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Protein

Synphilin-1

Gene

SNCAIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 SIAH1.2 Publications

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • identical protein binding Source: IntAct
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-977225 Amyloid fiber formation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y6H5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Synphilin-1
Short name:
Sph1
Alternative name(s):
Alpha-synuclein-interacting protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SNCAIP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000064692.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11139 SNCAIP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603779 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6H5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Parkinson disease (PARK)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:168600

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi79V → N: Decreases interaction with SIAH1 and formation of cytoplasmic inclusion bodies; when associated with N-81. 1 Publication1
Mutagenesisi81P → N: Decreases interaction with SIAH1 and formation of cytoplasmic inclusion bodies; when associated with N-79. 1 Publication1

Keywords - Diseasei

Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNET

More...
DisGeNETi
9627

MalaCards human disease database

More...
MalaCardsi
SNCAIP
MIMi168600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000064692

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35987

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1926494

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SNCAIP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
205831000

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000670681 – 919Synphilin-1Add BLAST919

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.3 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y6H5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y6H5

PeptideAtlas

More...
PeptideAtlasi
Q9Y6H5

PRoteomics IDEntifications database

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PRIDEi
Q9Y6H5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86680
86681 [Q9Y6H5-2]
86682 [Q9Y6H5-3]
86683 [Q9Y6H5-4]
86684 [Q9Y6H5-5]
86685 [Q9Y6H5-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y6H5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y6H5

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q9Y6H5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and placenta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000064692 Expressed in 197 organ(s), highest expression level in forebrain

CleanEx database of gene expression profiles

More...
CleanExi
HS_SNCAIP

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y6H5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y6H5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA064687

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.Curated8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114986, 35 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y6H5

Database of interacting proteins

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DIPi
DIP-61155N

Protein interaction database and analysis system

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IntActi
Q9Y6H5, 14 interactors

Molecular INTeraction database

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MINTi
Q9Y6H5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261368

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1919
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y6H5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y6H5

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y6H5

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati349 – 380ANK 1Add BLAST32
Repeati384 – 413ANK 2Add BLAST30
Repeati419 – 448ANK 3Add BLAST30
Repeati456 – 485ANK 4Add BLAST30
Repeati603 – 632ANK 5Add BLAST30
Repeati699 – 729ANK 6Add BLAST31

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili515 – 552Sequence analysisAdd BLAST38

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001485

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG061375

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6H5

KEGG Orthology (KO)

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KOi
K04558

Identification of Orthologs from Complete Genome Data

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OMAi
QIMQRSL

Database of Orthologous Groups

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OrthoDBi
EOG091G0QOU

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y6H5

TreeFam database of animal gene trees

More...
TreeFami
TF329095

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00204 ANK, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR040133 SNCAIP
IPR032027 SNCAIP_SNCA-bd

The PANTHER Classification System

More...
PANTHERi
PTHR22882 PTHR22882, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 2 hits
PF16700 SNCAIP_SNCA_bd, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6H5-1) [UniParc]FASTAAdd to basket
Also known as: 1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEAPEYLDLD EIDFSDDISY SVTSLKTIPE LCRRCDTQNE DRSVSSSSWN
60 70 80 90 100
CGISTLITNT QKPTGIADVY SKFRPVKRVS PLKHQPETLE NNESDDQKNQ
110 120 130 140 150
KVVEYQKGGE SDLGPQPQEL GPGDGVGGPP GKSSEPSTSL GELEHYDLDM
160 170 180 190 200
DEILDVPYIK SSQQLASFTK VTSEKRILGL CTTINGLSGK ACSTGSSESS
210 220 230 240 250
SSNMAPFCVL SPVKSPHLRK ASAVIHDQHK LSTEETEISP PLVKCGSAYE
260 270 280 290 300
PENQSKDFLN KTFSDPHGRK VEKTTPDCQL RAFHLQSSAA ESKPEEQVSG
310 320 330 340 350
LNRTSSQGPE ERSEYLKKVK SILNIVKEGQ ISLLPHLAAD NLDKIHDENG
360 370 380 390 400
NNLLHIAASQ GHAECLQHLT SLMGEDCLNE RNTEKLTPAG LAIKNGQLEC
410 420 430 440 450
VRWMVSETEA IAELSCSKDF PSLIHYAGCY GQEKILLWLL QFMQEQGISL
460 470 480 490 500
DEVDQDGNSA VHVASQHGYL GCIQTLVEYG ANVTMQNHAG EKPSQSAERQ
510 520 530 540 550
GHTLCSRYLV VVETCMSLAS QVVKLTKQLK EQTVERVTLQ NQLQQFLEAQ
560 570 580 590 600
KSEGKSLPSS PSSPSSPASR KSQWKSPDAD DDSVAKSKPG VQEGIQVLGS
610 620 630 640 650
LSASSRARPK AKDEDSDKIL RQLLGKEISE NVCTQEKLSL EFQDAQASSR
660 670 680 690 700
NSKKIPLEKR ELKLARLRQL MQRSLSESDT DSNNSEDPKT TPVRKADRPR
710 720 730 740 750
PQPIVESVES MDSAESLHLM IKKHTLASGG RRFPFSIKAS KSLDGHSPSP
760 770 780 790 800
TSESSEPDLE SQYPGSGSIP PNQPSGDPQQ PSPDSTAAQK VATSPKSALK
810 820 830 840 850
SPSSKRRTSQ NLKLRVTFEE PVVQMEQPSL ELNGEKDKDK GRTLQRTSTS
860 870 880 890 900
NESGDQLKRP FGAFRSIMET LSGNQNNNNN YQAANQLKTS TLPLTSLGRK
910
TDAKGNPASS ASKGKNKAA
Length:919
Mass (Da):100,409
Last modified:July 22, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i55C5316F250D0480
GO
Isoform 2 (identifier: Q9Y6H5-2) [UniParc]FASTAAdd to basket
Also known as: Synphilin-1A

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.
     367-394: QHLTSLMGEDCLNERNTEKLTPAGLAIK → MTYLIQSHHSRRSQNCAEDVIRKTKTDQ
     919-919: A → EMYSSCINLSSNMLIEEHLCNDTRHNDINRKMKKSYSIKHIAEPESKELFL

Show »
Length:603
Mass (Da):66,646
Checksum:i3C41F69D861CE493
GO
Isoform 3 (identifier: Q9Y6H5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-19: S → SDNRSQGNRLQKLGLEDTDREDAMGFGSHRAKLTVVAALGACHCPENE
     919-919: A → EMYSSCINLSSNMLIEEHLCNDTRHNDINRKMKKSYSIKHIAEPESKELFL

Show »
Length:1,016
Mass (Da):111,455
Checksum:i6EC840B66BA8217D
GO
Isoform 4 (identifier: Q9Y6H5-4) [UniParc]FASTAAdd to basket
Also known as: 1b

The sequence of this isoform differs from the canonical sequence as follows:
     335-394: Missing.

Show »
Length:859
Mass (Da):93,930
Checksum:i949D53FF98FCE6E6
GO
Isoform 5 (identifier: Q9Y6H5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-366: Missing.
     367-394: QHLTSLMGEDCLNERNTEKLTPAGLAIK → MTYLIQSHHSRRSQNCAEDVIRKTKTDQ

Show »
Length:553
Mass (Da):60,693
Checksum:iEAEBC23FCD35545A
GO
Isoform 6 (identifier: Q9Y6H5-6) [UniParc]FASTAAdd to basket
Also known as: 1c

The sequence of this isoform differs from the canonical sequence as follows:
     19-19: S → SDNRSQGNRLQKLGLEDTDREDAMGFGSHRAKLTVVAALGACHCPENE
     476-541: LVEYGANVTM...QTVERVTLQN → RLKIQGTWNG...NQLPETKSSY
     542-919: Missing.

Show »
Length:588
Mass (Da):64,469
Checksum:iEBF343E479576255
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9G8D6R9G8_HUMAN
Synphilin-1
SNCAIP
858Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q6L983Q6L983_HUMAN
Synphilin-1d protein
SNCAIP
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q6L981Q6L981_HUMAN
Synphilin-1f protein
SNCAIP
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q6L982Q6L982_HUMAN
Synphilin-1e protein
SNCAIP
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q6L980Q6L980_HUMAN
Synphilin-1g protein
SNCAIP
62Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RD29D6RD29_HUMAN
Synphilin-1
SNCAIP
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RFL3D6RFL3_HUMAN
Synphilin-1
SNCAIP
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBR2D6RBR2_HUMAN
Synphilin-1
SNCAIP
98Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REC1D6REC1_HUMAN
Synphilin-1
SNCAIP
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHX3D6RHX3_HUMAN
Synphilin-1
SNCAIP
14Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti188S → F in AAH40552 (PubMed:15489334).Curated1
Sequence conflicti614E → G in AAH40552 (PubMed:15489334).Curated1
Sequence conflicti696A → G in AAH40552 (PubMed:15489334).Curated1
Sequence conflicti712D → G in AAH94759 (PubMed:15489334).Curated1
Sequence conflicti801S → P in AAH33743 (PubMed:15489334).Curated1
Sequence conflicti919A → E in AAH94759 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06535844V → A3 PublicationsCorresponds to variant dbSNP:rs56285021Ensembl.1
Natural variantiVAR_048312235E → G. Corresponds to variant dbSNP:rs6867105Ensembl.1
Natural variantiVAR_025667621R → C Found in patients with symptoms of Parkinson disease; unknown pathological significance; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type (wt) protein when subjected to proteasomal inhibition; C-621 transfected cells are more susceptible to staurosporine-induced cell death than cells expressin wt protein. 2 PublicationsCorresponds to variant dbSNP:rs28937592EnsemblClinVar.1
Natural variantiVAR_065359706E → Q1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0388391 – 366Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST366
Alternative sequenceiVSP_03884019S → SDNRSQGNRLQKLGLEDTDR EDAMGFGSHRAKLTVVAALG ACHCPENE in isoform 3 and isoform 6. 2 Publications1
Alternative sequenceiVSP_038841335 – 394Missing in isoform 4. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_038842367 – 394QHLTS…GLAIK → MTYLIQSHHSRRSQNCAEDV IRKTKTDQ in isoform 2 and isoform 5. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_038843476 – 541LVEYG…VTLQN → RLKIQGTWNGSETCLFTHHF SSYPPISSGLQCQGQEGVLF IPDQVGAATNKQVLFQNQLP ETKSSY in isoform 6. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_038844542 – 919Missing in isoform 6. 1 PublicationAdd BLAST378
Alternative sequenceiVSP_038845919A → EMYSSCINLSSNMLIEEHLC NDTRHNDINRKMKKSYSIKH IAEPESKELFL in isoform 2 and isoform 3. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF076929 mRNA Translation: AAD30362.1
AF167306
, AF167301, AF167302, AF167303, AF167304, AF167305 Genomic DNA Translation: AAG17478.1
DQ227317 mRNA Translation: ABB51162.1
CH471086 Genomic DNA Translation: EAW48889.1
AB110788 mRNA Translation: BAD19017.1
AB110789 mRNA Translation: BAD19018.1
AB110790 mRNA Translation: BAD19019.1
CH471086 Genomic DNA Translation: EAW48890.1
BC033743 mRNA Translation: AAH33743.1
BC040552 mRNA Translation: AAH40552.1
BC094759 mRNA Translation: AAH94759.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4131.1 [Q9Y6H5-1]
CCDS58964.1 [Q9Y6H5-2]
CCDS78054.1 [Q9Y6H5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001229864.1, NM_001242935.2 [Q9Y6H5-2]
NP_001295029.1, NM_001308100.1 [Q9Y6H5-3]
NP_001295034.1, NM_001308105.1 [Q9Y6H5-4]
NP_001295035.1, NM_001308106.1
NP_001295036.1, NM_001308107.1 [Q9Y6H5-5]
NP_001295037.1, NM_001308108.1
NP_001295038.1, NM_001308109.1
NP_005451.2, NM_005460.3 [Q9Y6H5-1]
XP_011542039.1, XM_011543737.2 [Q9Y6H5-3]
XP_011542040.1, XM_011543738.2 [Q9Y6H5-3]
XP_011542041.1, XM_011543739.1 [Q9Y6H5-3]
XP_011542043.1, XM_011543741.2 [Q9Y6H5-3]
XP_011542045.1, XM_011543743.2 [Q9Y6H5-3]
XP_016865567.1, XM_017010078.1 [Q9Y6H5-3]
XP_016865571.1, XM_017010082.1 [Q9Y6H5-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.426463

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261367; ENSP00000261367; ENSG00000064692 [Q9Y6H5-3]
ENST00000261368; ENSP00000261368; ENSG00000064692 [Q9Y6H5-1]
ENST00000379538; ENSP00000368854; ENSG00000064692 [Q9Y6H5-2]
ENST00000395469; ENSP00000378852; ENSG00000064692 [Q9Y6H5-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9627

