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Aliases for VPS45 Gene

Aliases for VPS45 Gene

  • Vacuolar Protein Sorting 45 Homolog (S. Cerevisiae) 2 3
  • VPS45A 3 4 6
  • HlVps45 3 4
  • VPS45B 3 4
  • SCN5 3 6
  • Vacuolar Protein Sorting-Associated Protein 45 3
  • Vacuolar Protein Sorting 45A (Yeast Homolog) 2
  • Leucocyte Vacuolar Protein Sorting 45 3
  • Vacuolar Protein Sorting 45A (Yeast) 2
  • Vacuolar Protein Sorting 45A 3
  • H1VPS45 3
  • H-VPS45 4
  • VPS54A 3
  • VSP45A 3
  • VSP45 3
  • H1 3

External Ids for VPS45 Gene

Previous Symbols for VPS45 Gene

  • VPS45B
  • VPS45A

Summaries for VPS45 Gene

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 recurrent infections-myelofibrosis-nephromegaly syndrome and neutropenia, severe congenital, 5, autosomal recessive. Among its related pathways are Endocytosis and Hemostasis.

UniProtKB/Swiss-Prot for VPS45 Gene

  • May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network

Gene Wiki entry for VPS45 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS45 Gene

Genomics for VPS45 Gene

Genomic Location for VPS45 Gene

Start:
150,067,293 bp from pter
End:
150,145,327 bp from pter
Size:
78,035 bases
Orientation:
Plus strand

Genomic View for VPS45 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VPS45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS45 Gene

Regulatory Elements for VPS45 Gene

Proteins for VPS45 Gene

  • Protein details for VPS45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRW7-VPS45_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 45
    Protein Accession:
    Q9NRW7
    Secondary Accessions:
    • D3DUZ9
    • F5H8K1
    • Q15715
    • Q53FR8
    • Q5T4P6
    • Q9Y4Z6

    Protein attributes for VPS45 Gene

    Size:
    570 amino acids
    Molecular mass:
    65077 Da
    Quaternary structure:
    • Interacts with STX6 (By similarity). Interacts with ZFYVE20.

    Alternative splice isoforms for VPS45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS45 Gene

Proteomics data for VPS45 Gene at MOPED

Post-translational modifications for VPS45 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys371, Lys378, Lys450, and Lys483

Other Protein References for VPS45 Gene

No data available for DME Specific Peptides for VPS45 Gene

Domains for VPS45 Gene

Protein Domains for VPS45 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

VPS45_HUMAN
Family:
  • Belongs to the STXBP/unc-18/SEC1 family.:
    • Q9NRW7
genes like me logo Genes that share domains with VPS45: view

No data available for Gene Families for VPS45 Gene

Function for VPS45 Gene

Molecular function for VPS45 Gene

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

Gene Ontology (GO) - Molecular Function for VPS45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with VPS45: view

Phenotypes for VPS45 Gene

GenomeRNAi human phenotypes for VPS45:
genes like me logo Genes that share phenotypes with VPS45: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for VPS45 Gene

Localization for VPS45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS45 Gene

Golgi apparatus membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Note=Associated with Golgi/endosomal vesicles and the trans-Golgi network. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VPS45 Gene COMPARTMENTS Subcellular localization image for VPS45 gene
Compartment Confidence
endosome 5
golgi apparatus 5
cytosol 3
nucleus 2
vacuole 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for VPS45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus ISS --
GO:0010008 endosome membrane TAS --
GO:0016021 integral component of membrane ISS --
genes like me logo Genes that share ontologies with VPS45: view

Pathways for VPS45 Gene

genes like me logo Genes that share pathways with VPS45: view

Pathways by source for VPS45 Gene

Gene Ontology (GO) - Biological Process for VPS45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport NAS 10404641
GO:0006904 vesicle docking involved in exocytosis IEA --
GO:0007596 blood coagulation TAS --
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with VPS45: view

Transcripts for VPS45 Gene

Unigene Clusters for VPS45 Gene

Vacuolar protein sorting 45 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VPS45 Gene

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: - - -
SP6: -
SP7:
SP8: - -
SP9:
SP10: - - - - -

