Human Gene VPS11 (uc010ryx.2)
  Description: Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.
RefSeq Summary (NM_021729): Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].
Transcript (Including UTRs)
   Position: hg19 chr11:118,938,493-118,952,688 Size: 14,196 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr11:118,938,535-118,952,333 Size: 13,799 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:118,938,493-118,952,688)mRNA (may differ from genome)Protein (941 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VPS11_HUMAN
DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 11 homolog; Short=hVPS11; AltName: Full=RING finger protein 108;
FUNCTION: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes.
SUBUNIT: Part of large heterooligomeric complex together with VPS16, VPS18 and VPS33A. Interacts with STX7. Interacts with ECM29.
INTERACTION: P35226:BMI1; NbExp=2; IntAct=EBI-373380, EBI-2341576;
SUBCELLULAR LOCATION: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle.
TISSUE SPECIFICITY: Ubiquitous. Expression was highest in heart and low in lung.
SIMILARITY: Belongs to the VPS11 family.
SIMILARITY: Contains 1 clathrin repeat.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=AAG23761.1; Type=Frameshift; Positions=439, 924; Sequence=BAB15320.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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): VPS11
CDC HuGE Published Literature: VPS11

-  MalaCards Disease Associations
  MalaCards Gene Search: VPS11
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 12* (1579), brain small vessel disease with or without ocular anomalies* (283), seizure disorder (3)
* = Manually curated disease association

-  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: 24.42 RPKM in Pituitary
Total median expression: 823.46 RPKM



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

+  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 -12.9042-0.307 Picture PostScript Text
3' UTR -115.01355-0.324 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
IPR000547 - Clathrin_H-chain/VPS_repeat
IPR011990 - TPR-like_helical
IPR016528 - VPS11
IPR024763 - VPS11_C
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00637 - Region in Clathrin and VPS
PF12451 - Vacuolar protein sorting protein 11 C terminal
PF13639 - Ring finger domain
PF13923 - Zinc finger, C3HC4 type (RING finger)

SCOP Domains:
48371 - ARM repeat
50978 - WD40 repeat-like
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9H270
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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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
   Gene DetailsGene DetailsGene Details
   Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0019905 syntaxin binding
GO:0030674 protein binding, bridging
GO:0046872 metal ion binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006904 vesicle docking involved in exocytosis
GO:0006914 autophagy
GO:0007032 endosome organization
GO:0007040 lysosome organization
GO:0008333 endosome to lysosome transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0031647 regulation of protein stability
GO:0034058 endosomal vesicle fusion
GO:0035542 regulation of SNARE complex assembly
GO:1902115 regulation of organelle assembly
GO:1903364 positive regulation of cellular protein catabolic process
GO:1903955 positive regulation of protein targeting to mitochondrion
GO:2000643 positive regulation of early endosome to late endosome transport

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005776 autophagosome
GO:0016020 membrane
GO:0030136 clathrin-coated vesicle
GO:0030139 endocytic vesicle
GO:0030897 HOPS complex
GO:0031410 cytoplasmic vesicle
GO:0031902 late endosome membrane


-  Descriptions from all associated GenBank mRNAs
  AK023279 - Homo sapiens cDNA FLJ13217 fis, clone NT2RP4001656, weakly similar to VACUOLAR BIOGENESIS PROTEIN END1.
LF384542 - JP 2014500723-A/192045: Polycomb-Associated Non-Coding RNAs.
AB027508 - Homo sapiens mRNA for hVPS11, complete cds.
AK056701 - Homo sapiens cDNA FLJ32139 fis, clone PLACE5000037, highly similar to Vacuolar protein sorting 11.
AK223158 - Homo sapiens mRNA for vacuolar protein sorting 11 (yeast homolog) variant, clone: LNG11645.
AL834218 - Homo sapiens mRNA; cDNA DKFZp564P2364 (from clone DKFZp564P2364).
BC065563 - Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae), mRNA (cDNA clone MGC:74765 IMAGE:6144541), complete cds.
AK302973 - Homo sapiens cDNA FLJ54956 complete cds, highly similar to Vacuolar protein sorting 11.
AF308800 - Homo sapiens vacuolar protein sorting protein 11 (VPS11) mRNA, complete cds.
AB527816 - Synthetic construct DNA, clone: pF1KB8507, Homo sapiens VPS11 gene for vacuolar protein sorting 11 homolog, without stop codon, in Flexi system.
AF258558 - Homo sapiens PP3476 mRNA, complete cds.
BC012051 - Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4640302), partial cds.
AK026012 - Homo sapiens cDNA: FLJ22359 fis, clone HRC06443.
CU680178 - Synthetic construct Homo sapiens gateway clone IMAGE:100018972 5' read VPS11 mRNA.
KJ902886 - Synthetic construct Homo sapiens clone ccsbBroadEn_12280 VPS11 gene, encodes complete protein.
JD249484 - Sequence 230508 from Patent EP1572962.
JD483102 - Sequence 464126 from Patent EP1572962.
JD168728 - Sequence 149752 from Patent EP1572962.
JD039884 - Sequence 20908 from Patent EP1572962.
JD097040 - Sequence 78064 from Patent EP1572962.
JD211779 - Sequence 192803 from Patent EP1572962.
JD420051 - Sequence 401075 from Patent EP1572962.
JD389159 - Sequence 370183 from Patent EP1572962.
JD079186 - Sequence 60210 from Patent EP1572962.
JD515931 - Sequence 496955 from Patent EP1572962.
JD539601 - Sequence 520625 from Patent EP1572962.
JD273836 - Sequence 254860 from Patent EP1572962.
JD380549 - Sequence 361573 from Patent EP1572962.
JD431822 - Sequence 412846 from Patent EP1572962.
MA620119 - JP 2018138019-A/192045: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_021729, NP_068375, PP3476, Q8WY89, Q96EP8, Q9H270, Q9H6D9, Q9HCS6, RNF108, VPS11_HUMAN
UCSC ID: uc010ryx.2
RefSeq Accession: NM_021729
Protein: Q9H270 (aka VPS11_HUMAN or VP11_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_021729.4
exon count: 16CDS single in 3' UTR: no RNA size: 3279
ORF size: 2848CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4458.50frame shift in genome: yes % Coverage: 98.11
has start codon: yes stop codon in genome: no # of Alignments: 1
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.