in neurons and glia. Henrich MT, et al. Acta Neuropathol Commun, 2018 May 10. PMID 29747690, Free PMC Article
    3. Oligomer-prone E57K-mutant alpha-synuclein exacerbates integration deficit of adult hippocampal newborn neurons in transgenic mice. Regensburger M, et al. Brain Struct Funct, 2018 Apr. PMID 29124353, Free PMC Article
    4. DNA damage preceding dopamine neuron degeneration in A53T human α-synuclein transgenic mice. Wang D, et al. Biochem Biophys Res Commun, 2016 Dec 2. PMID 27818201
    5. Mulberry fruit ameliorates Parkinson's-disease-related pathology by reducing α-synuclein and ubiquitin levels in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine/probenecid model. Gu PS, et al. J Nutr Biochem, 2017 Jan. PMID 27741433

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Treadmill exercise reduces alpha-synuclein spreading via PPARalpha.
      Title: Treadmill exercise reduces α-synuclein spreading via PPARα.
    2. p21-activated kinase 4 controls the aggregation of alpha-synuclein by reducing the monomeric and aggregated forms of alpha-synuclein: involvement of the E3 ubiquitin ligase NEDD4-1.
      Title: p21-activated kinase 4 controls the aggregation of α-synuclein by reducing the monomeric and aggregated forms of α-synuclein: involvement of the E3 ubiquitin ligase NEDD4-1.
    3. Accumulation of Prion and Abnormal Prion Protein Induces Hyperphosphorylation of alpha-Synuclein in the Brain Tissues from Prion Diseases and in the Cultured Cells.
      Title: Accumulation of Prion and Abnormal Prion Protein Induces Hyperphosphorylation of α-Synuclein in the Brain Tissues from Prion Diseases and in the Cultured Cells.
    4. Preclinical Detection of Alpha-Synuclein Seeding Activity in the Colon of a Transgenic Mouse Model of Synucleinopathy by RT-QuIC.
      Title: Preclinical Detection of Alpha-Synuclein Seeding Activity in the Colon of a Transgenic Mouse Model of Synucleinopathy by RT-QuIC.
    5. Transglutaminase 2 Depletion Attenuates alpha-Synuclein Mediated Toxicity in Mice.
      Title: Transglutaminase 2 Depletion Attenuates α-Synuclein Mediated Toxicity in Mice.
    6. alpha-Synuclein Promotes Maturation of Immature Juxtaglomerular Neurons in the Mouse Olfactory Bulb.
      Title: α-Synuclein Promotes Maturation of Immature Juxtaglomerular Neurons in the Mouse Olfactory Bulb.
    7. Dopaminergic neuron injury in Parkinson's disease is mitigated by interfering lncRNA SNHG14 expression to regulate the miR-133b/ alpha-synuclein pathway.
      Title: Dopaminergic neuron injury in Parkinson's disease is mitigated by interfering lncRNA SNHG14 expression to regulate the miR-133b/ α-synuclein pathway.
    8. Study suggests alpha-synucleinopathy induction, via retrograde and contralateral projections, within the olfactory system of transgenic animals.
      Title: Neurodegeneration and contralateral α-synuclein induction after intracerebral α-synuclein injections in the anterior olfactory nucleus of a Parkinson's disease A53T mouse model.
    9. Intracytoplasmic Lewy bodies are primarily composed of the protein alpha-synuclein which increases in substantia nigra of Parkinson's disease.
      Title: Acupuncture Inhibits the Increase in Alpha-Synuclein by Modulating SGK1 in an MPTP Induced Parkinsonism Mouse Model.
    10. This study showed that A53T-alpha-synuclein overexpression in murine locus coeruleus induces Parkinson's disease-like pathology in neurons and glia.
      Title: A53T-α-synuclein overexpression in murine locus coeruleus induces Parkinson's disease-like pathology in neurons and glia.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107459

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell death ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within dopamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of inclusion body assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of neurotransmitter secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    synphilin-1
    Names
    alpha-synuclein-interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199151.2 → NP_001186080.1  synphilin-1 isoform 1