ExUns: 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for VPS45 Gene

GeneLoc Exon Structure for
VPS45
ECgene alternative splicing isoforms for
VPS45

Expression for VPS45 Gene

mRNA expression in normal human tissues for VPS45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VPS45 Gene

SOURCE GeneReport for Unigene cluster for VPS45 Gene Hs.443750

mRNA Expression by UniProt/SwissProt for VPS45 Gene

Q9NRW7-VPS45_HUMAN
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
genes like me logo Genes that share expressions with VPS45: view

Orthologs for VPS45 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS45 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS45 36
  • 99.77 (n)
  • 99.82 (a)
VPS45 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VPS45 36
  • 93.92 (n)
  • 98.07 (a)
VPS45 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VPS45 36
  • 94.62 (n)
  • 98.95 (a)
VPS45 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps45 36
  • 90.88 (n)
  • 97.02 (a)
Vps45 16
Vps45 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VPS45 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VPS45 37
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps45 36
  • 90.47 (n)
  • 97.19 (a)
chicken
(Gallus gallus)
Aves VPS45 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS45 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8703 36
tropical clawed frog
(Silurana tropicalis)
Amphibia vps45 36
  • 76.08 (n)
  • 87.19 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.15874 36
vps45 36
  • 73.71 (n)
  • 82.39 (a)
vps45 37
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003980 36
  • 57.32 (n)
  • 56.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vps45 36
  • 56.72 (n)
  • 55.33 (a)
Vps45 37
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vps-45 36
  • 51.61 (n)
  • 48.96 (a)
vps-45 37
  • 47 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL053W 36
  • 48.05 (n)
  • 38.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS45 36
  • 49.87 (n)
  • 40.15 (a)
VPS45 37
  • 36 (a)
OneToOne
VPS45 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E18833g 36
  • 47.53 (n)
  • 37.38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS45 36
  • 53.86 (n)
  • 47.83 (a)
rice
(Oryza sativa)
Liliopsida Os02g0437800 36
  • 53.33 (n)
  • 47.85 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06192 36
  • 53.46 (n)
  • 51.19 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps45 36
  • 50.58 (n)
  • 43.49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10162 36
Species with no ortholog for VPS45:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS45 Gene

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

Paralogs for VPS45 Gene

Selected SIMAP similar genes for VPS45 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with VPS45: view

No data available for Paralogs for VPS45 Gene

Variants for VPS45 Gene

Sequence variations from dbSNP and Humsavar for VPS45 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1271687 -- 150,088,972(-) tcctt(A/T)aaaaa intron-variant
rs1824847 -- 150,086,981(-) TCCGT(C/T)TTTTT intron-variant
rs1975957 -- 150,132,108(-) GCAGG(C/G)GTGTC intron-variant
rs2039800 -- 150,123,635(+) AGGTC(A/G)ATCAA intron-variant
rs2086203 -- 150,102,679(+) ggaat(A/G)ttagg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VPS45 Gene

Variant ID Type Subtype PubMed ID
nsv831537 CNV Loss 17160897
esv2605621 CNV Deletion 19546169
esv2061124 CNV Deletion 18987734

Relevant External Links for VPS45 Gene

HapMap Linkage Disequilibrium report
VPS45
Human Gene Mutation Database (HGMD)
VPS45

Disorders for VPS45 Gene

(1) OMIM Diseases for VPS45 Gene (610035)

UniProtKB/Swiss-Prot

VPS45_HUMAN
  • 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:0000269 PubMed:23738510}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with VPS45: view

Publications for VPS45 Gene

  1. Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking. (PMID: 8996080) Pevsner J. … Scheller R.H. (Gene 1996) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A congenital neutrophil defect syndrome associated with mutations in VPS45. (PMID: 23738510) Vilboux T. … Somech R. (N. Engl. J. Med. 2013) 3 4
  4. Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (hlVps45). (PMID: 10404641) Rajasekariah P. … Sutherland G.R. (Int. J. Biochem. Cell Biol. 1999) 3 4
  5. Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain. (PMID: 11062261) Nielsen E. … Zerial M. (J. Cell Biol. 2000) 3 4

Products for VPS45 Gene

Sources for VPS45 Gene

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