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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SNCAIP Gene

protein-coding GIFtS: 63
GCID: GC05P121675

synuclein, alpha interacting protein

Explore 12 diseases affiliated with
SNCAIP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Synuclein, Alpha Interacting Protein¹ ²
SYPH1¹ ²
Alpha-Synuclein-Interacting Protein² ³
Sph1² ³
Synphilin-1¹

External Ids:	HGNC: 11139¹	Entrez Gene: 9627²	Ensembl: ENSG00000064692⁷	OMIM: 603779⁵	UniProtKB: Q9Y6H5³

Export aliases for SNCAIP gene to outside databases

Previous GC identifers: GC05P121389 GC05P122085 GC05P121678 GC05P121724 GC05P116834

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNCAIP:

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. Alternatively spliced transcript variants encoding different isoforms of

this gene have been described, but the full-length nature of only two have been determined. (provided by RefSeq, Jul

2011)

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5

Function: 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

Gene Wiki entry for SNCAIP

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SNCAIP gene promoter:
NF-AT4 NF-AT2 Nkx6-1 p53 NF-AT3 Nkx2-5 Ik-3 NF-AT1 NF-AT
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SNCAIP promoter sequence

Search SABiosciences Chromatin IP Primers for SNCAIP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNCAIP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.2 Ensembl cytogenetic band: 5q23.2 HGNC cytogenetic band: 5q23.2

SNCAIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNCAIP gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P121675: view genomic region (about GC identifiers)

Start:	121,647,049 bp from pter	End:	121,799,914 bp from pter
Size:	152,866 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5 (See protein sequence)

Recommended Name: Synphilin-1

Size: 919 amino acids; 100409 Da

Subunit: Homodimer (Probable). Heterodimer of isoform 1 and isoform 2 (Probable). Interacts with SIAH1, SIAH2, SNCA,

RNF19A AND PARK2. Isoform 2 has a strong tendency to form aggregates and can sequester isoform 1

Subcellular location: Cytoplasm. Note=Detected in cytoplasmic inclusion bodies, together with SNCA

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 PARK2 result in the

formation of Lewy body-like. ubiquitin-positive cytosolic inclusions. SNCAIP isoform 2 is particularly

aggregatation-prone. Familial mutations in PARK2 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 PARK2 and SNCA in a common pathogenic mechanism through their interaction with SNCAIP

1 PDB 3D structure from and Proteopedia for SNCAIP:

2KES (3D)

Secondary accessions: D3DSZ1 Q05BS1 Q1PSC2 Q49AC6 Q504U9 Q6L984 Q6L985 Q6L986 Q9HC59

Alternative splicing: 6 isoforms: Q9Y6H5-1 Q9Y6H5-2 Q9Y6H5-3 Q9Y6H5-4 Q9Y6H5-5 Q9Y6H5-6

Explore the universe of human proteins at neXtProt for SNCAIP: NX_Q9Y6H5

Post-translational modifications:

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 degradation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y6H5

SNCAIP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001229864.1 NP_005451.2

ENSEMBL proteins:

ENSP00000427090 ENSP00000426526 ENSP00000426551 ENSP00000422610 ENSP00000422106

ENSP00000261368 ENSP00000426280 ENSP00000425063 ENSP00000261367 ENSP00000427078

ENSP00000424338 ENSP00000427587 ENSP00000423360 ENSP00000378852 ENSP00000378849

ENSP00000427575 ENSP00000368848 ENSP00000368851 ENSP00000423199 ENSP00000426904

ENSP00000394392 ENSP00000368854 ENSP00000441681

Human Recombinant Protein Products for SNCAIP:

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	GenScript Custom Purified and Recombinant Proteins Services for SNCAIP
	Novus Biologicals SNCAIP Proteins Novus Biologicals SNCAIP Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0042734	presynaptic membrane	NAS	11956199
GO:0043025	neuronal cell body	NAS	11956199

SNCAIP for ontologies About GeneDecksing

SNCAIP Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SNCAIP
	Browse R&D Systems for Antibodies
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	GenScript Custom Superior Antibodies Services for SNCAIP
	Novus Biologicals SNCAIP Antibodies
	Abcam antibodies for SNCAIP
	Browse Antibodies at Uscn
	ThermoFisher Antibodies for SNCAIP

Assay Products for SNCAIP:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SNCAIP
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SNCAIP for domains About GeneDecksing