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9627

UCSC genome browser

More...
UCSCi
uc003ksw.2 human [Q9Y6H5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF076929 mRNA Translation: AAD30362.1
AF167306
, AF167301, AF167302, AF167303, AF167304, AF167305 Genomic DNA Translation: AAG17478.1
DQ227317 mRNA Translation: ABB51162.1
CH471086 Genomic DNA Translation: EAW48889.1
AB110788 mRNA Translation: BAD19017.1
AB110789 mRNA Translation: BAD19018.1
AB110790 mRNA Translation: BAD19019.1
CH471086 Genomic DNA Translation: EAW48890.1
BC033743 mRNA Translation: AAH33743.1
BC040552 mRNA Translation: AAH40552.1
BC094759 mRNA Translation: AAH94759.1
CCDSiCCDS4131.1 [Q9Y6H5-1]
CCDS58964.1 [Q9Y6H5-2]
CCDS78054.1 [Q9Y6H5-3]
RefSeqiNP_001229864.1, NM_001242935.2 [Q9Y6H5-2]
NP_001295029.1, NM_001308100.1 [Q9Y6H5-3]
NP_001295034.1, NM_001308105.1 [Q9Y6H5-4]
NP_001295035.1, NM_001308106.1
NP_001295036.1, NM_001308107.1 [Q9Y6H5-5]
NP_001295037.1, NM_001308108.1
NP_001295038.1, NM_001308109.1
NP_005451.2, NM_005460.3 [Q9Y6H5-1]
XP_011542039.1, XM_011543737.2 [Q9Y6H5-3]
XP_011542040.1, XM_011543738.2 [Q9Y6H5-3]
XP_011542041.1, XM_011543739.1 [Q9Y6H5-3]
XP_011542043.1, XM_011543741.2 [Q9Y6H5-3]
XP_011542045.1, XM_011543743.2 [Q9Y6H5-3]
XP_016865567.1, XM_017010078.1 [Q9Y6H5-3]
XP_016865571.1, XM_017010082.1 [Q9Y6H5-1]
UniGeneiHs.426463

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KESNMR-A512-557[»]
ProteinModelPortaliQ9Y6H5
SMRiQ9Y6H5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114986, 35 interactors
CORUMiQ9Y6H5
DIPiDIP-61155N
IntActiQ9Y6H5, 14 interactors
MINTiQ9Y6H5
STRINGi9606.ENSP00000261368

Chemistry databases

ChEMBLiCHEMBL1926494

PTM databases

iPTMnetiQ9Y6H5
PhosphoSitePlusiQ9Y6H5

Polymorphism and mutation databases

BioMutaiSNCAIP
DMDMi205831000

Proteomic databases

EPDiQ9Y6H5
PaxDbiQ9Y6H5
PeptideAtlasiQ9Y6H5
PRIDEiQ9Y6H5
ProteomicsDBi86680
86681 [Q9Y6H5-2]
86682 [Q9Y6H5-3]
86683 [Q9Y6H5-4]
86684 [Q9Y6H5-5]
86685 [Q9Y6H5-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261367; ENSP00000261367; ENSG00000064692 [Q9Y6H5-3]
ENST00000261368; ENSP00000261368; ENSG00000064692 [Q9Y6H5-1]
ENST00000379538; ENSP00000368854; ENSG00000064692 [Q9Y6H5-2]
ENST00000395469; ENSP00000378852; ENSG00000064692 [Q9Y6H5-6]
GeneIDi9627
KEGGihsa:9627
UCSCiuc003ksw.2 human [Q9Y6H5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9627
DisGeNETi9627
EuPathDBiHostDB:ENSG00000064692.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SNCAIP

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0005121
HIX0018508
HGNCiHGNC:11139 SNCAIP
HPAiHPA064687
MalaCardsiSNCAIP
MIMi168600 phenotype
603779 gene
neXtProtiNX_Q9Y6H5
OpenTargetsiENSG00000064692
PharmGKBiPA35987

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000001485
HOVERGENiHBG061375
InParanoidiQ9Y6H5
KOiK04558
OMAiQIMQRSL
OrthoDBiEOG091G0QOU
PhylomeDBiQ9Y6H5
TreeFamiTF329095

Enzyme and pathway databases

ReactomeiR-HSA-977225 Amyloid fiber formation
SIGNORiQ9Y6H5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SNCAIP human
EvolutionaryTraceiQ9Y6H5

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SNCAIP

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9627
PMAP-CutDBiQ9Y6H5

Protein Ontology

More...
PROi
PR:Q9Y6H5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000064692 Expressed in 197 organ(s), highest expression level in forebrain
CleanExiHS_SNCAIP
ExpressionAtlasiQ9Y6H5 baseline and differential
GenevisibleiQ9Y6H5 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR040133 SNCAIP
IPR032027 SNCAIP_SNCA-bd
PANTHERiPTHR22882 PTHR22882, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF16700 SNCAIP_SNCA_bd, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSNCAP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6H5
Secondary accession number(s): D3DSZ1
, Q05BS1, Q1PSC2, Q49AC6, Q504U9, Q6L984, Q6L985, Q6L986, Q9HC59
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: July 22, 2008
Last modified: December 5, 2018
This is version 164 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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