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

    Gene ID: 6238, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001042576.2NP_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:265962
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam05104
      Location:33168
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    2. NM_001365613.2NP_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:33165
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      cl25732
      Location:6981395
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26511
      Location:2901020
      Neuromodulin_N; Gap junction protein N-terminal region
    3. NM_004587.3NP_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:265962
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam05104
      Location:33168
      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)