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VPS35 Gene

protein-coding GIFtS: 63
GCID: GC16M046691

Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)

(Previous names: vacuolar protein sorting 35 (yeast homolog), vacuolar protein...)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)¹ ²		Vacuolar Protein Sorting 35 (Yeast Homolog)¹
MEM3² ³ ⁵		Vacuolar Protein Sorting 35 (Yeast)¹
Maternal-Embryonic 3² ³		Vacuolar Protein Sorting-Associated Protein 35²
hVPS35² ³		Vesicle Protein Sorting 35³
PARK17² ⁵

External Ids:	HGNC: 13487¹	Entrez Gene: 55737²	Ensembl: ENSG00000069329⁷	OMIM: 601501⁵	UniProtKB: Q96QK1³

Export aliases for VPS35 gene to outside databases

Previous GC identifers: GC16M037104 GC16M046634 GC16M046433 GC16M046475 GC16M046474 GC16M045251 GC16M032582

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS35 Gene:

This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a

large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from

endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that

make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate

that this protein interacts directly with VPS35, which serves as the core of the retromer complex. (provided by

RefSeq, Jul 2008)

GeneCards Summary for VPS35 Gene:

VPS35 (vacuolar protein sorting 35 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS35 include vps35-related parkinson disease, and parkinson disease 17.

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1

Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors

(IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the

polymeric immunoglobulin receptor (pIgR-pIgA)

Gene Wiki entry for VPS35 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000016.10 NT_010498.16 NC_018927.2

Regulatory elements:

Regulatory transcription factor binding sites in the VPS35 gene promoter:
STAT1 STAT4 STAT1beta STAT5A Nkx2-5 Cdc5 STAT1alpha FAC1 STAT2 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: VPS35 promoter sequence

Search Chromatin IP Primers for VPS35

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS35

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

Entrez Gene cytogenetic band: 16q12 Ensembl cytogenetic band: 16q11.2 HGNC cytogenetic band: 16q12

VPS35 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS35 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M046691: view genomic region (about GC identifiers)

Start:	46,690,054 bp from pter	End:	46,723,430 bp from pter
Size:	33,377 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1 (See protein sequence)

Recommended Name: Vacuolar protein sorting-associated protein 35

Size: 796 amino acids; 91707 Da

Subunit: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2.

Interacts directly with VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35

and SFN. Interacts with GOLPH3

Sequence caution: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14626.1;

Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for VPS35:

2R17 (3D)

Secondary accessions: Q561W2 Q9H016 Q9H096 Q9H4P3 Q9H8J0 Q9NRS7 Q9NVG2 Q9NX80 Q9NZK2

Explore the universe of human proteins at neXtProt for VPS35: NX_Q96QK1

Explore proteomics data for VPS35 at MOPED

Post-translational modifications:

Ubiquitination² at Lys24, Lys396

Modification sites at PhosphoSitePlus

See VPS35 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_060676.2

ENSEMBL proteins:

ENSP00000299138 ENSP00000456274 ENSP00000461469 ENSP00000461423

Reactome Protein details: Q96QK1

VPS35 Human Recombinant Protein Products:

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VPS35 Assay Products:

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	Cloud-Clone Corp. ELISAs for VPS35 Cloud-Clone Corp. CLIAs for VPS35

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PARK: Parkinson disease

2 InterPro protein domains:

IPR016024 ARM-type_fold

IPR005378 Vps35

Graphical View of Domain Structure for InterPro Entry Q96QK1

ProtoNet protein and cluster: Q96QK1

1 Blocks protein domain: IPB005378 Vacuolar protein sorting-associated protein 35

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1

Similarity: Belongs to the VPS35 family

VPS35 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: VPS35_HUMAN, Q96QK1

Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors

(IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the

polymeric immunoglobulin receptor (pIgR-pIgA)

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	11102511

VPS35 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for VPS35:

Cell cycle / mitosis defect

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Vps35):

behavior/neurological

mortality/aging

nervous system

normal

other

VPS35 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS35

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VPS35

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS35

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miRNA Products:		miRTarBase miRNAs that target VPS35: hsa-mir-590-3p (MIRT016199), hsa-mir-24-3p (MIRT030421), hsa-mir-27a-3p (MIRT028711), hsa-mir-15b-5p (MIRT046485), hsa-mir-342-3p (MIRT043692)

		Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
		hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633

		SwitchGear 3'UTR luciferase reporter plasmid: VPS35 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for VPS35
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for VPS35

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		GenScript: all cDNA clones in your preferred vector: VPS35 (NM_018206)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS35
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS35

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for VPS35
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS35

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

VPS35_HUMAN, Q96QK1: Cytoplasm. Membrane; Peripheral membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	5
endosome	4
golgi apparatus	2
lysosome	2
nucleus	2
vacuole	2
cytoskeleton	1

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Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005765	lysosomal membrane	IDA	17897319
GO:0005768	endosome	IDA	--
GO:0005829	cytosol	TAS	--
GO:0030904	retromer complex	IEA	--
GO:0043231	intracellular membrane-bounded organelle	--	--

