Aliases for VPS52 Gene
Aliases for VPS52 Gene
External Ids for VPS52 Gene
- HGNC: 10518
- Entrez Gene: 6293
- Ensembl: ENSG00000223501
- OMIM: 603443
- UniProtKB: Q8N1B4
Previous HGNC Symbols for VPS52 Gene
- SACM2L
Previous GeneCards Identifiers for VPS52 Gene
- GC06M033210
- GC06M033264
- GC06M033326
- GC06M033218
- GC06M032960
Summaries for VPS52 Gene
-
This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for VPS52 Gene
VPS52 (VPS52, GARP Complex Subunit) is a Protein Coding gene. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. GO annotations related to this gene include syntaxin binding.
UniProtKB/Swiss-Prot for VPS52 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 the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). 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 , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS52 Gene
Genomics for VPS52 Gene
Regulatory Elements for VPS52 Gene
Enhancers for VPS52 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around VPS52 on UCSC Golden Path with GeneCards custom track
Promoters for VPS52 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around VPS52 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the VPS52 gene promoter:
Regulatory Element Products
Genomic Location for VPS52 Gene
- Chromosome:
- 6
- Start:
- 33,250,272 bp from pter
- End:
- 33,272,047 bp from pter
- Size:
- 21,776 bases
- Orientation:
- Minus strand
Genomic View for VPS52 Gene
Genes around VPS52 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.32 by Ensembl
- 6p21.3 by Entrez Gene
- 6p21.3 by HGNC
VPS52 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for VPS52 Gene
Proteins for VPS52 Gene
-
Protein details for VPS52 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N1B4-VPS52_HUMAN
- Recommended name:
- Vacuolar protein sorting-associated protein 52 homolog
- Protein Accession:
- Q8N1B4
- A2BF38
- B0UZZ4
- B4DNI9
- Q53GR4
- Q5JPA0
- Q5SQW1
- Q8IUN6
- Q9NPT5
Protein attributes for VPS52 Gene
- Size:
- 723 amino acids
- Molecular mass:
- 82221 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:15878329, PubMed:20685960). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (PubMed:25799061). Interacts with RAB6A and STX10 (PubMed:15878329, PubMed:20685960).
- SequenceCaution:
-
- Sequence=CAI95619.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for VPS52 Gene
Post-translational modifications for VPS52 Gene
Other Protein References for VPS52 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for VPS52
- Novus Biologicals Antibodies for VPS52
- Invitrogen Antibodies for VPS52
- antibodies-online Antibodies for VPS52: See all 28
- GeneTex VPS52 antibody for VPS52
-
Santa Cruz Biotechnology (SCBT) Antibodies for VPS52
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for VPS52
- Origene Custom Protein Services for VPS52
- antibodies-online Proteins for VPS52: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for VPS52
Assay Products
No data available for DME Specific Peptides for VPS52 Gene
Domains & Families for VPS52 Gene
Suggested Antigen Peptide Sequences for VPS52 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8N1B4- Family:
-
- Belongs to the VPS52 family.
No data available for Gene Families for VPS52 Gene
Function for VPS52 Gene
Molecular function for VPS52 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 the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). 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).
Phenotypes for VPS52 Gene
- MGI mutant phenotypes for VPS52:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for VPS52:
Animal Models for VPS52 Gene
- MGI Knock Outs for VPS52:
-
- Vps52 tm1.2Kab
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for VPS52 gene
-
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- Search ViGene Biosciences for VPS52
CRISPR Products
-
OriGene CRISPR knockouts for VPS52
-
Santa Cruz Biotechnology (SCBT) CRISPR for VPS52
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miRNA for VPS52 Gene
- miRTarBase miRNAs that target VPS52
-
- hsa-mir-4728-5p (MIRT491942)
- hsa-mir-607 (MIRT491943)
- hsa-mir-3591-5p (MIRT491944)
- hsa-mir-628-5p (MIRT491945)
- hsa-mir-3671 (MIRT491946)
- hsa-mir-6807-5p (MIRT491947)
- hsa-mir-124-5p (MIRT491948)
- hsa-mir-3175 (MIRT491949)
- hsa-mir-6731-5p (MIRT491950)
- hsa-mir-8085 (MIRT491951)
- hsa-mir-8077 (MIRT491952)
- hsa-mir-7160-5p (MIRT491953)
- hsa-mir-655-5p (MIRT491954)
- hsa-mir-4663 (MIRT491955)
- hsa-mir-665 (MIRT491956)
- hsa-mir-4459 (MIRT491957)
- hsa-mir-4779 (MIRT491958)
- hsa-mir-4255 (MIRT491959)
- hsa-mir-7161-3p (MIRT491960)
- hsa-mir-302f (MIRT491961)
- hsa-mir-142-3p (MIRT491962)
- hsa-mir-513b-5p (MIRT651663)
- hsa-mir-6829-3p (MIRT651664)
- hsa-mir-6791-3p (MIRT651665)
- hsa-mir-4252 (MIRT651666)
- hsa-mir-205-5p (MIRT651667)
- hsa-mir-4719 (MIRT651668)
- hsa-mir-7853-5p (MIRT651669)
- hsa-mir-105-5p (MIRT651670)
- hsa-mir-330-3p (MIRT651671)
- hsa-mir-7109-3p (MIRT651672)
- hsa-mir-6771-3p (MIRT651673)
miRNA Products
- Search ViGene Biosciences for VPS52
Clone Products
- OriGene clones in human for VPS52
- OriGene ORF clones in human,mouse,rat for VPS52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
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- XM_011514797
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- XM_011548459
- NM_022553
- NM_001289174
- NM_001289175
- NM_001289176
- Sino Biological Human cDNA Clone for VPS52
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for VPS52 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for VPS52 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VPS52 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS52 Gene
Localization for VPS52 Gene
Subcellular locations from UniProtKB/Swiss-Prot for VPS52 Gene
- Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. 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}.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| golgi apparatus | 5 |
| cytosol | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| plasma membrane | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000938 | GARP complex | IDA | 25799061 |
Pathways & Interactions for VPS52 Gene
More details on SuperPathways for VPS52Pathways by source for VPS52 Gene
4 Reactome pathways for VPS52 Gene
Interacting Proteins for VPS52 Gene
Selected Interacting proteins:
Q8N1B4-VPS52_HUMAN
ENSP00000409952
for VPS52 Gene via
MINT
STRING
UniProtKB
I2D
No data available for SIGNOR curated interactions for VPS52 Gene
Transcripts for VPS52 Gene
mRNA/cDNA for VPS52 Gene
- (28) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (325) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for VPS52 Gene
CRISPR Products
-
OriGene CRISPR knockouts for VPS52
-
Santa Cruz Biotechnology (SCBT) CRISPR for VPS52
- GenScript: Design CRISPR guide RNA sequences for VPS52
miRNA Products
- Search ViGene Biosciences for VPS52
Clone Products
- OriGene clones in human for VPS52
- OriGene ORF clones in human,mouse,rat for VPS52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA clones in your preferred vector
- XM_011514797
- XM_011514798
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- XM_011547271
- XM_011547272
- XM_011547273
- XM_011547673
- XM_011547674
- XM_011547675
- XM_011547676
- XM_011548072
- XM_011548073
- XM_011548074
- XM_011548075
- XM_011548261
- XM_011548262
- XM_011548263
- XM_011548264
- XM_011548456
- XM_011548457
- XM_011548458
- XM_011548459
- NM_022553
- NM_001289174
- NM_001289175
- NM_001289176
- Sino Biological Human cDNA Clone for VPS52
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for VPS52 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (12.7) and Bone (9.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for VPS52 Gene
SOURCE GeneReport for Unigene cluster for VPS52 Gene Hs.480356
- Elite partner
Primer Products
-
OriGene qPCR primer pairs and template standards for VPS52
-
OriGene qPCR primer pairs for VPS52
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 VPS52 Gene
Orthologs for VPS52 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | VPS52 35 |
|
||
| VPS52 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | VPS52 35 |
|
||
| VPS52 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Vps52 35 |
|
||
| Vps52 16 |
|
||||
| Vps52 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | VPS52 35 |
|
||
| VPS52 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Vps52 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 36 |
|
OneToMany | |
| -- 36 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | VPS52 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | vps52 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11507 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vps52 35 |
|
||
| vps52 36 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009739 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7371 35 |
|
||
| CG7371 36 |
|
OneToOne | |||
| worm (Caenorhabditis elegans) |
Secernentea | vps-52 35 |
|
||
| vps-52 36 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS52 36 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | POK 35 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0417900 35 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7505 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6752 36 |
|
OneToOne |
- Species with no ortholog for VPS52:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for VPS52 Gene
No data available for Paralogs for VPS52 Gene
Variants for VPS52 Gene
| SNP ID | Clin | Chr 06 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1269806 | -- | 33,258,480(+) | TTTTT(A/C/G/T)Ctttt | intron-variant | |
| rs6457722 | -- | 33,257,078(+) | aggct(A/G)gagtg | intron-variant | |
| rs9501287 | -- | 33,258,247(+) | ccggg(C/T)gtggt | intron-variant | |
| rs9501288 | -- | 33,263,163(+) | ggggg(C/T)taagg | intron-variant | |
| rs9501289 | -- | 33,263,283(+) | aaaaa(A/C)aCCAA | intron-variant |
Residual Variation Intolerance Score:
19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.49% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for VPS52 Gene
Disorders for VPS52 Gene
Relevant External Links for VPS52
No disorders were found for VPS52 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VPS52 Gene
Publications for VPS52 Gene
- Characterization of the human GARP (Golgi associated retrograde protein) complex. (PMID: 15878329) Liewen H. … Stenner-Liewen F. (Exp. Cell Res. 2005) 2 3 4 67
- Identification of a novel highly conserved gene in the centromeric part of the major histocompatibility complex. (PMID: 9790748) Walter L. … Guenther E. (Genomics 1998) 2 3 23
- EARP is a multisubunit tethering complex involved in endocytic recycling. (PMID: 25799061) Schindler C. … Bonifacino J.S. (Nat. Cell Biol. 2015) 3
- Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
Products for VPS52 Gene
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- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- Browse ELISAs
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- Custom Antibody ServicesOriGene Antibodies for VPS52
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- OriGene qPCR primer pairs for VPS52
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- OriGene CRISPR knockouts for VPS52
- OriGene clones in human for VPS52
- OriGene ORF clones in human,mouse,rat for VPS52
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
- XM_011514797
- XM_011514798
- XM_011514799
- XM_011514800
- XM_011547270
- XM_011547271
- XM_011547272
- XM_011547273
- XM_011547673
- XM_011547674
- XM_011547675
- XM_011547676
- XM_011548072
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- XM_011548074
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- XM_011548456
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- NM_022553
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- Novus Biologicals Antibodies for VPS52
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- antibodies-online Antibodies for VPS52: See all 28
- Search antibodies-online for kits
- antibodies-online Proteins for VPS52: See all 7
- Search antibodies-online for peptides
- GeneTex VPS52 antibody for VPS52
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- ViGene Biosciences adenoviral particle packaged cDNA for VPS52 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for VPS52 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for VPS52
- Search Santa Cruz Biotechnology (SCBT) for VPS52 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for VPS52
Sources for VPS52 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
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