2 InterPro domains/families:

IPR020683 Ankyrin_rpt-contain_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry Q9Y6H5

ProtoNet protein and cluster: Q9Y6H5

1 Blocks protein family: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5

Similarity: Contains 6 ANK repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SNCAP_HUMAN, Q9Y6H5

Function: 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

Genatlas biochemistry entry for SNCAIP:

synphilin,alpha synuclein interacting protein expressed in brain,including substantia nigra,potentially involved in the

formation of Lewy bodies and Parkinson disease

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	11590439
GO:0031625	ubiquitin protein ligase binding	IPI	15728840

SNCAIP for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SNCAIP:

Increased G1 DNA content

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SNCAIP

miRNA Products:		OriGene 3'-UTR Clone: SNCAIP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNCAIP
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate SNCAIP:
		hsa-miR-3910 hsa-miR-124 hsa-miR-149 hsa-miR-138 hsa-miR-506 hsa-miR-4299 hsa-miR-24 hsa-miR-3714

		SwitchGear 3'UTR luciferase reporter plasmid: SNCAIP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNCAIP (see all 7) OriGene shRNA RFP: SNCAIP OriGene siRNA: SNCAIP
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for SNCAIP
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SNCAIP (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SNCAIP (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SNCAIP (NM_005460)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNCAIP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNCAIP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SNCAIP
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		Sirion Biotech Customized stable knockdown cell line services for SNCAIP Sirion Biotech Customized inducible knockdown cell line services for SNCAIP Sirion Biotech Customized stable overexpressing cell line services for SNCAIP Sirion Biotech Customized inducible overexpressing cell line services for SNCAIP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNCAIP

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway	1.00			Parkin-Ubiquitin Proteasomal System pathway	0.93
	Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway	0.93

Proteolysis Putative ubiquitin pathway

Proteolysis Putative ubiquitin pathway

1.00

Proteolysis_Putative ubiquitin pathway

0.97

Parkinsons Disease Pathway

Parkinsons Disease Pathway

1.00

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Parkinson's disease

0.61

Ubiquitinated Orc1 is degraded by the proteasome

Parkinson's Disease Pathway

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SNCAIP

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Proteolysis Putative ubiquitin pathway

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SNCAIP

Parkinson's Disease Pathway

2 GeneGo (Thomson Reuters) Pathways for SNCAIP

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Proteolysis Putative ubiquitin pathway

2 BioSystems Pathways for SNCAIP

	Parkinsons Disease Pathway
	Parkin-Ubiquitin Proteasomal System pathway

1 Kegg Pathway (Kegg details for SNCAIP):

Parkinson's disease

SNCAIP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SNCAIP

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/31 Interacting proteins for SNCAIP (Q9Y6H5^{2, 3} ENSP00000261368⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GET4	Q7L5D6²^,³	MINT-64299 I2D: score=5
PTN	P21246²^,³	MINT-64296 I2D: score=5
AGXT	P21549²^,³	MINT-64297 I2D: score=4
AES	Q08117²^,³	MINT-64298 I2D: score=3
NUDT21	O43809²^,³	MINT-8264567 I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008219	cell death	IEA	--
GO:0042417	dopamine metabolic process	IDA	14506261
GO:0046928	regulation of neurotransmitter secretion	IDA	14506261
GO:0090083	regulation of inclusion body assembly	IDA	15603737

SNCAIP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SNCAIP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SNCAIP
4 Novoseek chemical compound relationships for SNCAIP gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole	64	1	15944382 (1)
dopamine	20	6	14506261 (2), 18782602 (1), 17017531 (1), 12882651 (1) (see all 5)
glycogen	3.01	3	14570287 (2), 16174773 (1)
alanine	0	3	15944382 (1), 11784370 (1)

Search CenterWatch for drugs/clinical trials and news about SNCAIP / SNCAP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SNCAIP gene (2 alternative transcripts):

NM_001242935.1 NM_005460.2

Unigene Cluster for SNCAIP:

Synuclein, alpha interacting protein

Hs.426463 [show with all ESTs]

Unigene Representative Sequence: BC040552

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000514467 ENST00000510658 ENST00000506272 ENST00000508681 ENST00000509154(uc010jcx.1)

