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

Summary

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Expression of RRBP1 in epithelial ovarian cancer and its clinical significance.
Title: Expression of RRBP1 in epithelial ovarian cancer and its clinical significance.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G18116 (e-PCR)
- UniSTS:65396

G32309 (e-PCR)
- UniSTS:116904

A005W17 (e-PCR)
- UniSTS:59840

A005Z23 (e-PCR)
- UniSTS:40190

Clone Names

FLJ36146, MGC157720, MGC157721, DKFZp586A1420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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 more info	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)

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
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
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