• Gene id: 55737

Gene Summary

• Gene Symbol: VPS35   Gene   UCSC   Ensembl
• Aliases: MEM3, PARK17
• Gene name: VPS35 retromer complex component
• Alternate names: vacuolar protein sorting-associated protein 35, hVPS35, maternal-embryonic 3, vacuolar protein sorting 35 homolog,
• Gene location: 16q11.2 (46689193: 46656131)     Exons: 17     NC_000016.10
• Gene summary(Entrez): 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. Th
• OMIM: 610345

Protein Summary

• Protein general information: Q96QK1  
  • Name: Vacuolar protein sorting associated protein 35 (hVPS35) (Maternal embryonic 3) (Vesicle protein sorting 35)
  • Length: 796  
  • Mass: 91707
  • Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon.
• Sequence:

  MPTTQQSPQDEQEKLLDEAIQAVKVQSFQMKRCLDKNKLMDALKHASNMLGELRTSMLSPKSYYELYMAISDELH
  YLEVYLTDEFAKGRKVADLYELVQYAGNIIPRLYLLITVGVVYVKSFPQSRKDILKDLVEMCRGVQHPLRGLFLR
  NYLLQCTRNILPDEGEPTDEETTGDISDSMDFVLLNFAEMNKLWVRMQHQGHSRDREKRERERQELRILVGTNLV
  RLSQLEGVNVERYKQIVLTGILEQVVNCRDALAQEYLMECIIQVFPDEFHLQTLNPFLRACAELHQNVNVKNIII
  ALIDRLALFAHREDGPGIPADIKLFDIFSQQVATVIQSRQDMPSEDVVSLQVSLINLAMKCYPDRVDYVDKVLET
  TVEIFNKLNLEHIATSSAVSKELTRLLKIPVDTYNNILTVLKLKHFHPLFEYFDYESRKSMSCYVLSNVLDYNTE
  IVSQDQVDSIMNLVSTLIQDQPDQPVEDPDPEDFADEQSLVGRFIHLLRSEDPDQQYLILNTARKHFGAGGNQRI
  RFTLPPLVFAAYQLAFRYKENSKVDDKWEKKCQKIFSFAHQTISALIKAELAELPLRLFLQGALAAGEIGFENHE
  TVAYEFMSQAFSLYEDEISDSKAQLAAITLIIGTFERMKCFSEENHEPLRTQCALAASKLLKKPDQGRAVSTCAH
  LFWSGRNTDKNGEELHGGKRVMECLKKALKIANQCMDPSLQVQLFIEILNRYIYFYEKENDAVTIQVLNQLIQKI
  REDLPNLESSEETEQINKHFHNTLEHLRLRRESPESEGPIYEGLIL

• Structural information:
  • Interpro: IPR016024  IPR005378  IPR042491  
  • PDB: 2R17 5F0J 5F0K 5F0L 5F0M 5F0P 5OSH 5OSI
  • PDBsum: 2R17 5F0J 5F0K 5F0L 5F0M 5F0P 5OSH 5OSI
  • DIP: 29076
  • STRING: ENSP00000299138
• Other Databases: GeneCards:  VPS35  Malacards:  VPS35

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901215	negative regulation of neuron death	IGI	biological process
GO:2000331	regulation of terminal button organization	IMP	biological process
GO:0099073	mitochondrion-derived vesicle	IDA	cellular component
GO:1903364	positive regulation of cellular protein catabolic process	IGI	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043653	mitochondrial fragmentation involved in apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IDA	colocalizes with
GO:0005769	early endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:1905606	regulation of presynapse assembly	ISS	biological process
GO:0010008	endosome membrane	IDA	cellular component
GO:0030904	retromer complex	IDA	cellular component
GO:0030906	retromer, cargo-selective complex	IDA	cellular component
GO:0099639	neurotransmitter receptor transport, endosome to plasma membrane	IDA	biological process
GO:0016055	Wnt signaling pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010821	regulation of mitochondrion organization	IGI	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0031748	D1 dopamine receptor binding	IPI	molecular function
GO:1902950	regulation of dendritic spine maintenance	IMP	biological process
GO:0060161	positive regulation of dopamine receptor signaling pathway	IDA	biological process
GO:0060548	negative regulation of cell death	IGI	biological process
GO:0032268	regulation of cellular protein metabolic process	IDA	biological process
GO:0030904	retromer complex	TAS	cellular component
GO:0030904	retromer complex	TAS	cellular component
GO:0030904	retromer complex	NAS	cellular component
GO:0030906	retromer, cargo-selective complex	NAS	cellular component
GO:0099074	mitochondrion to lysosome transport	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	NAS	biological process
GO:0042147	retrograde transport, endosome to Golgi	NAS	biological process
GO:0090141	positive regulation of mitochondrial fission	IMP	biological process
GO:0050728	negative regulation of inflammatory response	IGI	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0032268	regulation of cellular protein metabolic process	IGI	biological process
GO:0005770	late endosome	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0030904	retromer complex	IBA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0045056	transcytosis	IDA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0097422	tubular endosome	IDA	cellular component
GO:0030904	retromer complex	IDA	cellular component
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:1902823	negative regulation of late endosome to lysosome transport	IMP	biological process
GO:0036010	protein localization to endosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0030906	retromer, cargo-selective complex	IEA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016055	Wnt signaling pathway	TAS	biological process
GO:0005768	endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0050882	voluntary musculoskeletal movement	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0031648	protein destabilization	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:1905166	negative regulation of lysosomal protein catabolic process	IEA	biological process
GO:1901215	negative regulation of neuron death	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IEA	biological process
GO:0030904	retromer complex	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0033365	protein localization to organelle	IEA	biological process
GO:0032463	negative regulation of protein homooligomerization	IEA	biological process
GO:0031748	D1 dopamine receptor binding	IEA	molecular function
GO:0030904	retromer complex	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:1903828	negative regulation of cellular protein localization	IEA	biological process
GO:1903181	positive regulation of dopamine biosynthetic process	IEA	biological process
GO:0099639	neurotransmitter receptor transport, endosome to plasma membrane	IEA	biological process
GO:0099003	vesicle-mediated transport in synapse	IEA	biological process
GO:0098887	neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0090326	positive regulation of locomotion involved in locomotory behavior	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0061357	positive regulation of Wnt protein secretion	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030906	retromer, cargo-selective complex	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042147	retrograde transport, endosome to Golgi	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Parkinson disease	KEGG:H00057
Parkinson disease	KEGG:H00057
Parkinson's disease	PMID:25639775
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq