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Aliases for VPS51 Gene

Aliases for VPS51 Gene

  • Vacuolar Protein Sorting 51 Homolog (S. Cerevisiae) 2 3
  • Another New Gene 2 Protein 3 4
  • Protein Fat-Free Homolog 3 4
  • C11orf2 3 4
  • C11orf3 3 4
  • ANG2 3 4
  • FFR 3 4
  • Chromosome 11 Open Reading Frame 3 2
  • Chromosome 11 Open Reading Frame 2 2
  • Fat-Free Homolog (Zebrafish) 2
  • ANG3 3

External Ids for VPS51 Gene

Previous HGNC Symbols for VPS51 Gene

  • C11orf3
  • C11orf2

Previous GeneCards Identifiers for VPS51 Gene

  • GC11P064864

Summaries for VPS51 Gene

Entrez Gene Summary for VPS51 Gene

  • This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for VPS51 Gene

VPS51 (Vacuolar Protein Sorting 51 Homolog (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with VPS51 include amusia.

UniProtKB/Swiss-Prot for VPS51 Gene

  • Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS51 Gene

Genomics for VPS51 Gene

Genomic Location for VPS51 Gene

Chromosome:
11
Start:
65,089,324 bp from pter
End:
65,111,860 bp from pter
Size:
22,537 bases
Orientation:
Plus strand

Genomic View for VPS51 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VPS51 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS51 Gene

No data available for Regulatory Elements for VPS51 Gene

Proteins for VPS51 Gene

  • Protein details for VPS51 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UID3-VPS51_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 51 homolog
    Protein Accession:
    Q9UID3
    Secondary Accessions:
    • Q6PJV5
    • Q7L8A6
    • Q8WZ35
    • Q96DF4
    • Q96GR3

    Protein attributes for VPS51 Gene

    Size:
    782 amino acids
    Molecular mass:
    86042 Da
    Quaternary structure:
    • Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (PubMed:20685960). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and CCDC132/Syndetin (PubMed:25799061). Interacts with STX6 (PubMed:20685960).

    Three dimensional structures from OCA and Proteopedia for VPS51 Gene

    Alternative splice isoforms for VPS51 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS51 Gene

Proteomics data for VPS51 Gene at MOPED

Post-translational modifications for VPS51 Gene

  • Ubiquitination at Lys 114, Lys 166, Lys 176, and Lys 189
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for VPS51 Gene

Domains & Families for VPS51 Gene

Protein Domains for VPS51 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS51 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UID3

UniProtKB/Swiss-Prot:

VPS51_HUMAN :
  • Belongs to the VPS51 family.
Family:
  • Belongs to the VPS51 family.
genes like me logo Genes that share domains with VPS51: view

No data available for Gene Families for VPS51 Gene

Function for VPS51 Gene

Molecular function for VPS51 Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN (PubMed:20685960). Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061).

Gene Ontology (GO) - Molecular Function for VPS51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 20685960
genes like me logo Genes that share ontologies with VPS51: view

Phenotypes for VPS51 Gene

genes like me logo Genes that share phenotypes with VPS51: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VPS51

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS51 Gene

Localization for VPS51 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS51 Gene

Golgi apparatus, trans-Golgi network. Recycling endosome. Note=Localizes to the trans-Golgi network as part of the GARP complex, while it localizes to recycling endosomes as part of the EARP complex (PubMed:25799061). {ECO:0000269 PubMed:25799061}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VPS51 Gene COMPARTMENTS Subcellular localization image for VPS51 gene
Compartment Confidence
endosome 5
golgi apparatus 5

Gene Ontology (GO) - Cellular Components for VPS51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst --
GO:0000938 GARP complex IDA 20685960
GO:0005794 Golgi apparatus IDA 20685960
GO:0016021 integral component of membrane TAS 9615229
GO:0017119 Golgi transport complex --
genes like me logo Genes that share ontologies with VPS51: view

Pathways & Interactions for VPS51 Gene

SuperPathways for VPS51 Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0006893 Golgi to plasma membrane transport --
GO:0006914 autophagy IMP 20685960
GO:0015031 protein transport IEA --
GO:0032456 endocytic recycling IMP 25799061
genes like me logo Genes that share ontologies with VPS51: view

