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RRBP1 ribosome binding protein 1 [ Homo sapiens (human) ]

Gene ID: 6238, updated on 3-Nov-2024

Summary

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Official Symbol
RRBP1provided by HGNC
Official Full Name
ribosome binding protein 1provided by HGNC
Primary source
HGNC:HGNC:10448
See related
Ensembl:ENSG00000125844 MIM:601418; AllianceGenome:HGNC:10448
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RRp; hES; p180; ES130; ES/130
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]
Expression
Ubiquitous expression in thyroid (RPKM 72.8), colon (RPKM 63.4) and 25 other tissues See more
Orthologs
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Genomic context

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See RRBP1 in Genome Data Viewer
Location:
20p12.1
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (17613679..17682242, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (17664347..17733374, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17594324..17662887, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 69 Neighboring gene ras homolog family member G pseudogene Neighboring gene destrin, actin depolymerizing factor Neighboring gene NANOG hESC enhancer GRCh37_chr20:17583143-17583644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17592387-17593110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17594559-17595282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17595283-17596006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17616513-17617386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17617387-17618260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17629025-17629728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12694 Neighboring gene Sharpr-MPRA regulatory region 8855 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:17660181-17661380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17661572-17662244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17566 Neighboring gene uncharacterized LOC105372547 Neighboring gene BANF family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17731191-17731743 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:17733069-17733774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17745451-17745952 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59976 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:17782572-17782760 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59986 Neighboring gene uncharacterized LOC107985440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17815795-17816372 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:17829988-17831187

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Alternatively spliced forms of the P180 ribosome receptor differ in their ability to induce the proliferation of rough endoplasmic reticulum. Bai JZ, et al. Cell Biol Int, 2008 May. PMID 18083570
  2. Enhancement of procollagen biosynthesis by p180 through augmented ribosome association on the endoplasmic reticulum in response to stimulated secretion. Ueno T, et al. J Biol Chem, 2010 Sep 24. PMID 20647306, Free PMC Article
  3. ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking. Chiu CH, et al. J Biomed Sci, 2023 Feb 19. PMID 36803854, Free PMC Article
  4. Expression of RRBP1 in epithelial ovarian cancer and its clinical significance. Ma J, et al. Biosci Rep, 2019 Jul 31. PMID 31285390, Free PMC Article
  5. Correlation between reticulum ribosome-binding protein 1 (RRBP1) overexpression and prognosis in cervical squamous cell carcinoma. Zhu J, et al. Biosci Trends, 2020 Sep 21. PMID 32536673

See all (184) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking.
    Title: ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking.
  2. RRBP1 rewires cisplatin resistance in oral squamous cell carcinoma by regulating Hippo pathway.
    Title: RRBP1 rewires cisplatin resistance in oral squamous cell carcinoma by regulating Hippo pathway.
  3. Hypomethylated RRBP1 Potentiates Tumor Malignancy and Chemoresistance in Upper Tract Urothelial Carcinoma.
    Title: Hypomethylated RRBP1 Potentiates Tumor Malignancy and Chemoresistance in Upper Tract Urothelial Carcinoma.
  4. Correlation between reticulum ribosome-binding protein 1 (RRBP1) overexpression and prognosis in cervical squamous cell carcinoma.
    Title: Correlation between reticulum ribosome-binding protein 1 (RRBP1) overexpression and prognosis in cervical squamous cell carcinoma.
  5. Expression of RRBP1 in epithelial ovarian cancer and its clinical significance.
    Title: Expression of RRBP1 in epithelial ovarian cancer and its clinical significance.
  6. we found that E2F1 could bind to the RRBP1 promoter and promote the transcription of RRBP1, and the E2F1/RRBP1 axis played an important role in the process of high glucose promoting the proliferation, migration and invasion of HepG2 cells (hepatocellular carcinoma)
    Title: High glucose may promote the proliferation and metastasis of hepatocellular carcinoma via E2F1/RRBP1 pathway.
  7. RRBP1 expression was an independent prognostic factor for overall survival (OS) and disease-free survival (DFS) in patients with endometrial carcinoma (EC) (both P < 0.05).
    Title: RRBP1 overexpression is associated with progression and prognosis in endometrial endometrioid adenocarcinoma.
  8. High RRBP1 expression facilitates colorectal cancer progression and predicts an unfavourable post-operative prognosis.
    Title: Endoplasmic reticulum ribosome-binding protein 1, RRBP1, promotes progression of colorectal cancer and predicts an unfavourable prognosis.
  9. Data indicate that p180 is required for the efficient targeting of placental alkaline phosphatase (ALPP) mRNA to the endoplasmic reticulum (ER).
    Title: Identification of a region within the placental alkaline phosphatase mRNA that mediates p180-dependent targeting to the endoplasmic reticulum.
  10. RRBP1 could alleviate ER stress and help cancer cell survive
    Title: Endoplasmic reticulum ribosome-binding protein 1 (RRBP1) overexpression is frequently found in lung cancer patients and alleviates intracellular stress-induced apoptosis through the enhancement of GRP78.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ribosome binding protein 1 (RRBP1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36146, MGC157720, MGC157721, DKFZp586A1420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in osteoblast differentiation HDA PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in translation TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in ribosome TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ribosome-binding protein 1
Names
180 kDa ribosome receptor homolog
ES/130-related protein
endoplasmic reticulum ribosome-binding protein 1
ribosomal receptor-binding protein 1
ribosome binding protein 1 homolog 180kDa (dog)
ribosome receptor protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001042576.2 → NP_001036041.2  ribosome-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL132765
    Consensus CDS
    CCDS13128.1
    Related
    ENSP00000367038.2, ENST00000377807.6
    Conserved Domains (2) summary
    TIGR02168
    Location:265 → 962
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam05104
    Location:33 → 168
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

  2. NM_001365613.2 → NP_001352542.1  ribosome-binding protein 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL132765, KF456852
    Consensus CDS
    CCDS93010.1
    UniProtKB/Swiss-Prot
    A0A0A0MRV0, A2A2S6, A6NCN6, O75300, O75301, Q5W165, Q96SB2, Q9BWP1, Q9H476, Q9P2E9
    UniProtKB/TrEMBL
    A7BI36
    Related
    ENSP00000367044.1, ENST00000377813.6
    Conserved Domains (3) summary
    pfam05104
    Location:33 → 165
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    cl25732
    Location:698 → 1395
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:290 → 1020
    Neuromodulin_N; Gap junction protein N-terminal region

  3. NM_004587.3 → NP_004578.3  ribosome-binding protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL132765
    Consensus CDS
    CCDS13128.1
    Related
    ENSP00000354045.4, ENST00000360807.8
    Conserved Domains (2) summary
    TIGR02168
    Location:265 → 962
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam05104
    Location:33 → 168
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    17613679..17682242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    17664347..17733374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2E9.5 GenPept UniProtKB/Swiss-Prot:Q9P2E9

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