ENST00000261368(uc003ksw.1 uc010jcw.1) ENST00000512385 ENST00000514497

ENST00000261367(uc003ksx.1) ENST00000510003(uc010jct.3) ENST00000509023

ENST00000508017 ENST00000509652 ENST00000512146 ENST00000395469 ENST00000395466

ENST00000515215 ENST00000513719(uc003ktc.1)

miRNA Products:		OriGene 3'-UTR Clone: SNCAIP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNCAIP
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate SNCAIP:
		hsa-miR-3910 hsa-miR-124 hsa-miR-149 hsa-miR-138 hsa-miR-506 hsa-miR-4299 hsa-miR-24 hsa-miR-3714

		SwitchGear 3'UTR luciferase reporter plasmid: SNCAIP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SNCAIP (see all 7) OriGene shRNA RFP: SNCAIP OriGene siRNA: SNCAIP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNCAIP
		Sirion Biotech Custom design and validation of potent shRNA sequences against SNCAIP

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SNCAIP (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SNCAIP (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SNCAIP (NM_005460)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNCAIP
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SNCAIP Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNCAIP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNCAIP

Additional cDNA sequence:

AB110788.1 AB110789.1 AB110790.1 AB110791.1 AB110792.1 AB110793.1 AB110794.1 AF076929.1

AK001617.1 AK021944.1 AK298882.1 AK299687.1 AK304646.1 AK310835.1 BC033743.1 BC040552.1

BC094759.1 DQ227317.1

14 DOTS entries:

DT.95158231 DT.100748453 DT.120838413 DT.95158235 DT.102827916 DT.120838436 DT.100748454 DT.102827917

DT.120838450 DT.92425289 DT.97816165 DT.429865 DT.40236478 DT.75136137

24/77 AceView cDNA sequences (see all 77):

AI989971 BM710945 AB110791 AB110788 BC033743 BE549992 AB110789 AB110790

BE502878 AA586702 AK021944 AB110794 BM666046 AA973486 AF076929 BX117120

BE502809 AI625011 AB110792 NM_005460 AW168278 AI634509 BF196180 AA410381

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SNCAIP (see all 11) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15	^	16a	·	16b
SP1:
SP2:																			-		-		-		-						-		-		-
SP3:															-				-		-		-								-		-		-
SP4:															-										-						-		-		-
SP5:															-				-		-		-		-						-		-		-

ECgene alternative splicing isoforms for SNCAIP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SNCAIP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGATCAGGTC

About this image

SNCAIP expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SNCAIP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SNCAIP

SOURCE GeneReport for Unigene cluster: Hs.426463

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5

Tissue specificity: Detected in brain (at protein level). Widely expressed, with highest levels in brain, heart and

placenta

SABiosciences Custom PCR Arrays for SNCAIP

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SNCAIP Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SNCAIP
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNCAIP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNCAIP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNCAIP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SNCAIP gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sncaip^{1 , 5}	synuclein, alpha interacting protein (synphilin)^{1, 5}	85.41(n)¹ 87.09(a)¹		18 (28.27 cM)⁵ 67847¹ NM_001199151.1¹ NP_001186080.1¹ 52767709⁵
chicken (Gallus gallus)	Aves	SNCAIP¹	synuclein, alpha interacting protein	74.61(n) 76.6(a)		426796 XM_424409.3 XP_424409.3
lizard (Anolis carolinensis)	Reptilia	D3K9Z2_ANOCA⁶	Synuclein alpha interacting protein Fragment	72(a)	1 ↔ 1	GL343193.1(12030635-12031111)
zebrafish (Danio rerio)	Actinopterygii	zgc:172291¹	zgc:172291	59.53(n) 57.73(a)		796993 NM_001113636.1 NP_001107108.1

ENSEMBL Gene Tree for SNCAIP (if available)
TreeFam Gene Tree for SNCAIP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937592^1,2	C,F	unknown	150980156(+)	`TCTTAC/TGCCAG`	4	R C	mis¹ ese³		4		NA EU	5745
rs73279367^1,2	C,F	--	116833522(+)	`CCTGGG/CAAAGA`	2	--	us2k¹		3		WA CSA	122
rs74553005^1,2		--	116833819(+)	`ACCCAC/TACTTG`	2	--	us2k¹		1		WA	118
rs76060771^1,2	F	--	116834150(+)	`GGGGGG/ACAGGA`	2	--	us2k¹		1		EA	120
rs13180621^1,2	C	--	116834187(+)	`AAGTAG/TGCGGG`	2	--	us2k¹		0	--	--	--	--
rs13180641^1,2	C,F,H	--	116834211(+)	`CCCCAG/TCTGGG`	2	--	us2k¹		3		NS	668
rs75709484^1,2		--	116836738(+)	`GTACTT/GTACTG`	2	--	int¹		1		NA	120
rs73794579^1,2	C	--	116837173(+)	`CAAAAA/GCTTGT`	2	--	int¹		2		WA	120
rs57531816^1,2	C	--	116838866(+)	`TGGCAT/GCCACA`	2	--	int¹		2		WA	120
rs112485650^1,2	F	--	116838906(+)	`CACACC/TAGGTC`	2	--	int¹		2		CSA	4

