• Gene id: 11311

Gene Summary

• Gene Symbol: VPS45   Gene   UCSC   Ensembl
• Aliases: H1, H1VPS45, SCN5, VPS45A, VPS45B, VPS54A, VSP45, VSP45A
• Gene name: vacuolar protein sorting 45 homolog
• Alternate names: vacuolar protein sorting-associated protein 45, leucocyte vacuolar protein sorting 45, vacuolar protein sorting 45A,
• Gene location: 1q21.2 (34375506: 34389150)     Exons: 4     NC_000021.9
• 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: 610035

Protein Summary

• Protein general information: Q9NRW7  
  • Name: Vacuolar protein sorting associated protein 45 (h VPS45) (hlVps45)
  • Length: 570  
  • Mass: 65077
  • Tissue specificity: Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liv
• Sequence:

  MNVVFAVKQYISKMIEDSGPGMKVLLMDKETTGIVSMVYTQSEILQKEVYLFERIDSQNREIMKHLKAICFLRPT
  KENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVAEVQEFYGDYIAVNPHLFSLNILGCCQGRNW
  DPAQLSRTTQGLTALLLSLKKCPMIRYQLSSEAAKRLAECVKQVITKEYELFEFRRTEVPPLLLILDRCDDAITP
  LLNQWTYQAMVHELLGINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPK
  EQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQNDHSSALQNIKRLLQ
  NPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYRKLVSAVVEYGGKRVRGSDLFSPKDAVAITK
  QFLKGLKGVENVYTQHQPFLHETLDHLIKGRLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTT
  PGVRIVLGGTTVHNTKSFLEEVLASGLHSRSKESSQVTSRSASRR

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  
  • DIP: 46823
  • STRING: ENSP00000358126
• Other Databases: GeneCards:  VPS45  Malacards:  VPS45

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0000139	Golgi membrane	IBA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010008	endosome membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0016021	integral component of membrane	ISS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881