1. Gene
  2. RRBP1 - ribosome binding protein 1 Gene

RRBP1 - ribosome binding protein 1 Gene

Homo sapiens

Also known as RRp; hES; p180; ES130; ES/130

Gene ID: 6238 | Gene type: protein coding

About RRBP1

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:17,613,679-17,682,242 (from NCBI)

This gene has 10 transcripts (splice variants) and 229 orthologues. Ubiquitous expression in thyroid (RPKM 72.8), colon (RPKM 63.4) and 25 other tissues.

Summary

This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]

RRBP1 Products(3)

mRNA Protein Name
NM_001042576.2 NP_001036041.2 ribosome-binding protein 1 isoform 2
NM_001365613.2 NP_001352542.1 ribosome-binding protein 1 isoform 1
NM_004587.3 NP_004578.3 ribosome-binding protein 1 isoform 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
30021884 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

RRBP1 Protein Structure

Rib_recp_KP_reg

Rib_recp_KP_reg: Ribosome receptor lysine/proline rich region (33 - 171)

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  • 977 a.a.
Protein Preferred Names Protein Names

ribosome-binding protein 1

180 kDa ribosome receptor homolog

Related Diseases

Diseases Alias
Epithelioid Inflammatory Myofibroblastic Sarcoma
Flinders Island Spotted Fever

Fisf

Thai Tick Typhus

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

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
Canis familiaris RRBP1 VGNC VGNC:45757
Mus musculus RRBP1 MGD MGI:1932395
Bos taurus RRBP1 VGNC VGNC:57021
Rattus norvegicus RRBP1 RGD RGD:1306536
Macaca mulatta RRBP1 VGNC VGNC:76938
Felis catus RRBP1 VGNC VGNC:64772