ENSG00000136631


Homo sapiens

Features
Gene ID: ENSG00000136631
  
Biological name :VPS45
  
Synonyms : Q9NRW7 / vacuolar protein sorting 45 homolog / VPS45
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.2
Gene start: 150067279
Gene end: 150145329
  
Corresponding Affymetrix probe sets: 207967_at (Human Genome U133 Plus 2.0 Array)   209268_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494763
Ensembl peptide - ENSP00000496312
Ensembl peptide - ENSP00000495981
Ensembl peptide - ENSP00000495563
Ensembl peptide - ENSP00000495148
Ensembl peptide - ENSP00000358124
Ensembl peptide - ENSP00000358126
Ensembl peptide - ENSP00000400143
Ensembl peptide - ENSP00000440690
Ensembl peptide - ENSP00000478403
Ensembl peptide - ENSP00000481356
Ensembl peptide - ENSP00000494363
Ensembl peptide - ENSP00000494741
NCBI entrez gene - 11311     See in Manteia.
OMIM - 610035
RefSeq - XM_017000164
RefSeq - NM_001279353
RefSeq - NM_001279354
RefSeq - NM_001279355
RefSeq - NM_007259
RefSeq Peptide - NP_001266282
RefSeq Peptide - NP_001266283
RefSeq Peptide - NP_001266284
RefSeq Peptide - NP_009190
swissprot - A0A087WU65
swissprot - B7Z7G7
swissprot - Q9NRW7
swissprot - A0A1B0GXI6
Ensembl - ENSG00000136631
  
Related genetic diseases (OMIM): 615285 - Neutropenia, severe congenital, 5, autosomal recessive, 615285
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 vps45ENSDARG00000061180Danio rerio
 VPS45ENSGALG00000013899Gallus gallus
 Vps45ENSMUSG00000015747Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001619  Sec1-like protein
 IPR036045  Sec1-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport NAS
 biological_processGO:0006904 vesicle docking involved in exocytosis IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISS
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Intra-Golgi traffic
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001875 Neutropenia 
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 HP:0001882 Leukopenia 
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 HP:0001903 Anemia 
Show

 HP:0001978 Extramedullary hematopoiesis 
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0010702 Increased immunoglobulin level "An abnormally increased level of immunoglobulin in blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131381 RBSN / Q9H1K0 / rabenosyn, RAB effector  / complex / reaction
 ENSG00000144566 RAB5A / P20339 / RAB5A, member RAS oncogene family  / reaction / complex






 

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