ENSMUSG00000020128


Mus musculus

Features
Gene ID: ENSMUSG00000020128
  
Biological name :Vps54
  
Synonyms : Q5SPW0 / Vps54 / VPS54 GARP complex subunit
  
Possible biological names infered from orthology : Q9P1Q0
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: A3.1
Gene start: 21239281
Gene end: 21321136
  
Corresponding Affymetrix probe sets: 10374500 (MoGene1.0st)   1418479_at (Mouse Genome 430 2.0 Array)   1439943_at (Mouse Genome 430 2.0 Array)   1449095_at (Mouse Genome 430 2.0 Array)   1456810_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000006221
Ensembl peptide - ENSMUSP00000105206
Ensembl peptide - ENSMUSP00000116739
NCBI entrez gene - 245944     See in Manteia.
MGI - MGI:2178798
RefSeq - XM_011243720
RefSeq - NM_001290628
RefSeq - NM_139061
RefSeq - XM_006514699
RefSeq Peptide - NP_001277557
RefSeq Peptide - NP_620692
swissprot - Q5SPW0
swissprot - Q5SRW8
Ensembl - ENSMUSG00000020128
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 vps54ENSDARG00000102960Danio rerio
 VPS54ENSGALG00000008847Gallus gallus
 VPS54ENSG00000143952Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR012501  Vps54-likeVacuolar protein sorting-associated protein 54, C-terminal
 IPR019515  Vacuolar protein sorting-associated protein 54, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006896 Golgi to vacuole transport IBA
 biological_processGO:0007041 lysosomal transport ISO
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0040007 growth IMP
 biological_processGO:0042147 retrograde transport, endosome to Golgi IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IMP
 biological_processGO:0050881 musculoskeletal movement IMP
 biological_processGO:0060052 neurofilament cytoskeleton organization IMP
 cellular_componentGO:0000938 GARP complex ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005802 trans-Golgi network ISO
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 molecular_functionGO:0019905 syntaxin binding IBA


Pathways (from Reactome)
Pathway description
Retrograde transport at the Trans-Golgi-Network


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000278 abnormal myocardial fiber morphology "malformed or poorly developed cardiac muscle fibers, the multinucleated muscle cells of the heart" [J:18048]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0000756 forelimb paralysis "loss of power of voluntary movement in muscles of the forlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0000956 reduced spinal cord size "smaller appearance of the spinal cord" [J:35802]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0001077 abnormal spinal nerve morphology "any anomaly, deformity, or malformation of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001515 abnormal grip strength "altered ability to grasp and hold objects, usually measured as time spent hanging from an object or wire" [J:80661]
Show

Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0001929 abnormal gametogenesis "defective formation or differentiation of germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:42324]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccnd1tm1Phin/Ccnd1tm1Phin
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002651 abnormal sciatic nerve "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002686 globozoospermia "malformation of the acrosome resulting in a round sperm head" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0002945 abnormal inhibitory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0003245 abnormal GABA neuron morphology "malformation or absence of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0003371 decreased circulating estrogen level "reduction in the blood concentration of any substance that causes development of the female reproductive organs and secondary sexual characteristics" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0003806 abnormal nucleotide metabolism "impaired regulation of nucleotide levels in either production or breakdown of these structural components of nucleic acids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0004008 abnormal GABA receptor currents "change in the measured amplitude or duration of response to stimulation of GABA receptors" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0004768 abnormal axonal transport "any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0006411 upturned snout "muzzle has a curve or tilt such that the tip points upwards" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

 MP:0008460 absent dorsal root ganglion "absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column" [MESH:A08.340.390.340, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0008571 abnormal synaptic bouton morphology "any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters" [MESH:A08.663.542.145.750]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0011987 abnormal GABAergic neuron physiology "any functional anomaly of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter" [PMID:8787741]
Show

Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0020448 increased microglial cell activation "increase in the change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form" [GO:0001774]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: involves: C57BL/6J * C57BL/Fa

 MP:0030140 facial muscle atrophy "acquired diminution of facial muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:anna]
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Allelic Composition: Vps54wr/Vps54wr
Genetic Background: multiple strains

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024799 Q3UVL4 / Q71KT5 / Tm7sf2 / transmembrane 7 superfamily member 2 / VPS51* / Q9UID3* / VPS51, GARP complex subunit*  / complex
 ENSMUSG00000017288 Vps53 / Q8CCB4 / VPS53 GARP complex subunit / Q5VIR6*  / complex
 ENSMUSG00000024319 Vps52 / Q8C754 / VPS52 GARP complex subunit / Q8N1B4*  / complex






 

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