WDR74 (WD repeat domain 74)

Gene

• Entrez ID: 54663
• Gene name: WD repeat domain 74
• Gene symbol: WDR74
• Synonyms (NCBI Gene): Nsa1
• Chromosome: 11
• Chromosome location: 11q12.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027617	hsa-miR-98-5p	Microarray	19088304
MIRT028577	hsa-miR-30a-5p	Proteomics	18668040
MIRT032316	hsa-let-7b-5p	Proteomics	18668040
MIRT047671	hsa-miR-10a-5p	CLASH	23622248
MIRT1491432	hsa-miR-214	CLIP-seq
MIRT1491433	hsa-miR-3619-5p	CLIP-seq
MIRT1491434	hsa-miR-4291	CLIP-seq
MIRT1491435	hsa-miR-4455	CLIP-seq
MIRT1491436	hsa-miR-4699-3p	CLIP-seq
MIRT1491437	hsa-miR-4796-3p	CLIP-seq
MIRT1491438	hsa-miR-520d-5p	CLIP-seq
MIRT1491439	hsa-miR-520g	CLIP-seq
MIRT1491440	hsa-miR-520h	CLIP-seq
MIRT1491441	hsa-miR-524-5p	CLIP-seq
MIRT1491442	hsa-miR-609	CLIP-seq
MIRT1491443	hsa-miR-761	CLIP-seq
MIRT1491444	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000176	Component	Nuclear exosome (RNase complex)	IDA	26456651
GO:0001825	Process	Blastocyst formation	IEA
GO:0001825	Process	Blastocyst formation	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 26456651, 28416111, 29107693
GO:0005634	Component	Nucleus	IDA	28416111
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	26456651
GO:0005730	Component	Nucleolus	IDA	12429849, 28416111
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	IMP	29107693
GO:0006364	Process	RRNA processing	IMP	29107693
GO:0016070	Process	RNA metabolic process	IEA
GO:0016070	Process	RNA metabolic process	IEA
GO:0016070	Process	RNA metabolic process	ISS
GO:0030687	Component	Preribosome, large subunit precursor	IBA
GO:0042273	Process	Ribosomal large subunit biogenesis	IBA
GO:0042273	Process	Ribosomal large subunit biogenesis	IEA
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	26456651

Other IDs

• MIM: 617947
• HGNC: 25529
• e!Ensembl: ENSG00000133316

Protein

• UniProt ID: Q6RFH5
• Protein name: WD repeat-containing protein 74 (NOP seven-associated protein 1)
• Protein function: Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required fo
• PDB: 8FKP, 8FKR, 8FKT, 8FKV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	259 → 297	WD domain, G-beta repeat	Repeat

• Sequence:

  MAAAAARWNHVWVGTETGILKGVNLQRKQAANFTAGGQPRREEAVSALCWGTGGETQMLV
  GCADRTVKHFSTEDGIFQGQRHCPGGEGMFRGLAQADGTLITCVDSGILRVWHDKDKDTS
  SDPLLELRVGPGVCRMRQDPAHPHVVATGGKENALKIWDLQGSEEPVFRAKNVRNDWLDL
  RVPIWDQDIQFLPGSQKLVTCTGYHQVRVYDPASPQRRPVLETTYGEYPLTAMTLTPGGN
  SVIVGNTHGQLAEIDLRQGRLLGCLKGLAGSVRGLQCHPSKPLLASCGLDRVLRIHRIQN
  PRGLEHKVYLKSQLNCLLLSGRDNWEDEPQEPQEPNKVPLEDTETDELWASLEAAAKRKL
  SGLEQPQGALQTRRRKKKRPGSTSP

• Sequence length: 385

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
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	25261935		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	25261935		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	CTD_human_DG	25261935		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36658180	Associate	★☆☆☆☆ Found in Text Mining only