InnateDB Protein
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IDBP-102047.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VPS45
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Protein Name
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vacuolar protein sorting 45 homolog (S. cerevisiae)
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Synonyms
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H1; H1VPS45; SCN5; VPS45A; VPS45B; VPS54A; VSP45; VSP45A;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000358126
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InnateDB Gene
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IDBG-102045 (VPS45)
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Protein Structure
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Function |
May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
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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}.
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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.
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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.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
7
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001619
Sec1-like protein
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PFAM |
PF00995
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PRINTS |
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PIRSF |
PIRSF005715
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NRW7
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PhosphoSite |
PhosphoSite-Q9NRW7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11311
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UniGene |
Hs.535144
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RefSeq |
NP_009190
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HUGO |
HGNC:14579
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OMIM |
610035
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CCDS |
CCDS944
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HPRD |
10301
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IMGT |
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EMBL |
AF165513
AJ133421
AK023170
AL358073
BC012932
BC028382
CH471121
U35246
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GenPept |
AAC50931
AAF86643
AAH12932
AAH28382
BAB14443
CAB40417
CAI14265
EAW53584
EAW53585
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