1. Gene
  2. BOP1 - BOP1 ribosomal biogenesis factor Gene

BOP1 - BOP1 ribosomal biogenesis factor Gene

Homo sapiens
Gene ID: 23246 | Gene type: protein coding

About BOP1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,262,045-144,291,438 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 182 orthologues. Ubiquitous expression in testis (RPKM 10.2), appendix (RPKM 9.2) and 25 other tissues.

Summary

Enables RNA binding activity. Involved in regulation of cell cycle; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. Part of PeBoW complex. [provided by Alliance of Genome Resources, Apr 2022]

BOP1 Products(1)

mRNA Protein Name
NM_015201.5 NP_056016.1 ribosome biogenesis protein BOP1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16043514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
IMP: Inferred from mutant phenotype
17353269 GOA
involved in regulation of cell cycle IMP
IMP: Inferred from mutant phenotype
16043514 GOA
involved in regulation of signal transduction by p53 class mediator IMP
IMP: Inferred from mutant phenotype
24120868 GOA
involved in ribosomal large subunit assembly IMP
IMP: Inferred from mutant phenotype
24120868 GOA
Cellular Component GO Annotation Evidence Reference Source
part of PeBoW complex IDA
IDA: Inferred from direct assay
16043514 GOA
part of ribonucleoprotein complex IDA
IDA: Inferred from direct assay
18809582 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BOP1 Protein Structure

BOP1NT

BOP1NT: BOP1NT (NUC169) domain (144 - 402)

WD40

WD40: WD domain, G-beta repeat (408 - 441)

WD40

WD40: WD domain, G-beta repeat (655 - 689)

WD40

WD40: WD domain, G-beta repeat (720 - 745)

  • 0
  • 200
  • 400
  • 600
  • 746 a.a.
Protein Preferred Names Protein Names

ribosome biogenesis protein BOP1

block of proliferation 1

Related Diseases

Diseases Alias
Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta BOP1 VGNC VGNC:70315
Felis catus BOP1 VGNC VGNC:60149
Canis familiaris BOP1 VGNC VGNC:38498
Mus musculus BOP1 MGD MGI:1334460
Bos taurus BOP1 VGNC VGNC:26540
Rattus norvegicus BOP1 RGD RGD:1310589