      See identical proteins and their annotated locations for NP_001186080.1

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      Consensus CDS
      CCDS57124.1
      UniProtKB/TrEMBL
      G5E848, Q3TVI3, Q4KMM4
      Related
      ENSMUSP00000137367.2, ENSMUST00000178678.8
      Conserved Domains (4) summary
      PHA02874
      Location:421 → 509
      PHA02874; ankyrin repeat protein; Provisional
      sd00045
      Location:348 → 381
      ANK; ANK repeat [structural motif]
      pfam16700
      Location:511 → 554
      SNCAIP_SNCA_bd; Synphilin-1 alpha-Synuclein-binding domain
      pfam12796
      Location:353 → 486
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001199153.2 → NP_001186082.1  synphilin-1 isoform 1

      See identical proteins and their annotated locations for NP_001186082.1

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      Consensus CDS
      CCDS57124.1
      UniProtKB/TrEMBL
      G5E848, Q3TVI3, Q4KMM4
      Related
      ENSMUSP00000025413.7, ENSMUST00000025413.14
      Conserved Domains (4) summary
      PHA02874
      Location:421 → 509
      PHA02874; ankyrin repeat protein; Provisional
      sd00045
      Location:348 → 381
      ANK; ANK repeat [structural motif]
      pfam16700
      Location:511 → 554
      SNCAIP_SNCA_bd; Synphilin-1 alpha-Synuclein-binding domain
      pfam12796
      Location:353 → 486
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001199154.2 → NP_001186083.1  synphilin-1 isoform 2

      See identical proteins and their annotated locations for NP_001186083.1

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      Consensus CDS
      CCDS37820.2
      UniProtKB/TrEMBL
      E9Q4E2, Q3V1N2
      Related
      ENSMUSP00000137549.2, ENSMUST00000178011.8
      Conserved Domains (5) summary
      cd00204
      Location:344 → 509
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:390 → 486
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:349 → 404
      Ank_4; Ankyrin repeats (many copies)
      pfam16700
      Location:511 → 554
      SNCAIP_SNCA_bd; Synphilin-1 alpha-Synuclein-binding domain
      sd00045
      Location:348 → 381
      ANK; ANK repeat [structural motif]

    4. NM_001403646.1 → NP_001390575.1  synphilin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      Related
      ENSMUSP00000136838.2, ENSMUST00000179625.8

    5. NM_001403647.1 → NP_001390576.1  synphilin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      UniProtKB/TrEMBL
      G5E848

    6. NM_001403648.1 → NP_001390577.1  synphilin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      UniProtKB/TrEMBL
      G5E848

    7. NM_026408.5 → NP_080684.3  synphilin-1 isoform 2

      See identical proteins and their annotated locations for NP_080684.3

      Status: VALIDATED

      Source sequence(s)
      AC121943, AC124178
      Consensus CDS
      CCDS37820.2
      UniProtKB/TrEMBL
      E9Q4E2, Q3V1N2
      Related
      ENSMUSP00000127189.3, ENSMUST00000163742.9
      Conserved Domains (5) summary
      cd00204
      Location:344 → 509
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:390 → 486
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:349 → 404
      Ank_4; Ankyrin repeats (many copies)
      pfam16700
      Location:511 → 554
      SNCAIP_SNCA_bd; Synphilin-1 alpha-Synuclein-binding domain
      sd00045
      Location:348 → 381
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      52900872..53049007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317971.2 → XP_017173460.1  synphilin-1 isoform X2

      UniProtKB/TrEMBL
      J3QNK1
      Conserved Domains (3) summary
      sd00045
      Location:361 → 393
      ANK; ANK repeat [structural motif]
      pfam16700
      Location:451 → 494
      SNCAIP_SNCA_bd; Synphilin-1 alpha-Synuclein-binding domain
      pfam12796
      Location:334 → 426
      Ank_2; Ankyrin repeats (3 copies)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99ME3.2 GenPept UniProtKB/Swiss-Prot:Q99ME3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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