Human Gene VPS52 (uc011fqm.2)
  Description: Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.
RefSeq Summary (NM_022553): 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].
Transcript (Including UTRs)
   Position: hg19 chr6_cox_hap2:4,661,875-4,683,549 Size: 21,675 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr6_cox_hap2:4,662,444-4,680,773 Size: 18,330 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6_cox_hap2:4,661,875-4,683,549)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VPS52_HUMAN
DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 52 homolog; AltName: Full=SAC2 suppressor of actin mutations 2-like protein;
FUNCTION: May be involved in retrograde transport of early and late endosomes to the late Golgi. 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.
SUBUNIT: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. Interacts with RAB6A and STX10.
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein.
SIMILARITY: Belongs to the VPS52 family.
SEQUENCE CAUTION: Sequence=CAI95619.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): VPS52
CDC HuGE Published Literature: VPS52
Positive Disease Associations: Cholesterol
Related Studies:
  1. Cholesterol
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -107.80343-0.314 Picture PostScript Text
3' UTR -143.20569-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007258 - Vps52

Pfam Domains:
PF04129 - Vps52 / Sac2 family

ModBase Predicted Comparative 3D Structure on Q8N1B4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0019905 syntaxin binding

Biological Process:
GO:0006896 Golgi to vacuole transport
GO:0007041 lysosomal transport
GO:0010668 ectodermal cell differentiation
GO:0015031 protein transport
GO:0032456 endocytic recycling
GO:0042147 retrograde transport, endosome to Golgi
GO:0048611 embryonic ectodermal digestive tract development

Cellular Component:
GO:0000938 GARP complex
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0032588 trans-Golgi network membrane
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:1990745 EARP complex


-  Descriptions from all associated GenBank mRNAs
  AK222867 - Homo sapiens mRNA for suppressor of actin mutations 2-like isoform a variant, clone: HEP15548.
BC032108 - Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae), mRNA (cDNA clone MGC:23328 IMAGE:4644275), complete cds.
BC040114 - Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae), mRNA (cDNA clone MGC:48686 IMAGE:5755265), complete cds.
AK093057 - Homo sapiens cDNA FLJ35738 fis, clone TESTI2003692, highly similar to Rattus norvegicus mRNA for ARE1 protein.
AK001725 - Homo sapiens cDNA FLJ10863 fis, clone NT2RP4001575, highly similar to Vacuolar protein sorting protein 52.
AL390171 - Homo sapiens mRNA; cDNA DKFZp547I194 (from clone DKFZp547I194).
AX775737 - Sequence 7 from Patent WO03048202.
JD390645 - Sequence 371669 from Patent EP1572962.
BC013012 - Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3605512), **** WARNING: chimeric clone ****.
JD566807 - Sequence 547831 from Patent EP1572962.
JD291127 - Sequence 272151 from Patent EP1572962.
JD221489 - Sequence 202513 from Patent EP1572962.
JD220086 - Sequence 201110 from Patent EP1572962.
JD218811 - Sequence 199835 from Patent EP1572962.
JD465985 - Sequence 447009 from Patent EP1572962.
JD454888 - Sequence 435912 from Patent EP1572962.
AK299563 - Homo sapiens cDNA FLJ55499 complete cds, highly similar to Vacuolar protein sorting protein 52.
JD501814 - Sequence 482838 from Patent EP1572962.
JD528811 - Sequence 509835 from Patent EP1572962.
JD290021 - Sequence 271045 from Patent EP1572962.
AK297935 - Homo sapiens cDNA FLJ54452 complete cds, highly similar to Vacuolar protein sorting protein 52.
AJ006026 - Homo sapiens mRNA for ARE1-like protein.
JD554294 - Sequence 535318 from Patent EP1572962.
JD391240 - Sequence 372264 from Patent EP1572962.
JD365615 - Sequence 346639 from Patent EP1572962.
JD149911 - Sequence 130935 from Patent EP1572962.
JD020325 - Sequence 1349 from Patent EP1572962.
JD021665 - Sequence 2689 from Patent EP1572962.
JD031297 - Sequence 12321 from Patent EP1572962.
AK304080 - Homo sapiens cDNA FLJ58349 complete cds, highly similar to Vacuolar protein sorting protein 52.
AK300430 - Homo sapiens cDNA FLJ60156 complete cds, highly similar to Vacuolar protein sorting protein 52.
AK300308 - Homo sapiens cDNA FLJ58858 complete cds, highly similar to Vacuolar protein sorting protein 52.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N1B4 (Reactome details) participates in the following event(s):

R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles
R-HSA-6814674 Tethering of late endosome-derived vesicles by GARP, STX10:ST16:VTI1A and Golgins
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A2BF38, AK001725, B0UZZ4, NM_022553, NP_072047, Q53GR4, Q5JPA0, Q5SQW1, Q8IUN6, Q8N1B4, Q9NPT5, SACM2L, VPS52_HUMAN
UCSC ID: uc011fqm.2
RefSeq Accession: NM_022553
Protein: Q8N1B4 (aka VPS52_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK001725.1
exon count: 18CDS single in 3' UTR: no RNA size: 2510
ORF size: 1605CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 3242.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.