VPS35 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for VPS35 About

See pathways by source

SuperPath

Contained pathways About

beta-catenin independent WNT signaling

Signaling by Wnt

0.79

Signaling by GPCR

Signal Transduction

0.58

Wnt Pathway

WNT ligand biogenesis and trafficking

0.56

Pathways by source See SuperPaths
Show all pathways

1 Reactome Pathway for VPS35

WNT ligand biogenesis and trafficking

VPS35 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for VPS35
Interactions:

GeneGlobe Interaction Network for VPS35

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for VPS35 (Q96QK1^{2, 3} ENSP00000299138⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 151)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZNF512B	Q96KM6²^,³	MINT-60836 I2D: score=2
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1

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Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008219	cell death	IEA	--
GO:0015031	protein transport	IEA	--
GO:0042147	retrograde transport, endosome to Golgi	NAS	11102511

VPS35 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for VPS35

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for VPS35 gene:

NM_018206.4

Unigene Cluster for VPS35:

Vacuolar protein sorting 35 homolog (S. cerevisiae)

Hs.454528 [show with all ESTs]

Unigene Representative Sequence: AK025774

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000299138(uc002eef.4) ENST00000568784(uc002eed.3 uc002eee.3)

ENST00000562420 ENST00000568642 ENST00000569950 ENST00000565228 ENST00000563884

ENST00000568612 ENST00000561713 ENST00000568191 ENST00000563984

miRNA Products:		Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
		hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633

		SwitchGear 3'UTR luciferase reporter plasmid: VPS35 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for VPS35
		Predesigned siRNA for gene silencing in human, mouse, rat VPS35

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		GenScript: all cDNA clones in your preferred vector: VPS35 (NM_018206)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS35
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS35

Primer Products:		OriGene qPCR primer pairs and template standards for VPS35 OriGene qSTAR qPCR primer pairs in human, mouse for VPS35
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat VPS35
		QuantiTect SYBR Green Assays in human, mouse, rat VPS35
		QuantiFast Probe-based Assays in human, mouse, rat VPS35

Additional mRNA sequence:

AF175265.1 AF183418.1 AF186382.1 AF191298.2 AK000395.1 AK001614.1 AK023650.1 AK025774.1

AK223218.1 AL136888.1 AL512769.1 AY007112.1 BC002414.2 BC010362.1 BC041367.2 BC093036.1

Selected DOTS entries (see all 33):

DT.454462 DT.100881305 DT.95369874 DT.100881306 DT.100725496 DT.100881303 DT.100881298 DT.100881299

DT.211205 DT.95369860 DT.120665384 DT.120665392 DT.120665380 DT.120665354 DT.120665387 DT.95369869

DT.97860347 DT.101959592 DT.120665357 DT.120665389 DT.120665427 DT.100881297 DT.100881300 DT.100881308

Selected AceView cDNA sequences (see all 621):

BM450432 BU686147 BG319524 AI302924 BQ431694 BP378317 CR602924 BM833729

CR626386 CR618276 N51792 AI245882 BU623352 CN484592 BQ645934 AI692468

AA149212 CB216653 BM996006 BM991546 AA251150 BC002414 BE093063 BQ433648

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS35 (see all 14) About this scheme

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

ExUns:	15	^	16	^	17	^	18	^	19a	·	19b	^	20a	·	20b	^	21
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for VPS35

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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VPS35 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGTCCTCTG

About this image

VPS35 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Limb (Muscoskeletal System)
Limb Bud

Stomach (Gastrointestinal Tract)

VPS35 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

VPS35 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.454528

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1

Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus,

testis, ovary, small intestine, kidney and colon

Custom PCR Arrays for VPS35

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat VPS35
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		QuantiFast Probe-based Assays in human, mouse, rat VPS35

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS35

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS35 gene from Selected species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Vps35^{1 , 5}	vacuolar protein sorting 35^{1, 5}	91.46(n)¹ 99.37(a)¹		8 (41.61 cM)⁵ 65114¹ NM_022997.4¹ NP_075373.1¹ 85260392⁵
chicken (Gallus gallus)	Aves	VPS35¹	vacuolar protein sorting 35 homolog (S. cerevisiae)	84.21(n) 97.99(a)		415750 NM_001005842.1 NP_001005842.1
lizard (Anolis carolinensis)	Reptilia	VPS35⁶	vacuolar protein sorting 35 homolog (S. cerevisiae...	92(a)	1 ↔ 1	LGc(3597898-3632336)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8144²	Xenopus laevis transcribed sequence with strong similarity more	80.55(n)		CA988274.1
zebrafish (Danio rerio)	Actinopterygii	vps35¹	vacuolar protein sorting 35 (yeast)	76.76(n) 93.97(a)		561697 NM_001025517.2 NP_001020688.2
fruit fly (Drosophila melanogaster)	Insecta	CG5625³ Vps35¹	vesicle-mediated transport³ Vacuolar protein sorting 35¹	58(a)³ 60.03(n)¹ 63.33(a)¹		58C7³ 37536¹ NM_137807.3¹ NP_611651.4¹
worm (Caenorhabditis elegans)	Secernentea	vps-35¹	vps-35	55.04(n) 49.94(a)		174000 NM_062779.4 NP_495180.2
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	VPS35(YJL154C)⁴ VPS35¹	Endosomal subunit of membrane-associated retromer complex more⁴ VPS35¹	52.12(n)¹ 41.81(a)¹		10(133935-131101)⁴ 853287^{1, 4} NP_012381.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	VPS35B¹	VPS35B	52.62(n) 44.88(a)		843918 NM_106235.4 NP_177713.3
rice (Oryza sativa)	Liliopsida	AK069591.1²	--	72.38(n)		AK069591.1