HapMap Linkage Disequilibrium report for SNCAIP (121647049 - 121799914 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SNCAIP: --
Human Gene Mutation Database (HGMD): SNCAIP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SNCAIP

DNA2.0 Custom Variant and Variant Library Synthesis for SNCAIP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SNCAIP for disorders About GeneDecksing

OMIM gene information: 603779 OMIM disorders: --

UniProtKB/Swiss-Prot: SNCAP_HUMAN, Q9Y6H5

Defects in SNCAIP may be a cause of Parkinson disease (PARK) [MIM:168600]. A 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

12 diseases for SNCAIP: About MalaCards

parkinson's disease neurodegeneration lewy body dementia multiple system atrophy

dysautonomia neurodegenerative disease neuronitis cramps

dementia balanitis tremor brain disease

2 diseases from the University of Copenhagen DISEASES database for SNCAIP:

Parkinson's disease Lewy body dementia

6 Novoseek disease relationships for SNCAIP gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
parkinson disease, autosomal dominant	83.5	4	18446261 (1), 18292964 (1), 12761037 (1), 15322916 (1)
parkinson disease	82.3	42	17704840 (3), 14639662 (2), 16860793 (2), 10967135 (2) (see all 33)
neurodegenerative diseases	66.9	2	11907799 (2), 17704840 (1)
lewy body disease	63.3	2	18335262 (1), 17467279 (1)
dementia	43.1	2	18335262 (1), 17467279 (1)
alzheimers disease	6.07	2	17467279 (1)

GeneTests: SNCAIP

Parkinson Disease

Genetic Association Database (GAD): SNCAIP
Human Genome Epidemiology (HuGE) Navigator: SNCAIP (5 documents)

Export disorders for SNCAIP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SNCAIP gene, integrated from 9 sources (see all 100):
(articles sorted by number of sources associating them with SNCAIP)

Utopia: connect your pdf to the dynamic
world of online information

Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. (PubMed id 10319874)^{1, 2, 3, 9} Engelender S.... Ross C.A. (1999)
Siah-1 facilitates ubiquitination and degradation of synphilin-1. (PubMed id 14506261)^{1, 2, 9} Nagano Y.... Matsumoto M. (2003)
Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1. (PubMed id 12750386)^{1, 2, 9} Ito T.... Sobue G. (2003)
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. (PubMed id 11590439)^{1, 2, 9} Chung K.K.K.... Dawson T.M. (2001)
Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. (PubMed id 14639662)^{1, 4, 9} Maraganore D.M....Rocca W.A. (2003)
Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients. (PubMed id 16595633)^{1, 2, 9} Eyal A....Engelender S. (2006)
Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. (PubMed id 15064394)^{1, 2, 9} Liani E.... Engelender S. (2004)
Organization of the human synphilin-1 gene, a candidate for Parkinson's disease. (PubMed id 10967135)^{1, 2, 9} Engelender S.... Ross C.A. (2000)
Genetic association study of synphilin-1 in idiopathic Parkinson's disease. (PubMed id 18366718)^{1, 2, 9} Myhre R....Aasly J.O. (2008)
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. (PubMed id 12761037)^{1, 2, 9} Marx F.P....Kruger R. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9627	HGNC: 11139	AceView: SNCAIP	Ensembl:ENSG00000064692	euGenes: HUgn9627
ECgene: SNCAIP	Kegg: 9627	H-InvDB: SNCAIP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SNCAIP	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SNCAIP

Intellectual Property for SNCAIP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SNCAIP gene:
Search GeneIP for patents involving SNCAIP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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SNCAIP Gene

synuclein, alpha interacting protein

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SNCAIP Gene

synuclein, alpha interacting protein

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