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WDR45 Gene

protein-coding   GIFtS: 50
GCID: GC0XM048929

WD Repeat Domain 45

(Previous names: WD repeat domain, X-linked 1)
(Previous symbol: WDRX1)
  See WDR45-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WD Repeat Domain 451 2     NBIA52 5
WDRX11 2 3     NBIA42
WIPI42 3 5     Neurodegeneration With Brain Iron Accumulation 42
WD Repeat Domain, X-Linked 11 2     WD Repeat Domain Phosphoinositide-Interacting Protein 42
Neurodegeneration With Brain Iron Accumulation 51 2     WD45 Repeat Protein Interacting With Phosphoinositides 42
WIPI-42 3     WDRXI43
WD Repeat-Containing Protein 452 3     

External Ids:    HGNC: 289121   Entrez Gene: 111522   Ensembl: ENSG000001969987   OMIM: 3005265   UniProtKB: Q9Y4843   

Export aliases for WDR45 gene to outside databases

Previous GC identifers: GC0XM048688 GC0XM048819 GC0XM046588


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WDR45 Gene:
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)

GeneCards Summary for WDR45 Gene:
WDR45 (WD repeat domain 45) is a protein-coding gene. Diseases associated with WDR45 include neurodegeneration with brain iron accululation 5, and alcohol-related neurodevelopmental disorder. GO annotations related to this gene include phosphatidylinositol-3,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ENSG00000250232.

UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484
Function: Plays an important role in the autophagy pathway, which is the major intracellular degradation system by
which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation

Gene Wiki entry for WDR45 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the WDR45 gene promoter:
         E2F-4   E2F-3a   STAT1   E2F-5   E2F-2   Tal-1beta   STAT1alpha   E47   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): WDR45 promoter sequence
   Search Chromatin IP Primers for WDR45

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR45


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

WDR45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR45 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM048929:  view genomic region     (about GC identifiers)

Start:
48,929,385 bp from pter      End:
48,958,108 bp from pter
Size:
28,724 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484 (See protein sequence)
Recommended Name: WD repeat domain phosphoinositide-interacting protein 4  
Size: 360 amino acids; 39868 Da
Secondary accessions: A6NGH5 B7WPI2 Q5MNZ5 Q6IBS7 Q6NT94 Q96H03
Alternative splicing: 3 isoforms:  Q9Y484-1   Q9Y484-2   Q9Y484-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WDR45: NX_Q9Y484

Explore proteomics data for WDR45 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WDR45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001025067.1  NP_009006.2  

    ENSEMBL proteins: 
     ENSP00000365551   ENSP00000419453   ENSP00000365543   ENSP00000348848   ENSP00000419897  
     ENSP00000356345   ENSP00000417211   ENSP00000365546   ENSP00000379913   ENSP00000417754  
     ENSP00000418466   ENSP00000418919   ENSP00000420728   ENSP00000393640   ENSP00000419324  
     ENSP00000420534   ENSP00000397657   ENSP00000451962  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y484

    ProtoNet protein and cluster: Q9Y484

    UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484
    Similarity: Belongs to the WD repeat SVP1 family
    Similarity: Contains 3 WD repeats


    Find genes that share domains with WDR45           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WIPI4_HUMAN, Q9Y484
    Function: Plays an important role in the autophagy pathway, which is the major intracellular degradation system by
    which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083small GTPase regulator activity ----
    GO:0005515protein binding ----
    GO:0032266phosphatidylinositol-3-phosphate binding IBA--
    GO:0080025phosphatidylinositol-3,5-bisphosphate binding IBA--
         
    Find genes that share ontologies with WDR45           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WDR45
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    miRTarBase miRNAs that target WDR45:
    hsa-mir-7-5p (MIRT025809)

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    Selected qRT-PCR Assays for microRNAs that regulate WDR45 (see all 15):
    hsa-miR-520e hsa-miR-302d hsa-miR-302a hsa-miR-302e hsa-miR-664 hsa-miR-373 hsa-miR-520a-3p hsa-miR-520c-3p
    SwitchGear 3'UTR luciferase reporter plasmidWDR45 3' UTR sequence
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    Addgene plasmids for WDR45 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--

    Find genes that share ontologies with WDR45           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR45
    Interactions:

        Search GeneGlobe Interaction Network for WDR45

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for WDR45 (Q9Y4843 ENSP000003488484) via UniProtKB, MINT, STRING, and/or I2D (see all 343)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
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    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IBA--
    GO:0006914autophagy IMP--
    GO:0008219cell death IEA--

    Find genes that share ontologies with WDR45           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WDR45 (WIPI4)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WDR45 gene (2 alternative transcripts): 
    NM_001029896.1  NM_007075.3  

    Unigene Cluster for WDR45:

    WD repeat domain 45
    Hs.632807  [show with all ESTs]
    Unigene Representative Sequence: BC035979
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000465806(uc004dmj.1 uc004dmn.1 uc004dmp.1) ENST00000376372(uc004dmk.1 uc004dml.1)
    ENST00000486337 ENST00000322995 ENST00000356463 ENST00000485908 ENST00000367375
    ENST00000433252 ENST00000473974 ENST00000376368 ENST00000396681 ENST00000475977
    ENST00000480412 ENST00000471338 ENST00000472654 ENST00000475880 ENST00000474053
    ENST00000419567
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WDR45 (see all 15):
    hsa-miR-520e hsa-miR-302d hsa-miR-302a hsa-miR-302e hsa-miR-664 hsa-miR-373 hsa-miR-520a-3p hsa-miR-520c-3p
    SwitchGear 3'UTR luciferase reporter plasmidWDR45 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR45
    Addgene plasmids for WDR45 
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    OriGene qPCR primer pairs and template standards for WDR45
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WDR45
      QuantiTect SYBR Green Assays in human, mouse, rat WDR45
      QuantiFast Probe-based Assays in human, mouse, rat WDR45

    Additional mRNA sequence: 

    AJ005897.1 AK023344.1 AK225122.1 AK301084.1 AK315717.1 AY691428.1 BC000464.2 BC003037.1 
    BC009027.1 BC035979.1 BC069206.1 CR456725.1 

    19 DOTS entries:

    DT.455388  DT.92435693  DT.40249386  DT.97816224  DT.95358721  DT.100817695  DT.92020572  DT.121290070 
    DT.97859431  DT.121290043  DT.95077499  DT.121290027  DT.100817693  DT.121262060  DT.121290014  DT.121290029 
    DT.95123900  DT.91877747  DT.92036934 

    Selected AceView cDNA sequences (see all 273):

    CA306278 BM699375 BG749127 CB131189 AI651104 BM705389 BQ068083 BM456088 
    BM791632 AI521747 N63504 CR590613 BM013712 CB160787 BC000464 CB127042 
    AI580726 BQ932328 BF929146 AI268080 BI837983 BF985223 BI819673 CR594026 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WDR45 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
    SP1:                                                                          -     -     -     -     -     -                 -     -                           
    SP2:                                                                          -     -     -     -     -     -                 -     -                           
    SP3:                                                                    -     -     -     -     -     -     -                 -     -                           
    SP4:                                                                                                                          -     -                           
    SP5:                                                                                                                          -                                 

    ExUns: 14b ^ 15a · 15b · 15c ^ 16
    SP1:  -                           
    SP2:                              
    SP3:  -                           
    SP4:  -                           
    SP5:  -                           


    ECgene alternative splicing isoforms for WDR45

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WDR45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAGATCGT
    WDR45 Expression
    About this image

    WDR45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR45 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632807

    UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR45

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for WDR45 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr451 , 5 WD repeat domain 451, 5 90.83(n)1
    97.78(a)1
      X (3.48 cM)5
    546361  NM_172372.11  NP_758960.11 
     77219735 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    93(a)
    1 → many
    GL343326.1(797788-806047)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75592 Xenopus laevis transcribed sequence with moderate similarity more 75.57(n)    AW638147.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563452 similar to JM5 protein 77.94(n)   393200  BC046090.1 
    worm
    (Caenorhabditis elegans)
    Secernentea epg-61 epg-6 43.05(n)
    34.36(a)
      189705  NM_066934.4  NP_499335.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HSV2(YGR223C)4 Phosphatidylinositol 3,5-bisphosphate-binding protein, more   --   7(942215-940869) 853138  NP_011739.1 


    ENSEMBL Gene Tree for WDR45 (if available)
    TreeFam Gene Tree for WDR45 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WDR45 gene
    ENSG000002502322  WDR45B2  
    5 SIMAP similar genes for WDR45 using alignment to 16 protein entries:     WIPI4_HUMAN (see all proteins):
    PRAF2    ARL6IP5    WIPI1    WDR45L    WDR45B

    Find genes that share paralogs with WDR45           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for WDR45
    PGOHUM00000246104


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WDR45 (see all 368)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1903968911,2
    --48851374(+) GGGGCA/GGCGAT 2 -- ds50010--------
    rs2005864681,2
    --48852147(+) TCTACA/GCAGAT 4 C syn10--------
    rs2016182131,2
    --48852168(+) GGGGGC/GGTGGT 2 -- int10--------
    rs1828749601,2
    --48852269(+) TCCCCC/TTTACT 2 -- int10--------
    rs2010661401,2
    --48852346(+) ATGCAC/GTACCC 2 -- int10--------
    rs2000186391,2
    --48852352(+) TACCCC/TCAACC 2 -- int10--------
    rs1876014521,2
    C--48852389(+) CAGAGC/TTGACG 4 N S mis10--------
    rs1495095521,2
    C--48852513(+) GCCCAC/TGCGAG 4 M V mis11Minor allele frequency- T:0.00NA 4220
    rs1838126881,2
    C--48852580(+) GGACAC/TGGTAG 2 -- int10--------
    rs1891765511,2
    C--48852734(+) ATGCCC/TACATG 2 -- int10--------

    HapMap Linkage Disequilibrium report for WDR45 (48929385 - 48958108 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for WDR45:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv28729CNV Loss19812545
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): WDR45
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WDR45
    DNA2.0 Custom Variant and Variant Library Synthesis for WDR45

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300526   
    OMIM disorders: 300894  
    UniProtKB/Swiss-Prot: WIPI4_HUMAN, Q9Y484
  • Neurodegeneration with brain iron accumulation 5 (NBIA5) [MIM:300894]: A neurodegenerative disorder
    associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global
    developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until
    adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia,
    parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for WDR45:    
    About MalaCards
    neurodegeneration with brain iron accululation 5    alcohol-related neurodevelopmental disorder    beta-propeller protein-associated neurodegeneration    neurodegeneration with brain iron accumulation disorders

    1 disease from the University of Copenhagen DISEASES database for WDR45:
    alcohol-related neurodevelopmental disorder

    Find genes that share disorders with WDR45           About GenesLikeMe


    Export disorders for WDR45 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for WDR45 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with WDR45)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. (PubMed id 23435086)1, 2 Saitsu H....Matsumoto N. (Nat. Genet. 2013)
    2. WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy. (PubMed id 15602573)1, 2 Proikas-Cezanne T....Nordheim A. (Oncogene 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. I^-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. (PubMed id 23687123)1 Hayflick S.J....Hogarth P. (Brain 2013)
    7. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. (PubMed id 23176820)1 Haack T.B....Hayflick S.J. (Am. J. Hum. Genet. 2012)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 11152 HGNC: 28912 AceView: WDR45 Ensembl:ENSG00000196998 euGenes: HUgn11152
    ECgene: WDR45 H-InvDB: WDR45

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for WDR45 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for WDR45 gene:
    Search GeneIP for patents involving WDR45

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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