Human Gene WDR45B (ENST00000392325.9_7) from GENCODE V47lift37
  Description: WD repeat domain 45B (from RefSeq NM_019613.4)
Gencode Transcript: ENST00000392325.9_7
Gencode Gene: ENSG00000141580.16_12
Transcript (Including UTRs)
   Position: hg19 chr17:80,572,438-80,606,320 Size: 33,883 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr17:80,573,795-80,606,216 Size: 32,422 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:80,572,438-80,606,320)mRNA (may differ from genome)Protein (344 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WIPI3_HUMAN
DESCRIPTION: RecName: Full=WD repeat domain phosphoinositide-interacting protein 3; Short=WIPI-3; AltName: Full=WD repeat-containing protein 45-like; Short=WDR45-like protein; AltName: Full=WIPI49-like protein;
TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in heart, skeletal muscle and pancreas. Up-regulated in a variety of tumor tissues including ovarian and uterine cancers.
SIMILARITY: Belongs to the WD repeat SVP1 family.
SIMILARITY: Contains 2 WD repeats.
SEQUENCE CAUTION: Sequence=AAC72952.1; Type=Erroneous initiation;

-  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: WDR45B
Diseases sorted by gene-association score: spastic cerebral palsy (6)

-  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: 49.39 RPKM in Testis
Total median expression: 1564.19 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 -47.40104-0.456 Picture PostScript Text
3' UTR -448.001357-0.330 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 Q5MNZ6
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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 orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0032266 phosphatidylinositol-3-phosphate binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0000422 mitophagy
GO:0006497 protein lipidation
GO:0034497 protein localization to pre-autophagosomal structure
GO:0044804 nucleophagy

Cellular Component:
GO:0005829 cytosol
GO:0019898 extrinsic component of membrane
GO:0034045 pre-autophagosomal structure membrane


-  Descriptions from all associated GenBank mRNAs
  LF384832 - JP 2014500723-A/192335: Polycomb-Associated Non-Coding RNAs.
AF091083 - Homo sapiens clone 628 unknown mRNA, complete sequence.
BC000974 - Homo sapiens WDR45-like, mRNA (cDNA clone IMAGE:3450672).
BC007838 - Homo sapiens WDR45-like, mRNA (cDNA clone IMAGE:4120385).
JD268202 - Sequence 249226 from Patent EP1572962.
LF328650 - JP 2014500723-A/136153: Polycomb-Associated Non-Coding RNAs.
DL491993 - Novel nucleic acids.
DL490545 - Novel nucleic acids.
JD554932 - Sequence 535956 from Patent EP1572962.
JD042018 - Sequence 23042 from Patent EP1572962.
JD278615 - Sequence 259639 from Patent EP1572962.
JD449329 - Sequence 430353 from Patent EP1572962.
JD063285 - Sequence 44309 from Patent EP1572962.
JD549056 - Sequence 530080 from Patent EP1572962.
AK297477 - Homo sapiens cDNA FLJ60701 complete cds, highly similar to WD repeat domain phosphoinositide-interacting protein 3.
JD377609 - Sequence 358633 from Patent EP1572962.
JD336874 - Sequence 317898 from Patent EP1572962.
JD218199 - Sequence 199223 from Patent EP1572962.
JD215423 - Sequence 196447 from Patent EP1572962.
JD483899 - Sequence 464923 from Patent EP1572962.
JD278706 - Sequence 259730 from Patent EP1572962.
JD057554 - Sequence 38578 from Patent EP1572962.
JD215422 - Sequence 196446 from Patent EP1572962.
JD086378 - Sequence 67402 from Patent EP1572962.
JD376117 - Sequence 357141 from Patent EP1572962.
JD266981 - Sequence 248005 from Patent EP1572962.
AM182326 - Homo sapiens mRNA for WDR45-like protein (WDR45L gene), from testis.
JD190791 - Sequence 171815 from Patent EP1572962.
JD480569 - Sequence 461593 from Patent EP1572962.
JD116321 - Sequence 97345 from Patent EP1572962.
JD098167 - Sequence 79191 from Patent EP1572962.
JD405062 - Sequence 386086 from Patent EP1572962.
AY691427 - Homo sapiens WIPI-3 mRNA, complete cds.
KX434429 - Homo sapiens WIPI3 long variant (WIPI3) mRNA, complete cds.
KJ904824 - Synthetic construct Homo sapiens clone ccsbBroadEn_14218 WDR45L gene, encodes complete protein.
EU446824 - Synthetic construct Homo sapiens clone IMAGE:100070233; IMAGE:100012033; FLH258741.01L WDR45-like (WDR45L) gene, encodes complete protein.
AB464355 - Synthetic construct DNA, clone: pF1KB7266, Homo sapiens WDR45L gene for WDR45-like protein, without stop codon, in Flexi system.
CR456770 - Homo sapiens full open reading frame cDNA clone RZPDo834E014D for gene LOC56270, hypothetical protein 628; complete cds, incl. stopcodon.
CU675825 - Synthetic construct Homo sapiens gateway clone IMAGE:100016970 5' read WDR45L mRNA.
LF328651 - JP 2014500723-A/136154: Polycomb-Associated Non-Coding RNAs.
LF328652 - JP 2014500723-A/136155: Polycomb-Associated Non-Coding RNAs.
LF328653 - JP 2014500723-A/136156: Polycomb-Associated Non-Coding RNAs.
LF328655 - JP 2014500723-A/136158: Polycomb-Associated Non-Coding RNAs.
JD289625 - Sequence 270649 from Patent EP1572962.
JD336756 - Sequence 317780 from Patent EP1572962.
JD462041 - Sequence 443065 from Patent EP1572962.
MA620409 - JP 2018138019-A/192335: Polycomb-Associated Non-Coding RNAs.
MA564227 - JP 2018138019-A/136153: Polycomb-Associated Non-Coding RNAs.
MA564228 - JP 2018138019-A/136154: Polycomb-Associated Non-Coding RNAs.
MA564229 - JP 2018138019-A/136155: Polycomb-Associated Non-Coding RNAs.
MA564230 - JP 2018138019-A/136156: Polycomb-Associated Non-Coding RNAs.
MA564232 - JP 2018138019-A/136158: Polycomb-Associated Non-Coding RNAs.

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

Protein Q5MNZ6 (Reactome details) participates in the following event(s):

R-HSA-5676229 WIPIs bind PI3P
R-HSA-1632852 Macroautophagy
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024R8U4, A0A218N098, ENST00000392325.1, ENST00000392325.2, ENST00000392325.3, ENST00000392325.4, ENST00000392325.5, ENST00000392325.6, ENST00000392325.7, ENST00000392325.8, NM_019613, O95328, Q2MCP6, Q5MNZ6, Q6IBN2, uc318uzq.1, uc318uzq.2, WDR45L, WIPI3, WIPI3_HUMAN
UCSC ID: ENST00000392325.9_7
RefSeq Accession: NM_019613.4
Protein: Q5MNZ6 (aka WIPI3_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR45B:
el-hattab-alkuraya (El-Hattab-Alkuraya Syndrome)

-  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.