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

Summary

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 dopamine metabolic process; regulation of inclusion body assembly; 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; cerebral cortex; genitourinary system; and ureter. Orthologous to human SNCAIP (synuclein alpha interacting protein). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Treadmill exercise reduces alpha-synuclein spreading via PPARalpha.
Title: Treadmill exercise reduces α-synuclein spreading via PPARα.
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.
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.
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.
Transglutaminase 2 Depletion Attenuates alpha-Synuclein Mediated Toxicity in Mice.
Title: Transglutaminase 2 Depletion Attenuates α-Synuclein Mediated Toxicity in Mice.
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.
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.
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.
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.
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)

Endonuclease-mediated (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB104594 (e-PCR)
- UniSTS:186129

D18Mit53 (e-PCR), detects polymorphism
- UniSTS:128274

48.MMHAP79FLH6.seq (e-PCR)
- UniSTS:124701

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity 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
enables ubiquitin protein ligase binding	ISS Inferred from Sequence or Structural Similarity 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 dopamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of inclusion body assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of inclusion body assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of neurotransmitter secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity 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)

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)
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)
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]
NM_001403646.1 → NP_001390575.1 synphilin-1 isoform 3

Status: VALIDATED

Source sequence(s)

AC121943, AC124178

Related

ENSMUSP00000136838.2, ENSMUST00000179625.8
NM_001403647.1 → NP_001390576.1 synphilin-1 isoform 1

Status: VALIDATED

Source sequence(s)

AC121943, AC124178

UniProtKB/TrEMBL

G5E848
NM_001403648.1 → NP_001390577.1 synphilin-1 isoform 1

Status: VALIDATED

Source sequence(s)

AC121943, AC124178

UniProtKB/TrEMBL

G5E848
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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

52900872..53049007

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)