WDR83 (WD repeat domain 83)

Gene

• Entrez ID: 84292
• Gene name: WD repeat domain 83
• Gene symbol: WDR83
• Synonyms (NCBI Gene): MORG1
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: 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)

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000375	Process	RNA splicing, via transesterification reactions	IDA	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	11991638
GO:0001666	Process	Response to hypoxia	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 25814554, 28514442, 31515488, 32296183, 32814053, 33961781, 35044719
GO:0005634	Component	Nucleus	IEA
GO:0005681	Component	Spliceosomal complex	IDA	11991638
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IEA
GO:0060674	Process	Placenta blood vessel development	IEA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0090594	Process	Inflammatory response to wounding	IEA

Other IDs

• MIM: 616850
• HGNC: 32672
• e!Ensembl: ENSG00000123154

Protein

• UniProt ID: Q9BRX9
• Protein name: WD repeat domain-containing protein 83 (Mitogen-activated protein kinase organizer 1) (MAPK organizer 1)
• Protein 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,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	15 → 53	WD domain, G-beta repeat	Repeat
  PF00400	WD40	57 → 95	WD domain, G-beta repeat	Repeat
  PF00400	WD40	99 → 137	WD domain, G-beta repeat	Repeat
  PF00400	WD40	223 → 263	WD domain, G-beta repeat	Repeat

• Sequence:

  MAFPEPKPRPPELPQKRLKTLDCGQGAVRAVRFNVDGNYCLTCGSDKTLKLWNPLRGTLL
  RTYSGHGYEVLDAAGSFDNSSLCSGGGDKAVVLWDVASGQVVRKFRGHAGKVNTVQFNEE
  ATVILSGSIDSSIRCWDCRSRRPEPVQTLDEARDGVSSVKVSDHEILAGSVDGRVRRYDL
  RMGQLFSDYVGSPITCTCFSRDGQCTLVSSLDSTLRLLDKDTGELLGEYKGHKNQEYKLD
  CCLSERDTHVVSCSEDGKVFFWDLVEGALALALPVGSGVVQSLAYHPTEPCLLTAMGGSV
  QCWREEAYEAEDGAG

• Sequence length: 315

Pathways

Reactome:

MAP2K and MAPK activation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Attention deficit hyperactivity disorder	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERCHOLANEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Attention Deficit Disorder with Hyperactivity	Associate	28332277	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22491477	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	22491477	★☆☆☆☆ Found in Text Mining only