Human Gene WDR45 (ENST00000356463.7) from GENCODE V44
  Description: Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA. (from RefSeq NM_007075)
RefSeq Summary (NM_007075): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000356463.7
Gencode Gene: ENSG00000196998.19
Transcript (Including UTRs)
   Position: hg38 chrX:49,074,640-49,101,121 Size: 26,482 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chrX:49,074,803-49,078,095 Size: 3,293 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:49,074,640-49,101,121)mRNA (may differ from genome)Protein (361 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
myGene2neXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WIPI4_HUMAN
DESCRIPTION: RecName: Full=WD repeat domain phosphoinositide-interacting protein 4; Short=WIPI-4; AltName: Full=WD repeat-containing protein 45;
TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: WDR45
Diseases sorted by gene-association score: neurodegeneration with brain iron accumulation 5* (1389), visual epilepsy* (100), seizure disorder* (100), neurodegeneration with brain iron accumulation (22), neurodegeneration with brain iron accumulation 4 (18), spastic paraplegia 49, autosomal recessive (7), alcohol-related neurodevelopmental disorder (6), west syndrome (4)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.33 RPKM in Prostate
Total median expression: 713.76 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 -157.50439-0.359 Picture PostScript Text
3' UTR -64.40163-0.395 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

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q9Y484
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0006914 autophagy
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
  AK294088 - Homo sapiens cDNA FLJ57916 complete cds, highly similar to WD repeat domain phosphoinositide-interacting protein 4.
LF385297 - JP 2014500723-A/192800: Polycomb-Associated Non-Coding RNAs.
MA620874 - JP 2018138019-A/192800: Polycomb-Associated Non-Coding RNAs.
BC035979 - Homo sapiens WD repeat domain 45, mRNA (cDNA clone IMAGE:4657761), with apparent retained intron.
AJ005897 - Homo sapiens mRNA for JM5 protein, complete CDS (clone IMAGE 53337, LLNLc110F1857Q7 (RZPD Berlin) and LLNLc110G0913Q7 (RZPD Berlin)).
AK023344 - Homo sapiens cDNA FLJ13282 fis, clone OVARC1001092, highly similar to Homo sapiens mRNA for JM5 protein.
BC000464 - Homo sapiens WD repeat domain 45, mRNA (cDNA clone MGC:8542 IMAGE:2822742), complete cds.
BC003037 - Homo sapiens WD repeat domain 45, mRNA (cDNA clone MGC:4360 IMAGE:2822742), complete cds.
JD313009 - Sequence 294033 from Patent EP1572962.
BC009027 - Homo sapiens WD repeat domain 45, mRNA (cDNA clone IMAGE:4156276), partial cds.
AK225122 - Homo sapiens mRNA for WD repeat domain 45 isoform 2 variant, clone: CBL02426.
BC069206 - Homo sapiens WD repeat domain 45, mRNA (cDNA clone MGC:78551 IMAGE:5801768), complete cds.
JD144227 - Sequence 125251 from Patent EP1572962.
JD485734 - Sequence 466758 from Patent EP1572962.
DQ895446 - Synthetic construct Homo sapiens clone IMAGE:100009906; FLH184465.01L; RZPDo839G04143D WD repeat domain 45 (WDR45) gene, encodes complete protein.
AY691428 - Homo sapiens WIPI-4 mRNA, complete cds.
CR456725 - Homo sapiens full open reading frame cDNA clone RZPDo834A0211D for gene JM5, JM5 protein; complete cds, incl. stopcodon.
AK315717 - Homo sapiens cDNA, FLJ96819.
KJ893237 - Synthetic construct Homo sapiens clone ccsbBroadEn_02631 WDR45 gene, encodes complete protein.
DQ892245 - Synthetic construct clone IMAGE:100004875; FLH184469.01X; RZPDo839G04144D WD repeat domain 45 (WDR45) gene, encodes complete protein.
AB587560 - Synthetic construct DNA, clone: pF1KE1095, Homo sapiens WDR45 gene for WD repeat domain 45, without stop codon, in Flexi system.
JD507794 - Sequence 488818 from Patent EP1572962.
CU686714 - Synthetic construct Homo sapiens gateway clone IMAGE:100023146 5' read WDR45 mRNA.
CU674230 - Synthetic construct Homo sapiens gateway clone IMAGE:100017101 5' read WDR45 mRNA.
LF379046 - JP 2014500723-A/186549: Polycomb-Associated Non-Coding RNAs.
MA614623 - JP 2018138019-A/186549: Polycomb-Associated Non-Coding RNAs.
AK301084 - Homo sapiens cDNA FLJ57611 complete cds, moderately similar to WD repeat domain phosphoinositide-interacting protein 4.
JD300814 - Sequence 281838 from Patent EP1572962.
JD405409 - Sequence 386433 from Patent EP1572962.
JD461402 - Sequence 442426 from Patent EP1572962.
JD537921 - Sequence 518945 from Patent EP1572962.
JD558992 - Sequence 540016 from Patent EP1572962.
JD092351 - Sequence 73375 from Patent EP1572962.
JD448323 - Sequence 429347 from Patent EP1572962.
JD332339 - Sequence 313363 from Patent EP1572962.
JD175906 - Sequence 156930 from Patent EP1572962.
JD138298 - Sequence 119322 from Patent EP1572962.
JD472489 - Sequence 453513 from Patent EP1572962.
JD421544 - Sequence 402568 from Patent EP1572962.

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

Protein Q9Y484 (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: A6NGH5, B7WPI2, ENST00000356463.1, ENST00000356463.2, ENST00000356463.3, ENST00000356463.4, ENST00000356463.5, ENST00000356463.6, JM5, NM_007075, Q5MNZ5, Q6IBS7, Q6NT94, Q96H03, Q9Y484, uc004dmp.1, uc004dmp.2, WDRX1, WDRXI4, WIPI4, WIPI4_HUMAN
UCSC ID: ENST00000356463.7
RefSeq Accession: NM_007075
Protein: Q9Y484 (aka WIPI4_HUMAN)
CCDS: CCDS14318.1, CCDS35250.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR45:
nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview)
bpan (Beta-Propeller Protein-Associated Neurodegeneration)
dystonia-ov (Hereditary Dystonia Overview)

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