Homo sapiens Protein: VPS45
Summary
InnateDB Protein IDBP-102047.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS45
Protein Name vacuolar protein sorting 45 homolog (S. cerevisiae)
Synonyms H1; H1VPS45; SCN5; VPS45A; VPS45B; VPS54A; VSP45; VSP45A;
Species Homo sapiens
Ensembl Protein ENSP00000358126
InnateDB Gene IDBG-102045 (VPS45)
Protein Structure
UniProt Annotation
Function May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
Subcellular Localization Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Associated with Golgi/endosomal vesicles and the trans-Golgi network. {ECO:0000250}.
Disease Associations Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]: An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life- threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. {ECO:0000269PubMed:23738510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 liver.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR001619 Sec1-like protein
PFAM PF00995
PRINTS
PIRSF PIRSF005715
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NRW7
PhosphoSite PhosphoSite-Q9NRW7
TrEMBL
UniProt Splice Variant
Entrez Gene 11311
UniGene Hs.535144
RefSeq NP_009190
HUGO HGNC:14579
OMIM 610035
CCDS CCDS944
HPRD 10301
IMGT
EMBL AF165513 AJ133421 AK023170 AL358073 BC012932 BC028382 CH471121 U35246
GenPept AAC50931 AAF86643 AAH12932 AAH28382 BAB14443 CAB40417 CAI14265 EAW53584 EAW53585