Human Gene VPS29 (ENST00000549578.6_8) from GENCODE V47lift37
  Description: VPS29 retromer complex component, transcript variant 8 (from RefSeq NR_104102.2)
Gencode Transcript: ENST00000549578.6_8
Gencode Gene: ENSG00000111237.19_10
Transcript (Including UTRs)
   Position: hg19 chr12:110,928,888-110,939,916 Size: 11,029 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:110,929,810-110,939,856 Size: 10,047 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:110,928,888-110,939,916)mRNA (may differ from genome)Protein (182 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VPS29_HUMAN
DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 29; Short=hVPS29; EC=3.1.3.3; AltName: Full=PEP11 homolog; AltName: Full=Vesicle protein sorting 29;
FUNCTION: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Has low protein phosphatase activity towards a serine-phosphorylated peptide derived from IGF2R (in vitro).
CATALYTIC ACTIVITY: O-phospho-L(or D)-serine + H(2)O = L(or D)- serine + phosphate.
COFACTOR: Binds 2 zinc ions per subunit (Probable).
SUBUNIT: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein (By similarity).
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, lung, placenta, spleen, peripheral blood leukocytes, thymus, colon skeletal muscle, kidney and brain.
SIMILARITY: Belongs to the VPS29 family.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: VPS29
Diseases sorted by gene-association score: spastic paraplegia 36, autosomal dominant (3)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.20 RPKM in Esophagus - Muscularis
Total median expression: 1032.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.4060-0.273 Picture PostScript Text
3' UTR -216.70922-0.235 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
IPR024654 - Calcineurin-like_PEstase_dom
IPR000979 - Phosphodiesterase_MJ0936

Pfam Domains:
PF12850 - Calcineurin-like phosphoesterase superfamily domain

SCOP Domains:
56300 - Metallo-dependent phosphatases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1W24 - X-ray MuPIT 2R17 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UBQ0
FrontTopSide
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 orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding
GO:0008565 protein transporter activity

Biological Process:
GO:0006886 intracellular protein transport
GO:0015031 protein transport
GO:0016055 Wnt signaling pathway
GO:0042147 retrograde transport, endosome to Golgi
GO:1990126 retrograde transport, endosome to plasma membrane
GO:0010506 regulation of autophagy

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005829 cytosol
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030904 retromer complex
GO:0030906 retromer, cargo-selective complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK130510 - Homo sapiens cDNA FLJ27000 fis, clone SLV04805, highly similar to Homo sapiens vacuolar protein sorting 29.
JD179223 - Sequence 160247 from Patent EP1572962.
JD294204 - Sequence 275228 from Patent EP1572962.
JD199531 - Sequence 180555 from Patent EP1572962.
JD201761 - Sequence 182785 from Patent EP1572962.
AL832866 - Homo sapiens mRNA; cDNA DKFZp667O202 (from clone DKFZp667O202).
AK000499 - Homo sapiens cDNA FLJ20492 fis, clone KAT08488.
AF168716 - Homo sapiens x 007 protein mRNA, complete cds.
JD302911 - Sequence 283935 from Patent EP1572962.
AK129767 - Homo sapiens cDNA FLJ26256 fis, clone DMC04355, highly similar to Homo sapiens vacuolar protein sorting 29.
BC000880 - Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae), mRNA (cDNA clone MGC:4870 IMAGE:3461977), complete cds.
GQ891479 - Homo sapiens clone HEL-S-200 epididymis secretory sperm binding protein mRNA, complete cds.
AF193795 - Homo sapiens vacuolar sorting protein VPS29/PEP11 mRNA, complete cds.
BC095446 - Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae), mRNA (cDNA clone MGC:111177 IMAGE:30719438), complete cds.
AL136614 - Homo sapiens mRNA; cDNA DKFZp564F0223 (from clone DKFZp564F0223).
BC015095 - Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3680908), complete cds.
JD300309 - Sequence 281333 from Patent EP1572962.
JD562854 - Sequence 543878 from Patent EP1572962.
AF201936 - Homo sapiens DC15 (DC15) mRNA, complete cds.
AF201946 - Homo sapiens DC7 protein mRNA, complete cds.
AF175264 - Homo sapiens vacuolar sorting protein 29 (VPS29) mRNA, complete cds.
AB578890 - Homo sapiens vps29 mRNA for vacuolar protein sorting 29, clone: H3_3_62_vps29.
CR533468 - Homo sapiens full open reading frame cDNA clone RZPDo834B0517D for gene VPS29, vacuolar protein sorting 29 (yeast); complete cds, incl. stopcodon.
CR457182 - Homo sapiens full open reading frame cDNA clone RZPDo834B118D for gene VPS29, vacuolar protein sorting 29 (yeast); complete cds, incl. stopcodon.
CU674440 - Synthetic construct Homo sapiens gateway clone IMAGE:100022680 5' read VPS29 mRNA.
KJ893972 - Synthetic construct Homo sapiens clone ccsbBroadEn_03366 VPS29 gene, encodes complete protein.
AB528291 - Synthetic construct DNA, clone: pF1KE0101, Homo sapiens VPS29 gene for vacuolar protein sorting 29 homolog, without stop codon, in Flexi system.
AM392835 - Synthetic construct Homo sapiens clone IMAGE:100001653 for hypothetical protein (VPS29 gene).
JD027295 - Sequence 8319 from Patent EP1572962.
AF086379 - Homo sapiens full length insert cDNA clone ZD69B11.
AB578891 - Homo sapiens vps29 mRNA for vacuolar protein sorting 29, clone: H5_1_33_vps29.
AB618733 - Homo sapiens vps29 mRNA for vacuolar protein sorting-associated protein 29, partial cds, clone: H5_1_38_vps29.
AB578892 - Homo sapiens vps29 mRNA for vacuolar protein sorting 29, clone: H5_1_36_vps29.
BC032462 - Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae), mRNA (cDNA clone MGC:40428 IMAGE:5197243), complete cds.
BC017964 - Homo sapiens, clone IMAGE:4612923, mRNA.
JD546140 - Sequence 527164 from Patent EP1572962.
JD546141 - Sequence 527165 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
SER-GLYSYN-PWY - serine and glycine biosynthesis
SERSYN-PWY - L-serine biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9UBQ0 (Reactome details) participates in the following event(s):

R-HSA-3247839 Retromer associates with WLS
R-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DC15, DC7, ENST00000549578.1, ENST00000549578.2, ENST00000549578.3, ENST00000549578.4, ENST00000549578.5, MDS007, NR_104102, Q502Y5, Q6FIF8, Q6IAH3, Q9H0W0, Q9NRP1, Q9NRU7, Q9UBQ0, uc325anu.1, uc325anu.2, VPS29 , VPS29_HUMAN
UCSC ID: ENST00000549578.6_8
RefSeq Accession: NM_016226.5
Protein: Q9UBQ0 (aka VPS29_HUMAN or VP29_HUMAN)

-  Gene Model Information
  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.