Version 5.4
Homo sapiens Gene: VPS45
Summary
InnateDB Gene IDBG-102045.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS45
Gene Name vacuolar protein sorting 45 homolog (S. cerevisiae)
Synonyms H1; H1VPS45; SCN5; VPS45A; VPS45B; VPS54A; VSP45; VSP45A
Species Homo sapiens
Ensembl Gene ENSG00000136631
Encoded Proteins
IDBP-102047
vacuolar protein sorting 45 homolog (S. cerevisiae)
IDBP-102049
vacuolar protein sorting 45 homolog (S. cerevisiae)
IDBP-388300
vacuolar protein sorting 45 homolog (S. cerevisiae)
IDBP-811371
vacuolar protein sorting 45 homolog (S. cerevisiae)
IDBP-584699
vacuolar protein sorting 45 homolog (S. cerevisiae)
IDBP-811384
vacuolar protein sorting 45 homolog (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 23738510
Mutations in VPS45 are associated with congenital neutrophil defect syndrome.
Entrez Gene
Summary 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 vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. [provided by RefSeq, Jul 2008]
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 vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:150067293-150145327
Strand Forward strand
Band q21.2
Transcripts
ENST00000369130 ENSP00000358126
ENST00000369128 ENSP00000358124
ENST00000419023 ENSP00000400143
ENST00000462852 ENSP00000481356
ENST00000478999
ENST00000460366
ENST00000497638
ENST00000477558
ENST00000472756
ENST00000491789
ENST00000535106 ENSP00000440690
ENST00000618148
ENST00000611412 ENSP00000478403
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0006886 intracellular protein transport
GO:0006904 vesicle docking involved in exocytosis
GO:0007596 blood coagulation
GO:0016192 vesicle-mediated transport
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0000139 Golgi membrane
GO:0005575 cellular_component
GO:0005794 Golgi apparatus
GO:0010008 endosome membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000015747
View Gene Order
ENSBTAG00000020635
Not yet available
Pathways
NETPATH
REACTOME
REACT_24970
Factors involved in megakaryocyte development and platelet production pathway
REACT_604
Hemostasis pathway
KEGG
hsa04144
Endocytosis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL F5H8K1
UniProt Splice Variant
Entrez Gene 11311
UniGene Hs.535144
RefSeq NM_001279353 NM_001279354 NM_001279355 NM_007259
HUGO HGNC:14579
OMIM 610035
CCDS CCDS60244 CCDS72904 CCDS944
HPRD 10301
IMGT
EMBL AL358073
GenPept
RNA Seq Atlas 11311

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca