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 in Mice Using Vps54 (2)    Mutations Annotated to Human Diseases (1)   

Interactions

Vps54 interacts with 328 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)

View All

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 Model	OTTMUSG00000005242 (Evidence)
Ensembl Gene Model	ENSMUSG00000020128 (Evidence)
Entrez Gene	245944 (Evidence)
UniGene	170103
DFCI	TC1576625, TC1621292, TC1683775, TC1668363
DoTS	DT.101319112, DT.91335522, DT.529458, DT.40151105, DT.110513519
NIA Mouse Gene Index	U323422, U012362
PDB	3N1E, 3N1B
Consensus CDS Project	CCDS24463.1, CCDS70147.1
International Mouse Knockout Project Status	Vps54

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005242	VEGA Gene Model | MGI Sequence Detail	81856	C57BL/6J
transcript	OTTMUST00000011688	VEGA | MGI Sequence Detail	4323	Not Applicable
polypeptide	OTTMUSP00000005421	VEGA | MGI Sequence Detail	977	Not Applicable

All sequences(68) RefSeq(9) UniProt(5)

Polymorphisms

SNPs within 2kb(258 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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