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RGS7BP regulator of G protein signaling 7 binding protein [ Homo sapiens (human) ]

Gene ID: 401190, updated on 5-Mar-2024

Summary

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Official Symbol
RGS7BPprovided by HGNC
Official Full Name
regulator of G protein signaling 7 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:23271
See related
Ensembl:ENSG00000186479 MIM:610890; AllianceGenome:HGNC:23271
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
R7BP
Summary
This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Expression
Biased expression in brain (RPKM 14.8), prostate (RPKM 2.8) and 9 other tissues See more
Orthologs
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Genomic context

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Location:
5q12.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (64506015..64612319)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65326081..65432392)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (63801842..63908146)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63256149-63256370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:63257009-63257986 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63315837-63316027 Neighboring gene 5-hydroxytryptamine receptor 1A Neighboring gene Sharpr-MPRA regulatory region 1263 Neighboring gene ring finger protein 180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63702820-63703320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63703321-63703821 Neighboring gene RNA, 7SL, cytoplasmic 169, pseudogene Neighboring gene RNA, U6 small nuclear 294, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22598 Neighboring gene uncharacterized LOC124900984 Neighboring gene mitochondrial ribosomal protein L49 pseudogene 1

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
  • 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. Association analysis of RGS7BP gene polymorphisms with aspirin intolerance in asthmatic patients. Lee EH, et al. Ann Allergy Asthma Immunol, 2011 Apr. PMID 21457877
  2. R9AP and R7BP: traffic cops for the RGS7 family in phototransduction and neuronal GPCR signaling. Jayaraman M, et al. Trends Pharmacol Sci, 2009 Jan. PMID 19042037, Free PMC Article
  3. R7BP, a novel neuronal protein interacting with RGS proteins of the R7 family. Martemyanov KA, et al. J Biol Chem, 2005 Feb 18. PMID 15632198
  4. Structural organization of a major neuronal G protein regulator, the RGS7-Gβ5-R7BP complex. Patil DN, et al. Elife, 2018 Dec 12. PMID 30540250, Free PMC Article
  5. RGS11 interacts preferentially with R7BP over Galpha(oa)--characterization of Gbeta5-free RGS11. Saleem Y, et al. Biochem Biophys Res Commun, 2009 Aug 14. PMID 19497306

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data mapped differences in deuterium exchange between the regulator of G protein signaling 7 (RGS7)-Gbeta5 protein(Gbeta5)-RGS7 family binding protein (R7BP) trimer and the RGS7-Gbeta5 dimer.
    Title: Structural organization of a major neuronal G protein regulator, the RGS7-Gβ5-R7BP complex.
  2. Data (including data from studies using transgenic mice) suggest that R7BP-RGS7 heterotrimers interact with Galpha13 to augment signaling pathways in neurons that regulate neurite morphogenesis. (R7BP = RGS7 family binding protein; RGS7 = regulator of G-protein signaling 7 protein; Galpha13 = GTP-binding protein alpha subunit 13)
    Title: Regulation of neurite morphogenesis by interaction between R7 regulator of G protein signaling complexes and G protein subunit Gα(13).
  3. R7-binding protein had a strong inhibitory effect on homo-oligomerization of RGS7.
    Title: Regulator of G Protein Signaling 7 (RGS7) Can Exist in a Homo-oligomeric Form That Is Regulated by Gαo and R7-binding Protein.
  4. BL3-ht2 of RGS7BP may be an important genetic variant associated with AERD. The haplotype of block 3 may play a protective role against aspirin hypersensitivity in asthma, perhaps by altering the responsiveness of muscarinic receptors.
    Title: Association analysis of RGS7BP gene polymorphisms with aspirin intolerance in asthmatic patients.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. the successful purification of functionally intact Gbeta5-free recombinant RGS11 was reported that differentially interact with R7BP and Galpha(oa).
    Title: RGS11 interacts preferentially with R7BP over Galpha(oa)--characterization of Gbeta5-free RGS11.
  7. cytoplasmic RGS7*Gbeta5*R7BP heterotrimers and RGS7*Gbeta5 heterodimers are equivalently inefficient regulators of G protein-coupled receptor signaling relative to plasma membrane-bound heterotrimers bearing palmitoylated R7BP.
    Title: R7BP augments the function of RGS7*Gbeta5 complexes by a plasma membrane-targeting mechanism.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
  
located_in dendritic spine head IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
regulator of G-protein signaling 7-binding protein
Names
R7 family-binding 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_001029875.3 → NP_001025046.1  regulator of G-protein signaling 7-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001025046.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC008854, AK296443, BX640900, DA404068
    Consensus CDS
    CCDS34170.1
    UniProtKB/Swiss-Prot
    B7Z3X1, Q6MZT1
    Related
    ENSP00000334851.2, ENST00000334025.3

  2. NM_001271890.2 → NP_001258819.1  regulator of G-protein signaling 7-binding protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks two alternate exons in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC008854, AK296494, BX640900
    UniProtKB/Swiss-Prot
    Q6MZT1
    UniProtKB/TrEMBL
    B4DKB7

  3. NM_001271891.2 → NP_001258820.1  regulator of G-protein signaling 7-binding protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 3) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC008854, AC035143, BX640900, DA211241, DC342795
    UniProtKB/Swiss-Prot
    Q6MZT1

RNA

  1. NR_073511.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008854, AC035143, BX640900, DA417118

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    64506015..64612319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248502.5 → XP_005248559.1  regulator of G-protein signaling 7-binding protein isoform X1

RNA

  1. XR_948251.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    65326081..65432392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352581.1 → XP_054208556.1  regulator of G-protein signaling 7-binding protein isoform X1

RNA

  1. XR_008487115.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6MZT1.3 GenPept UniProtKB/Swiss-Prot:Q6MZT1

Gene LinkOut

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