RPF1 (ribosome production factor 1 homolog)

Gene

• Entrez ID: 80135
• Gene name: Ribosome production factor 1 homolog
• Gene symbol: RPF1
• Synonyms (NCBI Gene): BXDC5
• Chromosome: 1
• Chromosome location: 1p22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038402	hsa-miR-296-3p	CLASH	23622248
MIRT1315593	hsa-miR-31	CLIP-seq
MIRT1315594	hsa-miR-3126-3p	CLIP-seq
MIRT1315595	hsa-miR-3128	CLIP-seq
MIRT1315596	hsa-miR-4427	CLIP-seq
MIRT1315597	hsa-miR-4633-5p	CLIP-seq
MIRT1315598	hsa-miR-4680-3p	CLIP-seq
MIRT1315599	hsa-miR-4696	CLIP-seq
MIRT1315600	hsa-miR-4720-5p	CLIP-seq
MIRT1315601	hsa-miR-4799-3p	CLIP-seq
MIRT1315602	hsa-miR-491-3p	CLIP-seq
MIRT2318395	hsa-miR-1256	CLIP-seq
MIRT2318396	hsa-miR-4760-3p	CLIP-seq
MIRT2318397	hsa-miR-488	CLIP-seq
MIRT2318398	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000460	Process	Maturation of 5.8S rRNA	IBA
GO:0000470	Process	Maturation of LSU-rRNA	IBA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IDA	11864606
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 29892012
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	12429849
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0030687	Component	Preribosome, large subunit precursor	IBA
GO:0042134	Function	RRNA primary transcript binding	IEA
GO:0042254	Process	Ribosome biogenesis	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9H9Y2
• Protein name: Ribosome production factor 1 (Brix domain-containing protein 5) (Ribosome biogenesis protein RPF1)
• Protein function: May be required for ribosome biogenesis.
• PDB: 8FKP, 8FKR, 8FKT, 8FKV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04427	Brix	149 → 318	Brix domain	Domain

• Sequence:

  MAKAGDKSSSSGKKSLKRKAAAEELQEAAGAGDGATENGVQPPKAAAFPPGFSISEIKNK
  QRRHLMFTRWKQQQRKEKLAAKKKLKKEREALGDKAPPKPVPKTIDNQRVYDETTVDPND
  EEVAYDEATDEFASYFNKQTSPKILITTSDRPHGRTVRLCEQLSTVIPNSHVYYRRGLAL
  KKIIPQCIARDFTDLIVINEDRKTPNGLILSHLPNGPTAHFKMSSVRLRKEIKRRGKDPT
  EHIPEIILNNFTTRLGHSIGRMFASLFPHNPQFIGRQVATFHNQRDYIFFRFHRYIFRSE
  KKVGIQELGPRFTLKLRSLQKGTFDSKYGEYEWVHKPREMDTSRRKFHL

• Sequence length: 349

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
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	24338459		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36459010	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35601016	Associate	★☆☆☆☆ Found in Text Mining only