UTP14A (UTP14A small subunit processome component)

Gene

• Entrez ID: 10813
• Gene name: UTP14A small subunit processome component
• Gene symbol: UTP14A
• Synonyms (NCBI Gene): NYCO16, SDCCAG16, Utp14, dJ537K23.3
• Chromosome: X
• Chromosome location: Xq26.1
• Summary: This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosom

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025564	hsa-miR-34a-5p	Proteomics	21566225
MIRT025564	hsa-miR-34a-5p	Proteomics	21566225
MIRT032021	hsa-miR-16-5p	Proteomics	18668040
MIRT047019	hsa-miR-204-5p	CLASH	23622248
MIRT046875	hsa-miR-221-3p	CLASH	23622248
MIRT046233	hsa-miR-27b-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	15383276, 16189514, 21900206, 23455924, 30582406, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0032040	Component	Small-subunit processome	IBA
GO:0032040	Component	Small-subunit processome	IEA
GO:0042254	Process	Ribosome biogenesis	IEA

Other IDs

• MIM: 300508
• HGNC: 10665
• e!Ensembl: ENSG00000156697

Protein

• UniProt ID: Q9BVJ6
• Protein name: U3 small nucleolar RNA-associated protein 14 homolog A (Antigen NY-CO-16) (Serologically defined colon cancer antigen 16)
• Protein function: May be required for ribosome biogenesis.
• PDB: 7MQ8, 7MQ9, 7MQA, 7WTS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04615	Utp14	23 → 735		Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:15289605}.
• Sequence:

  MTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRK
  LAERSEASLKVSEFNVSSEGSGEKLVLADLLEPVKTSSSLATVKKQLSRVKSKKTVELPL
  NKEEIERIHREVAFNKTAQVLSKWDPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLSGWKA
  RTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAK
  ARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQ
  NSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPD
  VVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEIL
  LREFEERRSLRKRSELSQDAEPAGSQETKDSGSQEVLSELRVLSQKLKENHQSRKQKASS
  EGTIPQVQREEPAPEEEEPLLLQRPERVQTLEELEELGKEECFQNKELPRPVLEGQQSER
  TPNNRPDAPKEKKKKEQMIDLQNLLTTQSPSVKSLAVPTIEELEDEEERNHRQMIKEAFA
  GDDVIRDFLKEKREAVEASKPKDVDLTLPGWGEWGGVGLKPSAKKRRRFLIKAPEGPPRK
  DKNLPNVIINEKRNIHAAAHQVRVLPYPFTHHWQFERTIQTPIGSTWNTQRAFQKLTTPK
  VVTKPGHIINPIKAEDVGYRSSSRSDLSVIQRNPKRITTRHKKQLKKCSVD

• Sequence length: 771

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Reactome:

Major pathway of rRNA processing in the nucleolus and cytosol

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
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bowen-Conradi syndrome	Bowen-Conradi Syndrome	BEFREE	24240090		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31496055	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30929921		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35601016	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31496055	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31496055		★☆☆☆☆ Found in Text Mining only
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS	Cirrhosis	BEFREE	24240090		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	24240090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31496055		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	24240090		★☆☆☆☆ Found in Text Mining only