No data available for Pathways by source and SIGNOR curated interactions for VPS51 Gene

Drugs & Compounds for VPS51 Gene

No Compound Related Data Available

Transcripts for VPS51 Gene

Unigene Clusters for VPS51 Gene

Vacuolar protein sorting 51 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VPS51

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS51 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a ·
SP1: - - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6:
SP7:
SP8: - - - - - -
SP9: - -
SP10: - - - - -
SP11:
SP12: -

ExUns: 11b ^ 12a · 12b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for VPS51 Gene

GeneLoc Exon Structure for
VPS51
ECgene alternative splicing isoforms for
VPS51

Expression for VPS51 Gene

mRNA expression in normal human tissues for VPS51 Gene

Protein differential expression in normal tissues from HIPED for VPS51 Gene

This gene is overexpressed in Heart (23.2) and Bone (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VPS51 Gene



SOURCE GeneReport for Unigene cluster for VPS51 Gene Hs.277517

genes like me logo Genes that share expression patterns with VPS51: view

Protein tissue co-expression partners for VPS51 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for VPS51 Gene

Orthologs for VPS51 Gene

This gene was present in the common ancestor of animals.

Orthologs for VPS51 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VPS51 35
  • 91.35 (n)
  • 97.38 (a)
VPS51 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VPS51 35
  • 89.7 (n)
  • 96.62 (a)
VPS51 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps51 35
  • 88.51 (n)
  • 96.07 (a)
Vps51 16
Vps51 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VPS51 35
  • 99.62 (n)
  • 99.62 (a)
VPS51 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps51 35
  • 88.73 (n)
  • 95.67 (a)
oppossum
(Monodelphis domestica)
Mammalia VPS51 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS51 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS51 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps51 35
  • 66.8 (n)
  • 72.13 (a)
zebrafish
(Danio rerio)
Actinopterygii vps51 35
  • 68.03 (n)
  • 71.77 (a)
wufi30b05 35
vps51 36
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5315 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005584 35
  • 56.6 (n)
  • 47.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15087 35
  • 52.66 (n)
  • 44.54 (a)
CG15087 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vps-51 35
  • 39.53 (n)
  • 30.68 (a)
vps-51 36
  • 29 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13318 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for VPS51:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VPS51 Gene

ENSEMBL:
Gene Tree for VPS51 (if available)
TreeFam:
Gene Tree for VPS51 (if available)

Paralogs for VPS51 Gene

genes like me logo Genes that share paralogs with VPS51: view

No data available for Paralogs for VPS51 Gene

Variants for VPS51 Gene

Sequence variations from dbSNP and Humsavar for VPS51 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs544944 -- 65,094,762(-) GGAGT(A/G)CAGTG upstream-variant-2KB
rs550470 -- 65,095,354(+) ttctt(C/T)tgcct upstream-variant-2KB
rs1196051 -- 65,102,859(+) TTTTC(C/T)TGCCA intron-variant
rs1196052 -- 65,105,371(+) gcgac(A/G)gaggg intron-variant
rs1209621 -- 65,103,307(+) TATGG(C/T)CCCAA intron-variant

Variation tolerance for VPS51 Gene

Residual Variation Intolerance Score: 17.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS51 Gene

HapMap Linkage Disequilibrium report
VPS51

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for VPS51 Gene

Disorders for VPS51 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VPS51 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amusia
  • receptive amusia
- elite association
Search VPS51 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VPS51

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS51
genes like me logo Genes that share disorders with VPS51: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS51 Gene

Publications for VPS51 Gene

  1. Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex. (PMID: 20685960) Perez-Victoria F.J. … Bonifacino J.S. (Mol. Biol. Cell 2010) 2 67
  2. Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. (PMID: 9286704) Lemmens I. … Thakker R.V. (Genomics 1997) 2 67
  3. EARP is a multisubunit tethering complex involved in endocytic recycling. (PMID: 25799061) Schindler C. … Bonifacino J.S. (Nat. Cell Biol. 2015) 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67

Products for VPS51 Gene

Sources for VPS51 Gene

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