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Aliases for RRBP1 Gene

Aliases for RRBP1 Gene

  • Ribosome Binding Protein 1 2 3 5
  • Ribosome Binding Protein 1 Homolog 180kDa (Dog) 2 3
  • 180 KDa Ribosome Receptor Homolog 3 4
  • Ribosome Receptor Protein 3 4
  • ES/130-Related Protein 3 4
  • RRp 3 4
  • Ribosome Binding Protein 1 (Dog 180kD Homolog) 2
  • Ribosome-Binding Protein 1 3
  • KIAA1398 4
  • ES/130 3
  • ES130 3
  • HES 3

External Ids for RRBP1 Gene

Previous GeneCards Identifiers for RRBP1 Gene

  • GC20M017582
  • GC20M017589
  • GC20M017542
  • GC20M017594
  • GC20M017557

Summaries for RRBP1 Gene

Entrez Gene Summary for RRBP1 Gene

  • 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]

GeneCards Summary for RRBP1 Gene

RRBP1 (Ribosome Binding Protein 1) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum and Ectoderm Differentiation. An important paralog of this gene is KTN1.

UniProtKB/Swiss-Prot for RRBP1 Gene

  • Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.

Gene Wiki entry for RRBP1 Gene

Additional gene information for RRBP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RRBP1 Gene

Genomics for RRBP1 Gene

GeneHancer (GH) Regulatory Elements for RRBP1 Gene

Promoters and enhancers for RRBP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J017677 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.1 1134 6.6 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 RRBP1 LOC100286962 SNORD17 ZNF133 DSTN PIR52551
GH20J017556 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21 +123.4 123445 5.4 PKNOX1 FOXA2 NEUROD1 SIN3A ZNF48 ETS1 SLC30A9 ATF7 FOS REST BFSP1 RRBP1 DSTN GCNT1P1 ENSG00000277373 GC20P017516
GH20J017566 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.1 +112.1 112051 6.5 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 DSTN BFSP1 RRBP1 ZNF133 POLR3F BANF2 GC20M017577 RN7SKP69
GH20J017954 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -282.4 -282407 19.8 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 MGME1 SNORD17 SNX5 GC20M017968 PIR32960 GC20M017966 LOC100286962 RRBP1 ZNF133 OVOL2
GH20J017858 Enhancer 1.8 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.5 -177.3 -177286 2.2 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 RRBP1 BANF2 SNX5 MGME1 GC20M017851 LOC105372548
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RRBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RRBP1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • STAT3
  • GR-alpha
  • GR
  • AhR
  • c-Fos

Genomic Locations for RRBP1 Gene

Genomic Locations for RRBP1 Gene
chr20:17,613,678-17,682,295
(GRCh38/hg38)
Size:
68,618 bases
Orientation:
Minus strand
chr20:17,594,323-17,662,940
(GRCh37/hg19)
Size:
68,618 bases
Orientation:
Minus strand

Genomic View for RRBP1 Gene

Genes around RRBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RRBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RRBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RRBP1 Gene

Proteins for RRBP1 Gene

  • Protein details for RRBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2E9-RRBP1_HUMAN
    Recommended name:
    Ribosome-binding protein 1
    Protein Accession:
    Q9P2E9
    Secondary Accessions:
    • A0A0A0MRV0
    • A2A2S6
    • A6NCN6
    • O75300
    • O75301
    • Q5W165
    • Q96SB2
    • Q9BWP1
    • Q9H476

    Protein attributes for RRBP1 Gene

    Size:
    1410 amino acids
    Molecular mass:
    152456 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92636.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RRBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RRBP1 Gene

Post-translational modifications for RRBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RRBP1 Gene

Domains & Families for RRBP1 Gene

Gene Families for RRBP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RRBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RRBP1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RRBP1: view

No data available for UniProtKB/Swiss-Prot for RRBP1 Gene

Function for RRBP1 Gene

Molecular function for RRBP1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane.
GENATLAS Biochemistry:
ribosome binding protein 1

Phenotypes From GWAS Catalog for RRBP1 Gene

Gene Ontology (GO) - Molecular Function for RRBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0038023 signaling receptor activity TAS 9628588
genes like me logo Genes that share ontologies with RRBP1: view
genes like me logo Genes that share phenotypes with RRBP1: view

Animal Model Products

Clone Products

  • Addgene plasmids for RRBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RRBP1 Gene

Localization for RRBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RRBP1 Gene

Endoplasmic reticulum membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RRBP1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RRBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005840 ribosome TAS 9628588
GO:0016020 membrane IEA,HDA 16210410
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RRBP1: view

Pathways & Interactions for RRBP1 Gene

genes like me logo Genes that share pathways with RRBP1: view

Pathways by source for RRBP1 Gene

1 BioSystems pathway for RRBP1 Gene
1 KEGG pathway for RRBP1 Gene

Gene Ontology (GO) - Biological Process for RRBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006412 translation TAS 9628588
GO:0007165 signal transduction IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with RRBP1: view

No data available for SIGNOR curated interactions for RRBP1 Gene

Drugs & Compounds for RRBP1 Gene

(1) Drugs for RRBP1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Radezolid Investigational Pharma Target 2
genes like me logo Genes that share compounds with RRBP1: view

Transcripts for RRBP1 Gene

mRNA/cDNA for RRBP1 Gene

Unigene Clusters for RRBP1 Gene

Ribosome binding protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for RRBP1

Alternative Splicing Database (ASD) splice patterns (SP) for RRBP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6: -
SP7:
SP8: - - - - - - - -
SP9:
SP10: -
SP11:
SP12: -
SP13:

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RRBP1 Gene

GeneLoc Exon Structure for
RRBP1
ECgene alternative splicing isoforms for
RRBP1

Expression for RRBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RRBP1 Gene

mRNA differential expression in normal tissues according to GTEx for RRBP1 Gene

This gene is overexpressed in Pancreas (x6.3).

Protein differential expression in normal tissues from HIPED for RRBP1 Gene

This gene is overexpressed in Liver, secretome (21.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RRBP1 Gene



Protein tissue co-expression partners for RRBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RRBP1 Gene:

RRBP1

SOURCE GeneReport for Unigene cluster for RRBP1 Gene:

Hs.472213

Evidence on tissue expression from TISSUES for RRBP1 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Intestine(3.8)
  • Pancreas(3.5)
  • Lung(3.4)
  • Blood(2.9)
  • Kidney(2.8)
  • Heart(2.7)
  • Eye(2.2)
  • Stomach(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with RRBP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RRBP1 Gene

Orthologs for RRBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RRBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RRBP1 34 33
  • 99.15 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RRBP1 34
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RRBP1 34
  • 58 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rrbp1 34
  • 56 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RRBP1 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RRBP1 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves RRBP1 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RRBP1 34
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rrbp1b 34
  • 34 (a)
OneToMany
rrbp1a 34
  • 30 (a)
OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13657 33
Species where no ortholog for RRBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RRBP1 Gene

ENSEMBL:
Gene Tree for RRBP1 (if available)
TreeFam:
Gene Tree for RRBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RRBP1: view image

Paralogs for RRBP1 Gene

Paralogs for RRBP1 Gene

(1) SIMAP similar genes for RRBP1 Gene using alignment to 9 proteins:

  • RRBP1_HUMAN
  • A1A5C4_HUMAN
  • A1A5C5_HUMAN
  • A2A2S5_HUMAN
  • A7BI36_HUMAN
  • F8W7S5_HUMAN
  • Q05DK7_HUMAN
  • Q32NB1_HUMAN
  • V9GY78_HUMAN

Pseudogenes.org Pseudogenes for RRBP1 Gene

genes like me logo Genes that share paralogs with RRBP1: view

Variants for RRBP1 Gene

Sequence variations from dbSNP and Humsavar for RRBP1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000026925 -- 17,648,847(-) G/A intron_variant
rs1000033382 -- 17,676,108(-) C/A intron_variant
rs1000038609 -- 17,682,807(-) C/A upstream_transcript_variant
rs1000085264 -- 17,675,854(-) G/A intron_variant
rs1000119593 -- 17,653,693(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RRBP1 Gene

Variant ID Type Subtype PubMed ID
esv1521395 CNV insertion 17803354
esv23450 CNV gain 19812545
nsv1073048 CNV deletion 25765185
nsv1143978 CNV deletion 24896259
nsv180652 CNV deletion 16902084
nsv3311 CNV insertion 18451855
nsv458943 CNV loss 19166990
nsv519542 CNV loss 19592680
nsv527274 CNV loss 19592680
nsv585662 CNV loss 21841781
nsv828695 CNV gain 20364138
nsv952993 CNV deletion 24416366
nsv952994 CNV deletion 24416366

Variation tolerance for RRBP1 Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.55; 97.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RRBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RRBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RRBP1 Gene

Disorders for RRBP1 Gene

Additional Disease Information for RRBP1

No disorders were found for RRBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RRBP1 Gene

Publications for RRBP1 Gene

  1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58

Products for RRBP1 Gene

Sources for RRBP1 Gene

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