SNCAIP
Synphilin-1
Also known as: SNCAP_HUMAN, SYPH1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y6H5
- Gene
- SNCAIP
- Ensembl
- ENSG00000064692
- Chromosome
- 5
- Canonical length
- 919 aa
- Protein class
- Disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytoplasmic bodies
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
919 residues, UniProt reviewed canonical sequence.
>Q9Y6H5|SNCAIP
1 MEAPEYLDLD EIDFSDDISY SVTSLKTIPE LCRRCDTQNE DRSVSSSSWN CGISTLITNT
61 QKPTGIADVY SKFRPVKRVS PLKHQPETLE NNESDDQKNQ KVVEYQKGGE SDLGPQPQEL
121 GPGDGVGGPP GKSSEPSTSL GELEHYDLDM DEILDVPYIK SSQQLASFTK VTSEKRILGL
181 CTTINGLSGK ACSTGSSESS SSNMAPFCVL SPVKSPHLRK ASAVIHDQHK LSTEETEISP
241 PLVKCGSAYE PENQSKDFLN KTFSDPHGRK VEKTTPDCQL RAFHLQSSAA ESKPEEQVSG
301 LNRTSSQGPE ERSEYLKKVK SILNIVKEGQ ISLLPHLAAD NLDKIHDENG NNLLHIAASQ
361 GHAECLQHLT SLMGEDCLNE RNTEKLTPAG LAIKNGQLEC VRWMVSETEA IAELSCSKDF
421 PSLIHYAGCY GQEKILLWLL QFMQEQGISL DEVDQDGNSA VHVASQHGYL GCIQTLVEYG
481 ANVTMQNHAG EKPSQSAERQ GHTLCSRYLV VVETCMSLAS QVVKLTKQLK EQTVERVTLQ
541 NQLQQFLEAQ KSEGKSLPSS PSSPSSPASR KSQWKSPDAD DDSVAKSKPG VQEGIQVLGS
601 LSASSRARPK AKDEDSDKIL RQLLGKEISE NVCTQEKLSL EFQDAQASSR NSKKIPLEKR
661 ELKLARLRQL MQRSLSESDT DSNNSEDPKT TPVRKADRPR PQPIVESVES MDSAESLHLM
721 IKKHTLASGG RRFPFSIKAS KSLDGHSPSP TSESSEPDLE SQYPGSGSIP PNQPSGDPQQ
781 PSPDSTAAQK VATSPKSALK SPSSKRRTSQ NLKLRVTFEE PVVQMEQPSL ELNGEKDKDK
841 GRTLQRTSTS NESGDQLKRP FGAFRSIMET LSGNQNNNNN YQAANQLKTS TLPLTSLGRK
901 TDAKGNPASS ASKGKNKAALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SNCAIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- ovary: 25 nTPM
- endometrium: 18 nTPM
- cervix: 16 nTPM
- smooth muscle: 11 nTPM
- cerebral cortex: 6.1 nTPM
- blood vessel: 5.4 nTPM
Single-cell type
- ependymal cells: 432 nCPM
- pituitary stem cells: 298 nCPM
- choroid plexus epithelial cells: 257 nCPM
- endometrial stromal cells: 232 nCPM
- epicardial cells: 232 nCPM
- lymphatic endothelial cells: 217 nCPM
Immune cell
- basophil: 7.6 nTPM
- gdT-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- classical monocyte: 0 nTPM
Brain region
- choroid plexus: 26 nTPM
- basal ganglia: 21 nTPM
- cerebellum: 20 nTPM
- thalamus: 17 nTPM
- midbrain: 16 nTPM
- medulla oblongata: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SNCAIP.
Disease | AllUniProt
Conditions SNCAIP is implicated in, by any mechanism.
- Parkinson disease (PARK) MIM:168600
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.55
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.77
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell death
- dopamine metabolic process
- regulation of inclusion body assembly
- regulation of neurotransmitter secretion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ankyrin repeat
- Ankyrin repeat-containing domain superfamily
- Ankyrin repeats (3 copies)
- Synphilin-1, alpha-Synuclein-binding domain
- Synphilin-1
- Synphilin-1 alpha-Synuclein-binding domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SNCAIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SNCAIP as an antibody target. Whether an autoantibody or antibody against SNCAIP could matter depends on whether native SNCAIP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SNCAIP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SNCAIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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