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Aliases for WDR83 Gene

Aliases for WDR83 Gene

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

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. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include kinase activity. An important paralog of this gene is ATG16L2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for WDR83 Gene

Genomics for WDR83 Gene

GeneHancer (GH) Regulatory Elements for WDR83 Gene

Promoters and enhancers for WDR83 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
GH19I012664 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 863 6.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000269590 WDR83 MAN2B1 GC19M012663 WDR83OS ZNF490 ZNF20 ZNF44 ZNF136 ZNF700
GH19I013148 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.2 +486.9 486895 10.2 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 STX10 ENSG00000267598 IER2 CCDC130 ZNF136 ZNF44 TRMT1 ZNF709 ZNF564 ZNF791
GH19I012034 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10 -631.3 -631275 2.1 PKNOX1 ZNF493 ARID4B SIN3A ZNF2 ZNF48 YY1 POLR2B GLIS2 ATF7 GC19P012034 ZNF433 ZNF433-AS1 ZNF491 ZNF788 ZNF441 ZNF439 DHPS ZNF709 ZNF625
GH19I011693 Enhancer 1.5 FANTOM5 Ensembl ENCODE 12.6 -972.2 -972239 2.1 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 SLC30A9 POLR2B ZNF213 GC19M011701 ZNF441 ZNF439 ZNF709 ZNF136 ZNF763 ZNF823 ZNF788 WDR83 ZNF20
GH19I012757 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.2 +91.1 91121 1.2 FOXA2 ARID4B SIN3A ZNF2 ZNF48 ZNF143 ATF7 SP3 REST KAT8 JUNB HOOK2 ASNA1 TRIR TNPO2 MAST1 RNASEH2A RTBDN WDR83OS WDR83
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR83 on UCSC Golden Path with GeneCards custom track

Genomic Locations for WDR83 Gene

Genomic Locations for WDR83 Gene
chr19:12,666,800-12,675,832
(GRCh38/hg38)
Size:
9,033 bases
Orientation:
Plus strand
chr19:12,777,614-12,786,646
(GRCh37/hg19)

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 isoforms=19, isoforms=47, and isoforms=50

Other Protein References for WDR83 Gene

No data available for DME Specific Peptides for WDR83 Gene

Domains & Families for WDR83 Gene

Suggested Antigen Peptide Sequences for WDR83 Gene

GenScript: Design optimal peptide antigens:

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 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

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
extracellular 1
cytosol 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

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:0006397 mRNA processing IEA --
GO:0008380 RNA splicing 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

Unigene Clusters for WDR83 Gene

WD repeat domain 83:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
WDR83

Expression for WDR83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of WDR83 Gene:

WDR83

SOURCE GeneReport for Unigene cluster for WDR83 Gene:

Hs.657204

Evidence on tissue expression from TISSUES for WDR83 Gene

  • Kidney(4.3)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with WDR83: view

Primer Products

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 33 34
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia MORG1 34
  • 95 (a)
OneToOne
WDR83 33
  • 90.58 (n)
dog
(Canis familiaris)
Mammalia WDR83 33 34
  • 89.95 (n)
mouse
(Mus musculus)
Mammalia Wdr83 33 16 34
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Wdr83 33
  • 87.2 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR83 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR83 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR83 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr83 33
  • 72.4 (n)
Str.2857 33
zebrafish
(Danio rerio)
Actinopterygii wdr83 33 34
  • 69.44 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1078 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008129 33
  • 57.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4935 33 34
  • 52.63 (n)
worm
(Caenorhabditis elegans)
Secernentea F33G12.2 33 34
  • 49.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G64730 33
  • 52.03 (n)
rice
(Oryza sativa)
Liliopsida Os02g0543400 33
  • 56.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8158 33
Species where no ortholog for WDR83 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for WDR83 Gene

Paralogs for WDR83 Gene

genes like me logo Genes that share paralogs with WDR83: view

Variants for WDR83 Gene

Sequence variations from dbSNP and Humsavar for WDR83 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1057516325 likely-pathogenic, Deficiency of alpha-mannosidase 12,665,511(+) G/A upstream_transcript_variant
rs1057516501 likely-pathogenic, Deficiency of alpha-mannosidase 12,666,541(+) A/G/T upstream_transcript_variant
rs1057516682 likely-pathogenic, Deficiency of alpha-mannosidase 12,664,976(+) T/ upstream_transcript_variant
rs1057516810 likely-pathogenic, Deficiency of alpha-mannosidase 12,666,649(+) /A upstream_transcript_variant
rs1057516972 likely-pathogenic, Deficiency of alpha-mannosidase 12,666,609(+) C/CC upstream_transcript_variant

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

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

Disorders for WDR83 Gene

Additional Disease Information for WDR83

No disorders were found for WDR83 Gene.

No data available for MalaCards , 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 22 58
  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 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for WDR83 Gene

Sources for WDR83 Gene

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