ENSEMBL Gene Tree for VPS35 (if available)
TreeFam Gene Tree for VPS35 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for VPS35 gene

1 SIMAP similar gene for VPS35 using alignment to 4 protein entries: VPS35_HUMAN (see all proteins):

DKFZp686O2462

VPS35 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for VPS35
PGOHUM00000249099

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_066659⁴		Parkinson disease 17 (PARK17)⁴	--	see VAR_066659	2	D N	mis⁴		0	--	--	--	--
rs188286943^1,2	C,F	pathogenic¹	47706410(+)	`GGAATC/TGCTGA`	2	N D	mis¹		3		EU	5092
rs184277092^1,2	C	unknown¹	47712965(+)	`AATCCG/ACTGAT`	2	/R /W	mis¹		3		EU	5096
rs185098674^1,2	C	--	32591716(+)	`TAAAGA/-AAAAA`	1	--	int¹		2		EU	3754
rs5816559^1,2	C	--	32597653(+)	`GTGGTA/-ACTGA`	1	--	int¹		1		NA	2
rs369756092^1,2	C	--	46694101(+)	`GTTTT-/TTTGTTTT`	2	--	ut3¹		0	--	--	--	--
rs59370839^1,2	C	--	46694124(+)	`TTTTT-/T/TT/ TTT/TTTTACAGA`	4	--	ut3¹ cds¹		1		NA	2
rs58288436^1,2	C	--	46712218(+)	`AAAAA-/AAAA AAAAAAGCAAA`	1	--	int¹		1		NA	2
rs3040555^1,2	C	--	46714944(+)	`CACAC-/A/AC/C TGTAT`	1	--	int¹		1		NA	2
rs66944877^1,2	C	--	46718147(+)	`GACCA-/ATCGAA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for VPS35 (46690054 - 46723430 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for VPS35: About this table

Variant ID	Type	Subtype	PubMed ID
nsv428327	CNV	Gain	18775914
nsv526656	CNV	Gain	19592680

Human Gene Mutation Database (HGMD): VPS35

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing VPS35

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601501
OMIM disorders: 614203
UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1

Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease.

Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular

rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa.

The pathology 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.

Note=The disease is caused by mutations affecting the gene represented in this entry

14 diseases for VPS35:
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tremor schizophrenia alzheimer's disease hepatocellular carcinoma

colorectal cancer multiple myeloma malaria myeloma

neuronitis breast cancer

1 disease from the University of Copenhagen DISEASES database for VPS35:

Parkinson's disease

VPS35 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Export disorders for VPS35 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)
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PubMed articles for VPS35 gene, integrated from 10 sources (see all 95):
(articles sorted by number of sources associating them with VPS35)

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

VPS35 mutations in Parkinson disease. (PubMed id 21763482)^{1, 2, 3} Vilarino-Guell C.... Farrer M.J. (Am. J. Hum. Genet. 2011)
Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21. (PubMed id 11112353)^{1, 2, 3} Zhang P.... Zhao S. (Genomics 2000)
Human homologues of yeast vacuolar protein sorting 29 and 35. (PubMed id 11062004)^{1, 2, 9} Edgar A.J. and Polak J.M. (Biochem. Biophys. Res. Commun. 2000)
Identification of VPS35 mutations replicated in French families with Parkinson disease. (PubMed id 22517097)^{1, 2} Lesage S.... Brice A. (Neurology 2012)
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PubMed id 21763483)^{1, 2} Zimprich A.... Strom T.M. (Am. J. Hum. Genet. 2011)
GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. (PubMed id 19553991)^{1, 2} Scott K.L.... Chin L. (Nature 2009)
Functional architecture of the retromer cargo-recognition complex. (PubMed id 17891154)^{1, 2} Hierro A.... Hurley J.H. (Nature 2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Exportin 7 defines a novel general nuclear export pathway. (PubMed id 15282546)^{1, 2} Mingot J.-M.... Goerlich D. (EMBO J. 2004)
The mammalian retromer regulates transcytosis of the polymeric immunoglobulin receptor. (PubMed id 15247922)^{1, 2} Verges M.... Mostov K.E. (Nat. Cell Biol. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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)
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Entrez Gene: 55737	HGNC: 13487	AceView: VPS35	Ensembl:ENSG00000069329	euGenes: HUgn55737
ECgene: VPS35	H-InvDB: VPS35

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for VPS35	Pharmacogenomics, SNPs, Pathways

Intellectual Property for VPS35 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 VPS35 gene:
Search GeneIP for patents involving VPS35

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

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VPS35 Gene

Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)

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VPS35 Gene

Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)

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