This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3... See more...

Aliases for WDR83 Gene

Aliases for WDR83 Gene

  • WD Repeat Domain 83 2 3 5
  • MAPK Organizer 1 2 3 4
  • MORG1 2 3 4
  • Mitogen-Activated Protein Kinase Organizer 1 3 4
  • WD Repeat Domain-Containing Protein 83 3 4
  • WDR83 5

External Ids for WDR83 Gene

Previous GeneCards Identifiers for WDR83 Gene

  • GC19P012777
  • GC19P012350

Summaries for WDR83 Gene

Entrez Gene Summary for WDR83 Gene

  • This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for WDR83 Gene

WDR83 (WD Repeat Domain 83) is a Protein Coding gene. Diseases associated with WDR83 include Hypoxia and Cystathioninuria. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include kinase activity.

UniProtKB/Swiss-Prot Summary for WDR83 Gene

  • Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing.

Additional gene information for WDR83 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WDR83 Gene

Genomics for WDR83 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WDR83 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WDR83 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WDR83

Genomic Locations for WDR83 Gene

Genomic Locations for WDR83 Gene
chr19:12,666,802-12,675,832
(GRCh38/hg38)
Size:
9,031 bases
Orientation:
Plus strand
chr19:12,777,614-12,786,646
(GRCh37/hg19)
Size:
9,033 bases
Orientation:
Plus strand

Genomic View for WDR83 Gene

Genes around WDR83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR83 Gene

Proteins for WDR83 Gene

  • Protein details for WDR83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRX9-WDR83_HUMAN
    Recommended name:
    WD repeat domain-containing protein 83
    Protein Accession:
    Q9BRX9
    Secondary Accessions:
    • B2RAF1
    • Q53FT6

    Protein attributes for WDR83 Gene

    Size:
    315 amino acids
    Molecular mass:
    34343 Da
    Quaternary structure:
    • Interacts with EGLN3/PHD3. Interacts with ERK signaling proteins MAP2K1/MEK1, MAP2K2/MEK2, LAMTOR3, ARAF/Raf-1, MAPK1/ERK2 and MAPK3/ERK1 (By similarity). Identified in the spliceosome C complex.

neXtProt entry for WDR83 Gene

Post-translational modifications for WDR83 Gene

  • Ubiquitination at Lys19, Lys47, and Lys50
  • Modification sites at PhosphoSitePlus

Other Protein References for WDR83 Gene

No data available for DME Specific Peptides for WDR83 Gene

Domains & Families for WDR83 Gene

Gene Families for WDR83 Gene

Suggested Antigen Peptide Sequences for WDR83 Gene

GenScript: Design optimal peptide antigens:
  • Mitogen-activated protein kinase organizer 1 (WDR83_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRX9

UniProtKB/Swiss-Prot:

WDR83_HUMAN :
  • Belongs to the WD repeat MORG1 family.
Family:
  • Belongs to the WD repeat MORG1 family.
genes like me logo Genes that share domains with WDR83: view

Function for WDR83 Gene

Molecular function for WDR83 Gene

UniProtKB/Swiss-Prot Function:
Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). May also be involved in pre-mRNA splicing.

Phenotypes From GWAS Catalog for WDR83 Gene

Gene Ontology (GO) - Molecular Function for WDR83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 22365833
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with WDR83: view
genes like me logo Genes that share phenotypes with WDR83: view

Animal Models for WDR83 Gene

MGI Knock Outs for WDR83:

Animal Model Products

CRISPR Products

miRNA for WDR83 Gene

miRTarBase miRNAs that target WDR83

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WDR83

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WDR83 Gene

Localization for WDR83 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR83 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear. {ECO:0000250}.

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 WDR83 gene
Compartment Confidence
nucleus 5
endosome 4
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IEA,IDA 11991638
GO:0005737 cytoplasm IEA --
GO:0010008 endosome membrane TAS --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with WDR83: view

Pathways & Interactions for WDR83 Gene

PathCards logo

SuperPathways for WDR83 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 Innate Immune System
5 Signaling by GPCR
genes like me logo Genes that share pathways with WDR83: view

Pathways by source for WDR83 Gene

SIGNOR curated interactions for WDR83 Gene

Activates:

Gene Ontology (GO) - Biological Process for WDR83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000375 RNA splicing, via transesterification reactions IDA 11991638
GO:0000398 mRNA splicing, via spliceosome IDA 11991638
GO:0001666 response to hypoxia IEA --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with WDR83: view

Drugs & Compounds for WDR83 Gene

No Compound Related Data Available

Transcripts for WDR83 Gene

mRNA/cDNA for WDR83 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
11 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 WDR83

Alternative Splicing Database (ASD) splice patterns (SP) for WDR83 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1:
SP2: - -

Relevant External Links for WDR83 Gene

GeneLoc Exon Structure for
WDR83

Expression for WDR83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WDR83 Gene

Protein differential expression in normal tissues from HIPED for WDR83 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.4), Tlymphocyte (26.1), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WDR83 Gene



Protein tissue co-expression partners for WDR83 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WDR83

SOURCE GeneReport for Unigene cluster for WDR83 Gene:

Hs.657204

Evidence on tissue expression from TISSUES for WDR83 Gene

  • Kidney(4.4)
  • Muscle(4.3)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with WDR83: 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 WDR83 Gene

Orthologs for WDR83 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WDR83 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WDR83 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MORG1 31
  • 95 (a)
OneToOne
WDR83 30
  • 90.58 (n)
Dog
(Canis familiaris)
Mammalia WDR83 30 31
  • 89.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Wdr83 30 17 31
  • 88.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wdr83 30
  • 87.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia WDR83 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WDR83 31
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WDR83 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia wdr83 30
  • 72.4 (n)
Str.2857 30
Zebrafish
(Danio rerio)
Actinopterygii wdr83 30 31
  • 69.44 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1078 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008129 30
  • 57.51 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4935 30 31
  • 52.63 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F33G12.2 30 31
  • 49.49 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G64730 30
  • 52.03 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0543400 30
  • 56.05 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8158 30
Species where no ortholog for WDR83 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for WDR83 Gene

ENSEMBL:
Gene Tree for WDR83 (if available)
TreeFam:
Gene Tree for WDR83 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WDR83: view image

Paralogs for WDR83 Gene

(28) SIMAP similar genes for WDR83 Gene using alignment to 5 proteins:

  • WDR83_HUMAN
  • F8VSE4_HUMAN
  • G3V221_HUMAN
  • H0YIE8_HUMAN
  • H7C0S9_HUMAN
genes like me logo Genes that share paralogs with WDR83: view

No data available for Paralogs for WDR83 Gene

Variants for WDR83 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WDR83 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
690312 Uncertain Significance: Attention deficit hyperactivity disorder 12,670,611(+) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
777522 Benign: not provided 12,669,899(+) C/T INTRON_VARIANT
rs34373915 - p.Gly278Ser
rs35092999 - p.Arg304Gln

Additional dbSNP identifiers (rs#s) for WDR83 Gene

Structural Variations from Database of Genomic Variants (DGV) for WDR83 Gene

Variant ID Type Subtype PubMed ID
dgv138n111 CNV deletion 26073780
nsv1160586 CNV duplication 26073780
nsv472659 CNV novel sequence insertion 20440878
nsv953977 CNV deletion 24416366

Variation tolerance for WDR83 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR83 Gene

Human Gene Mutation Database (HGMD)
WDR83
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR83

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR83 Gene

Disorders for WDR83 Gene

MalaCards: The human disease database

(4) MalaCards diseases for WDR83 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypoxia
cystathioninuria
  • cystathionase deficiency
attention deficit-hyperactivity disorder
  • adhd
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search WDR83 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with WDR83: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR83 Gene

Publications for WDR83 Gene

  1. Modular construction of a signaling scaffold: MORG1 interacts with components of the ERK cascade and links ERK signaling to specific agonists. (PMID: 15118098) Vomastek T … Weber MJ (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 23
  2. The novel WD-repeat protein Morg1 acts as a molecular scaffold for hypoxia-inducible factor prolyl hydroxylase 3 (PHD3). (PMID: 16407229) Hopfer U … Wolf G (The Journal of biological chemistry 2006) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for WDR83 Gene

  • Signalway Proteins for WDR83

Sources for WDR83 Gene