• Gene id: 27072

Gene Summary

• Gene Symbol: VPS41   Gene   UCSC   Ensembl
• Aliases: HVPS41, HVSP41, hVps41p
• Gene name: VPS41 subunit of HOPS complex
• Alternate names: vacuolar protein sorting-associated protein 41 homolog, S53, VPS41, HOPS complex subunit, vacuolar assembly protein 41, vacuolar protein sorting 41 homolog,
• Gene location: 7p14.1 (38909199: 38722973)     Exons: 31     NC_000007.14
• Gene summary(Entrez): Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol
• OMIM: 605485

Protein Summary

• Protein general information: P49754  
  • Name: Vacuolar protein sorting associated protein 41 homolog (S53)
  • Length: 854  
  • Mass: 98566
• Sequence:

  MAEAEEQETGSLEESTDESEEEESEEEPKLKYERLSNGVTEILQKDAASCMTVHDKFLALGTHYGKVYLLDVQGN
  ITQKFDVSPVKINQISLDESGEHMGVCSEDGKVQVFGLYSGEEFHETFDCPIKIIAVHPHFVRSSCKQFVTGGKK
  LLLFERSWMNRWKSAVLHEGEGNIRSVKWRGHLIAWANNMGVKIFDIISKQRITNVPRDDISLRPDMYPCSLCWK
  DNVTLIIGWGTSVKVCSVKERHASEMRDLPSRYVEIVSQFETEFYISGLAPLCDQLVVLSYVKEISEKTEREYCA
  RPRLDIIQPLSETCEEISSDALTVRGFQENECRDYHLEYSEGESLFYIVSPRDVVVAKERDQDDHIDWLLEKKKY
  EEALMAAEISQKNIKRHKILDIGLAYINHLVERGDYDIAARKCQKILGKNAALWEYEVYKFKEIGQLKAISPYLP
  RGDPVLKPLIYEMILHEFLESDYEGFATLIREWPGDLYNNSVIVQAVRDHLKKDSQNKTLLKTLAELYTYDKNYG
  NALEIYLTLRHKDVFQLIHKHNLFSSIKDKIVLLMDFDSEKAVDMLLDNEDKISIKKVVEELEDRPELQHVYLHK
  LFKRDHHKGQRYHEKQISLYAEYDRPNLLPFLRDSTHCPLEKALEICQQRNFVEETVYLLSRMGNSRSALKMIME
  ELHDVDKAIEFAKEQDDGELWEDLILYSIDKPPFITGLLNNIGTHVDPILLIHRIKEGMEIPNLRDSLVKILQDY
  NLQILLREGCKKILVADSLSLLKKMHRTQMKGVLVDEENICESCLSPILPSDAAKPFSVVVFHCRHMFHKECLPM
  PSMNSAAQFCNICSAKNRGPGSAILEMKK

• Structural information:
  • Interpro: IPR000547  IPR011990  IPR016902  IPR015943  IPR036322   IPR001841  
  • Prosite: PS50236 PS50089
  • STRING: ENSP00000309457
• Other Databases: GeneCards:  VPS41  Malacards:  VPS41

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006623	protein targeting to vacuole	IBA	biological process
GO:0042144	vacuole fusion, non-autophagic	IBA	biological process
GO:0035542	regulation of SNARE complex assembly	IBA	biological process
GO:0030897	HOPS complex	IBA	cellular component
GO:0005770	late endosome	IBA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0030123	AP-3 adaptor complex	IDA	colocalizes with
GO:0071439	clathrin complex	IDA	colocalizes with
GO:0031902	late endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:1902774	late endosome to lysosome transport	IMP	biological process
GO:0034058	endosomal vesicle fusion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0046907	intracellular transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0042802	identical 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:0008017	microtubule binding	IEA	molecular function
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0030123	AP-3 adaptor complex	IEA	cellular component
GO:0045055	regulated exocytosis	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0043621	protein self-association	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray