Aliases for WDR59 Gene

Aliases for WDR59 Gene

  • WD Repeat Domain 59 2 3 5
  • WD Repeat-Containing Protein 59 3 4
  • GATOR Complex Protein WDR59 3 4
  • CDw12 Antigen 3
  • FLJ12270 2
  • KIAA1923 4
  • P90-120 3
  • CDW12 3
  • FP977 3
  • WDR59 5

External Ids for WDR59 Gene

Previous GeneCards Identifiers for WDR59 Gene

  • GC16M073465
  • GC16M074908
  • GC16M060657

Summaries for WDR59 Gene

GeneCards Summary for WDR59 Gene

WDR59 (WD Repeat Domain 59) is a Protein Coding gene. Diseases associated with WDR59 include Intermittent Explosive Disorder. Among its related pathways are mTOR signaling pathway (KEGG) and PI3K / Akt Signaling. An important paralog of this gene is GEMIN5.

UniProtKB/Swiss-Prot Summary for WDR59 Gene

  • As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).

Additional gene information for WDR59 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR59 Gene

Genomics for WDR59 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WDR59 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J074997 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 606 -2.0 -1992 8.5 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 TEAD4 PRDM10 ZNF629 TFE3 ZNRF1 WDR59 ENSG00000259972 ENSG00000214331 ENSG00000260884 ENSG00000239763 TMEM231 ENSG00000261783 ZFP1 FA2H
GH16J074983 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.8 +13.3 13273 6.2 ZNF221 BRCA1 SP1 CREB1 GATAD2A ZBTB33 PRDM10 ZNF512 SIX5 LEF1 WDR59 ENSG00000214331 RFWD3 ENSG00000261783 ENSG00000239763 ENSG00000259972 ENSG00000260884 ADAT1 ENSG00000261079 NPIPB15
GH16J075241 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.2 -250.3 -250283 17.5 CEBPG HNRNPL CREB1 GATAD2A ZBTB33 TEAD4 PRDM10 TFE3 NFKBIZ ZNF692 BCAR1 ENSG00000280152 lnc-CTRB2-1 ENSG00000214331 RFWD3 ENSG00000259972 WDR59 ENSG00000261783 ADAT1 ENSG00000260884
GH16J075564 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.5 -566.2 -566157 3.3 ZNF221 CEBPG CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 TFE3 RFX1 GABARAPL2 lnc-TMEM231-3 ADAT1 RFWD3 KARS1 WDR59 TMEM231 TMEM170A ENSG00000259992
GH16J074295 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +703.3 703283 3.4 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF512 RFX1 SOX13 IKZF1 ENSG00000261404 PSMD7 ENSG00000214331 ENSG00000239763 ENSG00000259972 ENSG00000260884 RFWD3 WDR59 ENSG00000207525 NPIPB15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR59 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR59

Top Transcription factor binding sites by QIAGEN in the WDR59 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • c-Myb
  • Meis-1
  • Meis-1a
  • Meis-1b
  • STAT3

Genomic Locations for WDR59 Gene

Genomic Locations for WDR59 Gene
chr16:74,871,362-75,000,173
(GRCh38/hg38)
Size:
128,812 bases
Orientation:
Minus strand
chr16:74,907,468-75,034,071
(GRCh37/hg19)
Size:
126,604 bases
Orientation:
Minus strand

Genomic View for WDR59 Gene

Genes around WDR59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR59 Gene

Proteins for WDR59 Gene

  • Protein details for WDR59 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PJI9-WDR59_HUMAN
    Recommended name:
    GATOR complex protein WDR59
    Protein Accession:
    Q6PJI9
    Secondary Accessions:
    • B3KRC3
    • Q71RE7
    • Q96PW5
    • Q9BSW6
    • Q9HA43

    Protein attributes for WDR59 Gene

    Size:
    974 amino acids
    Molecular mass:
    109793 Da
    Quaternary structure:
    • Interacts with DDB1-CUL4A/B E3 ligase complexes (By similarity). Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. The GATOR2 complex interacts with CASTOR2 and CASTOR1; the interaction is negatively regulated by arginine (PubMed:26972053). The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed:25263562, PubMed:25457612).
    SequenceCaution:
    • Sequence=BAB67816.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR59 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR59 Gene

Post-translational modifications for WDR59 Gene

  • Ubiquitination at Lys588 and Lys864
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR59 Gene

Domains & Families for WDR59 Gene

Gene Families for WDR59 Gene

Protein Domains for WDR59 Gene

Suggested Antigen Peptide Sequences for WDR59 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54513, highly similar to Homo sapiens WD repeat domain 59 (WDR59), mRNA (B7Z7V6_HUMAN)
  • WD repeat-containing protein 59 (WDR59_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PJI9

UniProtKB/Swiss-Prot:

WDR59_HUMAN :
  • Belongs to the WD repeat WDR59 family.
Family:
  • Belongs to the WD repeat WDR59 family.
genes like me logo Genes that share domains with WDR59: view

Function for WDR59 Gene

Molecular function for WDR59 Gene

UniProtKB/Swiss-Prot Function:
As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).

Phenotypes From GWAS Catalog for WDR59 Gene

Gene Ontology (GO) - Molecular Function for WDR59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25263562
genes like me logo Genes that share ontologies with WDR59: view
genes like me logo Genes that share phenotypes with WDR59: view

Animal Models for WDR59 Gene

MGI Knock Outs for WDR59:
  • Wdr59 Wdr59<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR59

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WDR59 Gene

Localization for WDR59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR59 Gene

Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR59 gene
Compartment Confidence
lysosome 5
cytosol 3
nucleus 2
endosome 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WDR59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 28199306
GO:0016020 membrane IEA --
GO:0061700 GATOR2 complex IDA 23723238
genes like me logo Genes that share ontologies with WDR59: view

Pathways & Interactions for WDR59 Gene

PathCards logo

SuperPathways for WDR59 Gene

genes like me logo Genes that share pathways with WDR59: view

Pathways by source for WDR59 Gene

1 KEGG pathway for WDR59 Gene
1 Cell Signaling Technology pathway for WDR59 Gene

Gene Ontology (GO) - Biological Process for WDR59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032008 positive regulation of TOR signaling IMP 23723238
GO:0034198 cellular response to amino acid starvation IMP 23723238
genes like me logo Genes that share ontologies with WDR59: view

No data available for SIGNOR curated interactions for WDR59 Gene

Drugs & Compounds for WDR59 Gene

No Compound Related Data Available

Transcripts for WDR59 Gene

mRNA/cDNA for WDR59 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR59

Alternative Splicing Database (ASD) splice patterns (SP) for WDR59 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: -
SP6: - -
SP7: -
SP8:
SP9:
SP10: -
SP11: -

ExUns: 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28
SP1: - - - -
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7: - - -
SP8: -
SP9: -
SP10:
SP11:

Relevant External Links for WDR59 Gene

GeneLoc Exon Structure for
WDR59

Expression for WDR59 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR59 Gene

Protein differential expression in normal tissues from HIPED for WDR59 Gene

This gene is overexpressed in Frontal cortex (22.9), Spinal cord (13.7), and Bone marrow mesenchymal stem cell (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR59 Gene



Protein tissue co-expression partners for WDR59 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR59

SOURCE GeneReport for Unigene cluster for WDR59 Gene:

Hs.280951

Evidence on tissue expression from TISSUES for WDR59 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Lung(4.2)
  • Skin(2)
  • Eye(2)
genes like me logo Genes that share expression patterns with WDR59: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR59 Gene

Orthologs for WDR59 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WDR59 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WDR59 30 31
  • 99.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia WDR59 31
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WDR59 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia WDR59 30 31
  • 90.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WDR59 30 31
  • 89.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wdr59 30
  • 88.78 (n)
Mouse
(Mus musculus)
Mammalia Wdr59 30 17 31
  • 88.36 (n)
OneToOne
Chicken
(Gallus gallus)
Aves WDR59 30 31
  • 80.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WDR59 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wdr59 30
  • 73.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5067 30
Zebrafish
(Danio rerio)
Actinopterygii wdr59 31
  • 72 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12997 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008331 30
  • 48.53 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4705 30 31
  • 47.03 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTC5 30 31 33
  • 42.52 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19734g 30
  • 42.17 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR067W 30
  • 41.45 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC11E3.05 30
  • 42.29 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for WDR59 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for WDR59 Gene

ENSEMBL:
Gene Tree for WDR59 (if available)
TreeFam:
Gene Tree for WDR59 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR59: view image

Paralogs for WDR59 Gene

Paralogs for WDR59 Gene

Pseudogenes.org Pseudogenes for WDR59 Gene

genes like me logo Genes that share paralogs with WDR59: view

Variants for WDR59 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR59 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710400 Benign: not provided 74,893,815(-) A/AG INTRON_VARIANT
768792 Benign: not provided 74,909,573(-) T/C MISSENSE_VARIANT
780186 Benign: not provided 74,874,248(-) G/A SYNONYMOUS_VARIANT
780187 Benign: not provided 74,888,208(-) A/G SYNONYMOUS_VARIANT
784659 Benign: not provided 74,915,992(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for WDR59 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR59 Gene

Variant ID Type Subtype PubMed ID
dgv3019n100 CNV loss 25217958
esv2666064 CNV deletion 23128226
esv3639077 CNV loss 21293372
esv3639078 CNV loss 21293372
nsv472419 CNV novel sequence insertion 20440878
nsv510420 OTHER sequence alteration 20534489
nsv526213 CNV loss 19592680
nsv572977 CNV loss 21841781
nsv572978 CNV loss 21841781
nsv833280 CNV loss 17160897
nsv978001 CNV duplication 23825009

Variation tolerance for WDR59 Gene

Residual Variation Intolerance Score: 6.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR59 Gene

Human Gene Mutation Database (HGMD)
WDR59
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR59

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR59 Gene

Disorders for WDR59 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WDR59 Gene - From: DISEASES

Disorder Aliases PubMed IDs
intermittent explosive disorder
  • explosive personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search WDR59 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR59

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with WDR59: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR59 Gene

Publications for WDR59 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4
  3. The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway. (PMID: 26972053) Chantranupong L … Sabatini DM (Cell 2016) 3 4
  4. The Sestrins interact with GATOR2 to negatively regulate the amino-acid-sensing pathway upstream of mTORC1. (PMID: 25263562) Chantranupong L … Sabatini DM (Cell reports 2014) 3 4
  5. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PMID: 23723238) Bar-Peled L … Sabatini DM (Science (New York, N.Y.) 2013) 3 4

Products for WDR59 Gene

Sources for WDR59 Gene