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VPS45 Gene

protein-coding   GIFtS: 61
GCID: GC01P150039

Vacuolar Protein Sorting 45 Homolog (S. Cerevisiae)

(Previous names: vacuolar protein sorting 45A (yeast homolog), vacuolar protein...)
(Previous symbols: VPS45B, VPS45A)
  See VPS45-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Vacuolar Protein Sorting 45 Homolog (S. Cerevisiae)1 2     H1VPS452
VPS45A1 2 3 5     VPS54A2
VPS45B1 2 3     VSP452
hlVps452 3     VSP45A2
SCN52 5     Leucocyte Vacuolar Protein Sorting 452
Vacuolar Protein Sorting 45A (Yeast Homolog)1     Vacuolar Protein Sorting 45A2
Vacuolar Protein Sorting 45A (Yeast)1     Vacuolar Protein Sorting-Associated Protein 452
H12     h-VPS453

External Ids:    HGNC: 145791   Entrez Gene: 113112   Ensembl: ENSG000001366317   OMIM: 6100355   UniProtKB: Q9NRW73   
ORGUL members:         

Export aliases for VPS45 gene to outside databases

Previous GC identifers: GC01P148306 GC01P121419


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS45 Gene:
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)

GeneCards Summary for VPS45 Gene:
VPS45 (vacuolar protein sorting 45 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS45 include neutropenia, severe congenital, 5, autosomal recessive, and neutropenia.

UniProtKB/Swiss-Prot: VPS45_HUMAN, Q9NRW7
Function: May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi
network

Gene Wiki entry for VPS45 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS45 gene promoter:
         Nkx3-1   Nkx3-1 v4   Brachyury   Nkx3-1 v1   STAT5A   IRF-1   Nkx3-1 v2   Nkx3-1 v3   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS45 promoter sequence
   Search Chromatin IP Primers for VPS45

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS45


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.2

VPS45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS45 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P150039:  view genomic region     (about GC identifiers)

Start:
150,039,342 bp from pter      End:
150,117,505 bp from pter
Size:
78,164 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VPS45_HUMAN, Q9NRW7 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 45  
Size: 570 amino acids; 65077 Da
Subunit: Interacts with STX6 (By similarity). Interacts with ZFYVE20
Secondary accessions: D3DUZ9 Q15715 Q5T4P6 Q9Y4Z6

Explore the universe of human proteins at neXtProt for VPS45: NX_Q9NRW7

Explore proteomics data for VPS45 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys371, Lys378, Lys450, Lys483
  • Modification sites at PhosphoSitePlus

  • See VPS45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001266282.1  NP_001266283.1  NP_001266284.1  NP_009190.2  

    ENSEMBL proteins: 
     ENSP00000358126   ENSP00000400143   ENSP00000440690   ENSP00000358124  
    Reactome Protein details: Q9NRW7

    VPS45 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001619 Sec1-like
     IPR027482 Sec-1-like_dom2

    Graphical View of Domain Structure for InterPro Entry Q9NRW7

    ProtoNet protein and cluster: Q9NRW7

    1 Blocks protein domain: IPB001619 Sec1-like protein

    UniProtKB/Swiss-Prot: VPS45_HUMAN, Q9NRW7
    Similarity: Belongs to the STXBP/unc-18/SEC1 family


    Find genes that share domains with VPS45           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPS45_HUMAN, Q9NRW7
    Function: May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi
    network

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with VPS45           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS45:
     Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VPS45

    miRNA
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    miRTarBase miRNAs that target VPS45:
    hsa-mir-15a-5p (MIRT003873), hsa-mir-99a-5p (MIRT048645), hsa-mir-34a-5p (MIRT025396), hsa-mir-16-5p (MIRT004367), hsa-mir-186-5p (MIRT045187), hsa-mir-100-5p (MIRT048519)

    Block miRNA regulation of human, mouse, rat VPS45 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate VPS45:
    hsa-miR-1290 hsa-miR-206 hsa-miR-485-3p hsa-miR-1 hsa-miR-619 hsa-miR-613 hsa-miR-1286 hsa-miR-143*
    SwitchGear 3'UTR luciferase reporter plasmidVPS45 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPS45_HUMAN, Q9NRW7: Golgi apparatus membrane; Peripheral membrane protein (By similarity). Endosome membrane;
    Peripheral membrane protein (By similarity). Note=Associated with Golgi/endosomal vesicles and the trans-Golgi
    network (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    cytosol3
    nucleus2
    vacuole2
    cytoskeleton1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005575cellular_component ND--
    GO:0005794Golgi apparatus ISS--
    GO:0010008endosome membrane TAS--
    GO:0016021integral component of membrane ISS--

    Find genes that share ontologies with VPS45           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VPS45 About    
    See pathways by source

    SuperPathContained pathways About
    1Delta508 CFTR traffic Sorting endosome formation in CF
    Normal wtCFTR traffic Sorting endosome formation0.00
    Delta508 CFTR traffic Sorting endosome formation in CF
    2Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    3Hemostasis
    Hemostasis0.43
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    5Endocytosis
    Endocytosis


    Find genes that share SuperPaths with VPS45           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for VPS45
        Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle


    1 Reactome Pathway for VPS45
        Factors involved in megakaryocyte development and platelet production


    1 Kegg Pathway  (Kegg details for VPS45):
        Endocytosis

        Pathway & Disease-focused RT2 Profiler PCR Array including VPS45: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for VPS45

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VPS45 (Q9NRW73 ENSP000003581264) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NAPBQ9H1153, ENSP000003662254I2D: score=4 STRING: ENSP00000366225
    PSMD3O432423, ENSP000002646394I2D: score=3 STRING: ENSP00000264639
    VPS18Q9P2533, ENSP000002205094I2D: score=3 STRING: ENSP00000220509
    STX16O146623, ENSP000003601834I2D: score=2 STRING: ENSP00000360183
    AP3D1O146173, ENSP000003440554I2D: score=1 STRING: ENSP00000344055
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport NAS10404641
    GO:0006904vesicle docking involved in exocytosis IEA--
    GO:0007596blood coagulation TAS--
    GO:0016192vesicle-mediated transport ----

    Find genes that share ontologies with VPS45           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VPS45



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VPS45 gene (4 alternative transcripts): 
    NM_001279353.1  NM_001279354.1  NM_001279355.1  NM_007259.4  

    Unigene Cluster for VPS45:

    Vacuolar protein sorting 45 homolog (S. cerevisiae)
    Hs.443750  [show with all ESTs]
    Unigene Representative Sequence: NM_007259
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369130(uc010pbr.1 uc009wlm.1 uc010pbp.1 uc001etp.3 uc010pbq.2 uc001etq.3)
    ENST00000462852 ENST00000478999 ENST00000460366 ENST00000497638 ENST00000419023
    ENST00000477558 ENST00000472756 ENST00000491789 ENST00000484306 ENST00000535106
    ENST00000369128(uc010pbs.2)
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate VPS45:
    hsa-miR-1290 hsa-miR-206 hsa-miR-485-3p hsa-miR-1 hsa-miR-619 hsa-miR-613 hsa-miR-1286 hsa-miR-143*
    SwitchGear 3'UTR luciferase reporter plasmidVPS45 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: VPS45 (NM_007259)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VPS45
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      QuantiFast Probe-based Assays in human, mouse, rat VPS45
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    eBioscience FlowRNA Probe Sets ( VA1-12055) for VPS45 

    Additional mRNA sequence: 

    AF165513.1 AJ133421.1 AK023170.1 AK223214.1 AK293555.1 AK295529.1 AK298786.1 AK298835.1 
    AK301994.1 AK307949.1 AY453586.1 BC012932.1 BC028382.2 

    19 DOTS entries:

    DT.447459  DT.95284029  DT.95194412  DT.100803657  DT.75164560  DT.95194417  DT.95239400  DT.121414882 
    DT.416990  DT.97845520  DT.99988117  DT.40113939  DT.92463595  DT.95194400  DT.95194413  DT.100803655 
    DT.40132558  DT.92463612  DT.95194414 

    Selected AceView cDNA sequences (see all 253):

    AI432664 CN480837 BQ775390 BM727333 BQ959877 AA769317 C01810 AI128153 
    BG030767 BU188889 AW117623 BM724061 BP375448 CA433698 BQ955385 AW241633 
    BF056018 BU615701 BX441316 AU131412 BC028382 AA291962 BQ001991 AI057492 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS45 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a ·
    SP1:                                            -           -                 -           -                 -     -                                             
    SP2:                                            -           -                 -     -     -     -     -     -     -                                             
    SP3:                                                        -                 -           -                 -     -                                             
    SP4:                    -     -     -     -     -           -                 -           -                                                                     
    SP5:                                            -           -                 -                                                                                 

    ExUns: 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                    -                     
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for VPS45

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    VPS45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGACCACA
    VPS45 Expression
    About this image


    VPS45 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    VPS45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS45 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443750

    UniProtKB/Swiss-Prot: VPS45_HUMAN, Q9NRW7
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including VPS45: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS45

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VPS45 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps451 , 5 vacuolar protein sorting 45 (yeast)1, 5 90.88(n)1
    97.02(a)1
      3 (41.65 cM)5
    223651  NM_013841.31  NP_038869.11 
     959998325 
    chicken
    (Gallus gallus)
    Aves VPS456
    Gallus gallus vacuolar protein sorting 45 homolog ...
    90(a)
    1 ↔ 1
    25(89665-111313)
    lizard
    (Anolis carolinensis)
    Reptilia VPS456
    vacuolar protein sorting 45 homolog (S. cerevisiae...
    81(a)
    1 ↔ 1
    GL345017.1(21-12645)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.87032 Xenopus laevis transcribed sequence with moderate similarity more 78.17(n)    BU912999.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.158742 Transcribed sequence with moderate similarity to protein more 75.23(n)    57089617 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vps451 Vacuolar protein sorting 45 56.72(n)
    55.33(a)
      41153  NM_141652.2  NP_649909.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-451 vps-45 51.61(n)
    48.96(a)
      180449  NM_171622.4  NP_741714.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS45(YGL095C)4
    VPS451
    Protein of the Sec1p/Munc-18 family, essential for more4
    VPS451
    49.87(n)1
    40.15(a)1
      7(330607-328874)4
    8527851, 4  NP_011420.31  NP_011420.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS451 VPS45 53.86(n)
    47.83(a)
      844050  NM_106364.1  NP_565150.1 
    rice
    (Oryza sativa)
    Liliopsida AK066001.12   -- 77.44(n)    AK066001.1 


    ENSEMBL Gene Tree for VPS45 (if available)
    TreeFam Gene Tree for VPS45 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VPS45 gene
    2 SIMAP similar genes for VPS45 using alignment to 4 protein entries:     VPS45_HUMAN (see all proteins):
    ADAM10    ARMC6

    Find genes that share paralogs with VPS45           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for VPS45 (see all 1519)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698664
    Neutropenia, severe congenital 5, autosomal recessive (SCN5)4--see VAR_0698662 E K mis40--------
    VAR_0698654
    Neutropenia, severe congenital 5, autosomal recessive (SCN5)4--see VAR_0698652 T N mis40--------
    rs1854438711,2
    C--121497880(+) AATCAC/TTTAAT 1 -- ds50010--------
    rs1504996191,2
    --150037406(+) TCTATA/CCTTAA 1 -- us2k10--------
    rs1882123731,2
    --150037411(+) CCTTAA/CAGCAC 1 -- us2k10--------
    rs1807018981,2
    C--150037453(+) TCAAGA/TTGAAG 1 -- us2k10--------
    rs75209301,2
    C,F,A,H--150037560(+) GTTTAC/TTTATA 1 -- us2k1 tfbs321Minor allele frequency- T:0.37NS EA NA WA CSA 2010
    rs557300681,2
    C,F--150037636(+) AAGTAA/CCTGGG 1 -- us2k12Minor allele frequency- C:0.12WA 120
    rs1437343331,2
    C--150037774(+) CTTCA-/GGAAGG 1 -- us2k10--------
    rs1398152161,2
    --150037788(+) GATGCA/TGTCTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VPS45 (150039342 - 150117505 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for VPS45:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2061124CNV Deletion18987734
    esv2605621CNV Deletion19546169
    nsv831537CNV Loss17160897

    Human Gene Mutation Database (HGMD): VPS45
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS45
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS45

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610035   
    OMIM disorders: 615285  
    UniProtKB/Swiss-Prot: VPS45_HUMAN, Q9NRW7
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 2 diseases for VPS45:    
    About MalaCards
    neutropenia, severe congenital, 5, autosomal recessive    neutropenia


    Find genes that share disorders with VPS45           About GenesLikeMe


    Export disorders for VPS45 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for VPS45 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with VPS45)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. (PubMed id 8996080)1, 2, 3 Pevsner J.... Scheller R.H. (Gene 1996)
    2. A congenital neutrophil defect syndrome associated with mutations in VPS45. (PubMed id 23738510)1, 2 Vilboux T....Somech R. (N. Engl. J. Med. 2013)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes. (PubMed id 11788822)1, 2 de Renzis S.... Zerial M. (Nat. Cell Biol. 2002)
    6. Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain. (PubMed id 11062261)1, 2 Nielsen E.... Zerial M. (J. Cell Biol. 2000)
    7. Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (hlVps45). (PubMed id 10404641)1, 2 Rajasekariah P.... Sutherland G.R. (Int. J. Biochem. Cell Biol. 1999)
    8. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. (PubMed id 23599270)1 Stepensky P....Mevorach D. (Blood 2013)
    9. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11311 HGNC: 14579 AceView: VPS45A Ensembl:ENSG00000136631 euGenes: HUgn11311
    ECgene: VPS45 Kegg: 11311 H-InvDB: VPS45

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VPS45 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for VPS45 gene:
    Search GeneIP for patents involving VPS45

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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