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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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