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Vps54
Gene Detail
Symbol

Name
ID
Vps54
vacuolar protein sorting 54 (yeast)
MGI:2178798
Synonyms
5330404P15Rik, mSLP8, Vps54l, wr
Feature Type
protein coding gene
Genetic Map
Chromosome 11
13.89 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(14)
Sequence Map
Chr11:21239281-21321136 bp, + strand
From VEGA annotation of GRCm38

  81856 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5605  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Vps54

Human
homologs
Human Homolog VPS54, vacuolar protein sorting 54 homolog (S. cerevisiae)
NCBI Gene ID 51542
neXtProt AC  NX_Q9P1Q0
Human Synonyms  HCC8, hVps54L, PPP1R164, SLP-8p, VPS54L, WR
Human Chr (Location)  2p13-p14; chr2:63892146-64019355 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(326) : Gene trapped(325) Spontaneous(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.
 
Human Diseases Modeled Using Mouse Vps54 (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Vps54 interacts with 328 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process Golgi to vacuole transport, growth, ...
Component GARP complex, Golgi apparatus, ...
Function syntaxin binding
External Resources: FuncBase
Expression
cDNA source data(102)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(106) Genomic(1) cDNA(105)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000005242 (Evidence)
Ensembl Gene ModelENSMUSG00000020128 (Evidence)
Entrez Gene245944 (Evidence)
UniGene170103
DFCITC1683775, TC1668363, TC1576625, TC1621292
DoTSDT.101319112, DT.40151105, DT.110513519, DT.529458, DT.91335522
NIA Mouse Gene IndexU012362, U323422
PDB3N1E, 3N1B
Consensus CDS ProjectCCDS24463.1, CCDS70147.1
International Mouse Knockout Project StatusVps54
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005242 VEGA Gene Model | MGI Sequence Detail 81856 C57BL/6J ±  kb
transcript OTTMUST00000011688 VEGA | MGI Sequence Detail 4323 Not Applicable 
polypeptide OTTMUSP00000005421 VEGA | MGI Sequence Detail 977 Not Applicable 

For the selected sequences
All sequences(72) RefSeq(9) UniProt(9)
Polymorphisms
SNPs within 2kb(258 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019515 Vacuolar protein sorting-associated protein 54
InterPro IPR012501 Vps54-like
Protein Ontology PR:000017346 vacuolar protein sorting-associated protein 54
References
(Earliest) J:165 Falconer DS, Wobbler (wr). Mouse News Lett. 1956;15:23
(Latest) J:209863 Thielsen KD, et al., The Wobbler mouse model of amyotrophic lateral sclerosis (ALS) displays hippocampal hyperexcitability, and reduced number of interneurons, but no presynaptic vesicle release impairments. PLoS One. 2013;8(12):e82767
All references(154)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-15459, MGI:2443077, MGI:98964

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory