Human Gene WIPI1 (ENST00000262139.10_7) from GENCODE V47lift37
  Description: WD repeat domain, phosphoinositide interacting 1, transcript variant 4 (from RefSeq NR_135471.2)
Gencode Transcript: ENST00000262139.10_7
Gencode Gene: ENSG00000070540.13_11
Transcript (Including UTRs)
   Position: hg19 chr17:66,417,422-66,453,637 Size: 36,216 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr17:66,417,914-66,453,562 Size: 35,649 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray 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 (chr17:66,417,422-66,453,637)mRNA (may differ from genome)Protein (446 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WIPI1_HUMAN
DESCRIPTION: RecName: Full=WD repeat domain phosphoinositide-interacting protein 1; Short=WIPI-1; AltName: Full=Atg18 protein homolog; AltName: Full=WD40 repeat protein interacting with phosphoinositides of 49 kDa; Short=WIPI 49 kDa;
FUNCTION: May play a role in autophagy. May regulate the trafficking of proteins involved in the mannose-6-phosphate receptor (MPR) recycling pathway.
SUBUNIT: Probably interacts with androgen (AR) and the estrogen receptor (ER). Binds PtdIns3P and to a lesser extent, PtdIns3,5P2 and PtdIns5P in vitro. Interaction with PtdIns3P is required for recruitment to membranes.
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network. Endosome. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Trans elements of the Golgi and peripheral endosomes. Dynamically cycles through these compartments and is susceptible to conditions that modulate membrane flux. Enriched in clathrin-coated vesicles.
TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in skeletal muscle, heart, testis, pancreas and placenta. Highly expressed in G361, Sk-mel-28, Sk-mel-13, WM852 and WM451 cells. Up-regulated in a variety of tumor tissues.
SIMILARITY: Belongs to the WD repeat SVP1 family.
SIMILARITY: Contains 3 WD repeats.

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 48.57 RPKM in Cells - Cultured fibroblasts
Total median expression: 675.51 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 -44.3075-0.591 Picture PostScript Text
3' UTR -124.60492-0.253 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
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q5MNZ9
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0030331 estrogen receptor binding
GO:0032266 phosphatidylinositol-3-phosphate binding
GO:0050681 androgen receptor binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0000422 mitophagy
GO:0006497 protein lipidation
GO:0006914 autophagy
GO:0016236 macroautophagy
GO:0034497 protein localization to pre-autophagosomal structure
GO:0036498 IRE1-mediated unfolded protein response
GO:0044804 nucleophagy
GO:0048203 vesicle targeting, trans-Golgi to endosome

Cellular Component:
GO:0000139 Golgi membrane
GO:0000407 pre-autophagosomal structure
GO:0000421 autophagosome membrane
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0019898 extrinsic component of membrane
GO:0030136 clathrin-coated vesicle
GO:0031410 cytoplasmic vesicle
GO:0034045 pre-autophagosomal structure membrane


-  Descriptions from all associated GenBank mRNAs
  BC039867 - Homo sapiens WD repeat domain, phosphoinositide interacting 1, mRNA (cDNA clone MGC:49021 IMAGE:6055425), complete cds.
AK000917 - Homo sapiens cDNA FLJ10055 fis, clone HEMBA1001326.
AK301830 - Homo sapiens cDNA FLJ57645 complete cds, highly similar to WD repeat domain phosphoinositide-interacting protein 1.
AY691424 - Homo sapiens WIPI-1 alpha mRNA, complete cds.
JF432423 - Synthetic construct Homo sapiens clone IMAGE:100073629 WD repeat domain, phosphoinositide interacting 1 (WIPI1) gene, encodes complete protein.
KJ899070 - Synthetic construct Homo sapiens clone ccsbBroadEn_08464 WIPI1 gene, encodes complete protein.
CU691786 - Synthetic construct Homo sapiens gateway clone IMAGE:100021162 5' read WIPI1 mRNA.
JD566971 - Sequence 547995 from Patent EP1572962.
JD478351 - Sequence 459375 from Patent EP1572962.

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

Protein Q5MNZ9 (Reactome details) participates in the following event(s):

R-HSA-5676229 WIPIs bind PI3P
R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-1632852 Macroautophagy
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000262139.1, ENST00000262139.2, ENST00000262139.3, ENST00000262139.4, ENST00000262139.5, ENST00000262139.6, ENST00000262139.7, ENST00000262139.8, ENST00000262139.9, NR_135471, Q5MNZ9, Q8IXM5, Q9NWF8, uc317gxg.1, uc317gxg.2, WIPI1_HUMAN, WIPI49
UCSC ID: ENST00000262139.10_7
RefSeq Accession: NM_017983.7
Protein: Q5MNZ9 (aka WIPI1_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.