Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23246
Gene name	BOP1 ribosomal biogenesis factor
Gene symbol	BOP1
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8q24.3

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043142	hsa-miR-324-5p	CLASH	23622248
MIRT038393	hsa-miR-296-3p	CLASH	23622248
MIRT2182204	hsa-miR-4323	CLIP-seq
MIRT2182205	hsa-miR-4514	CLIP-seq
MIRT2182206	hsa-miR-4645-5p	CLIP-seq
MIRT2182207	hsa-miR-4673	CLIP-seq
MIRT2182208	hsa-miR-4692	CLIP-seq
MIRT2182209	hsa-miR-940	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IMP	24120868
GO:0000448	Process	Cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0000460	Process	Maturation of 5.8S rRNA	IEA
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0000463	Process	Maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	17353269
GO:0000466	Process	Maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16043514, 16738141, 17353269, 25825154, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0030687	Component	Preribosome, large subunit precursor	IBA
GO:0030687	Component	Preribosome, large subunit precursor	IEA
GO:0042254	Process	Ribosome biogenesis	IC	17353269
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042254	Process	Ribosome biogenesis	NAS	16043514
GO:0042273	Process	Ribosomal large subunit biogenesis	IEA
GO:0042273	Process	Ribosomal large subunit biogenesis	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	16043514
GO:0070545	Component	PeBoW complex	IBA
GO:0070545	Component	PeBoW complex	IDA	16043514, 16738141, 17353269
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	IMP	24120868
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582

MIM	HGNC	e!Ensembl
610596	15519	ENSG00000261236

Q14137

Protein name

Ribosome biogenesis protein BOP1 (Block of proliferation 1 protein)

Protein function

Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.

PDB

8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08145	BOP1NT	144 → 402	BOP1NT (NUC169) domain	Domain
PF00400	WD40	403 → 441	WD domain, G-beta repeat	Repeat
PF00400	WD40	653 → 689	WD domain, G-beta repeat	Repeat
PF00400	WD40	704 → 746	WD domain, G-beta repeat	Repeat

Sequence

MAGSRGAGRTAAPSVRPEKRRSEPELEPEPEPEPPLLCTSPLSHSTGSDSGVSDSEESVF
SGLEDSGSDSSEDDDEGDEEGEDGALDDEGHSGIKKTTEEQVQASTPCPRTEMASARIGD
EYAEDSSDEEDIRNTVGNVPLEWYDDFPHVGYDLDGRRIYKPLRTRDELDQFLDKMDDPD
YWRTVQDPMTGRDLRLTDEQVALVRRLQSGQFGDVGFNPYEPAVDFFSGDVMIHPVTNRP
ADKRSFIPSLVEKEKVSRMVHAIKMGWIQPRRPRDPTPSFYDLWAQEDPNAVLGRHKMHV
PAPKLALPGHAESYNPPPEYLLSEEERLAWEQQEPGERKLSFLPRKFPSLRAVPAYGRFI
QERFERCLDLYLCPRQRKMRVNVDPEDLIPKLPRPRDLQPFPTCQALVYRGHSDLVRCLS
VSPGGQWLVSGSDDGSLRLWEVATARCVRTVPVGGVVKSVAWNPSPAVCLVAAAVEDSVL
LLNPALGDRLVAGSTDQLLSAFVPPEEPPLQPARWLEASEEERQVGLRLRICHGKPVTQV
TWHGRGDYLAVVLATQGHTQVLIHQLSRRRSQSPFRRSHGQVQRVAFHPARPFLLVASQR
SVRLYHLLRQELTKKLMPNCKWVSSLAVHPAGDNVICGSYDSKLVWFDLDLSTKPYRMLR
HHKKALRAVAFHPRYPLFASGSDDGSVIVCHGMVYNDLLQNPLLVPVKVLKGHVLTRDLG
VLDVIFHPTQPWVFSSGADGTVRLFT

Sequence length

746

Interactions

View interactions

	Reactome
			Major pathway of rRNA processing in the nucleolus and cytosol

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Dissection	Aortic dissection	Pubtator	31210846	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36497066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	37681336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32167616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33228611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26156959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18959792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32167616	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	35222794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	31210846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	GWASCAT_DG	28886342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30782837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16804918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22174824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37681336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	35222794	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

BOP1 (BOP1 ribosomal biogenesis factor)