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VPS45 (vacuolar protein sorting 45 homolog)

Identity

Alias_namesVPS45B
VPS45A
vacuolar protein sorting 45A (yeast homolog)
vacuolar protein sorting 45A (yeast)
vacuolar protein sorting 45 homolog (S. cerevisiae)
Alias_symbol (synonym)h-vps45
H1
Other aliasH1VPS45
SCN5
VPS54A
VSP45
VSP45A
HGNC (Hugo) VPS45
LocusID (NCBI) 11311
Atlas_Id 75638
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 150067293 and ends at 150145327 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RPRD2 (1q21.3) / VPS45 (1q21.2)TARS2 (1q21.3) / VPS45 (1q21.2)VPS45 (1q21.2) / PLEKHO1 (1q21.2)
VPS45 (1q21.2) / SC5D (11q23.3)RPRD2 VPS45TARS2 VPS45

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)VPS45   14579
Cards
Entrez_Gene (NCBI)VPS45  11311  vacuolar protein sorting 45 homolog
AliasesH1; H1VPS45; SCN5; VPS45A; 
VPS45B; VPS54A; VSP45; VSP45A
GeneCards (Weizmann)VPS45
Ensembl hg19 (Hinxton)ENSG00000136631 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136631 [Gene_View]  chr1:150067293-150145327 [Contig_View]  VPS45 [Vega]
ICGC DataPortalENSG00000136631
TCGA cBioPortalVPS45
AceView (NCBI)VPS45
Genatlas (Paris)VPS45
WikiGenes11311
SOURCE (Princeton)VPS45
Genetics Home Reference (NIH)VPS45
Genomic and cartography
GoldenPath hg38 (UCSC)VPS45  -     chr1:150067293-150145327 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)VPS45  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblVPS45 - 1q21.2 [CytoView hg19]  VPS45 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIVPS45 [Mapview hg19]  VPS45 [Mapview hg38]
OMIM610035   615285   
Gene and transcription
Genbank (Entrez)AF165513 AJ133421 AK023170 AK223214 AK293555
RefSeq transcript (Entrez)NM_001279353 NM_001279354 NM_001279355 NM_007259
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)VPS45
Cluster EST : UnigeneHs.443750 [ NCBI ]
CGAP (NCI)Hs.443750
Alternative Splicing GalleryENSG00000136631
Gene ExpressionVPS45 [ NCBI-GEO ]   VPS45 [ EBI - ARRAY_EXPRESS ]   VPS45 [ SEEK ]   VPS45 [ MEM ]
Gene Expression Viewer (FireBrowse)VPS45 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11311
GTEX Portal (Tissue expression)VPS45
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRW7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRW7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRW7
Splice isoforms : SwissVarQ9NRW7
PhosPhoSitePlusQ9NRW7
Domains : Interpro (EBI)Sec-1-like_dom2    Sec1-like   
Domain families : Pfam (Sanger)Sec1 (PF00995)   
Domain families : Pfam (NCBI)pfam00995   
Conserved Domain (NCBI)VPS45
DMDM Disease mutations11311
Blocks (Seattle)VPS45
SuperfamilyQ9NRW7
Human Protein AtlasENSG00000136631
Peptide AtlasQ9NRW7
HPRD10301
IPIIPI00090327   IPI00514681   IPI01013155   IPI00922387   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRW7
IntAct (EBI)Q9NRW7
FunCoupENSG00000136631
BioGRIDVPS45
STRING (EMBL)VPS45
ZODIACVPS45
Ontologies - Pathways
QuickGOQ9NRW7
Ontology : AmiGOGolgi membrane  molecular_function  protein binding  cellular_component  Golgi apparatus  intracellular protein transport  vesicle docking involved in exocytosis  blood coagulation  endosome membrane  integral component of membrane  
Ontology : EGO-EBIGolgi membrane  molecular_function  protein binding  cellular_component  Golgi apparatus  intracellular protein transport  vesicle docking involved in exocytosis  blood coagulation  endosome membrane  integral component of membrane  
Pathways : KEGGEndocytosis   
NDEx NetworkVPS45
Atlas of Cancer Signalling NetworkVPS45
Wikipedia pathwaysVPS45
Orthology - Evolution
OrthoDB11311
GeneTree (enSembl)ENSG00000136631
Phylogenetic Trees/Animal Genes : TreeFamVPS45
HOVERGENQ9NRW7
HOGENOMQ9NRW7
Homologs : HomoloGeneVPS45
Homology/Alignments : Family Browser (UCSC)VPS45
Gene fusions - Rearrangements
Fusion: TCGARPRD2 VPS45
Fusion: TCGATARS2 VPS45
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerVPS45 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)VPS45
dbVarVPS45
ClinVarVPS45
1000_GenomesVPS45 
Exome Variant ServerVPS45
ExAC (Exome Aggregation Consortium)VPS45 (select the gene name)
Genetic variants : HAPMAP11311
Genomic Variants (DGV)VPS45 [DGVbeta]
DECIPHERVPS45 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisVPS45 
Mutations
ICGC Data PortalVPS45 
TCGA Data PortalVPS45 
Broad Tumor PortalVPS45
OASIS PortalVPS45 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICVPS45  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDVPS45
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch VPS45
DgiDB (Drug Gene Interaction Database)VPS45
DoCM (Curated mutations)VPS45 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)VPS45 (select a term)
intoGenVPS45
Cancer3DVPS45(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610035    615285   
Orphanet22437   
MedgenVPS45
Genetic Testing Registry VPS45
NextProtQ9NRW7 [Medical]
TSGene11311
GENETestsVPS45
Target ValidationVPS45
Huge Navigator VPS45 [HugePedia]
snp3D : Map Gene to Disease11311
BioCentury BCIQVPS45
ClinGenVPS45
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11311
Chemical/Pharm GKB GenePA37901
Clinical trialVPS45
Miscellaneous
canSAR (ICR)VPS45 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineVPS45
EVEXVPS45
GoPubMedVPS45
iHOPVPS45
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:43:36 CEST 2017

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