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

Summary

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: mouse all
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Genomic context

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_000005.10 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
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?

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.
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).
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1630E (e-PCR)
- UniSTS:81038

BCD1181 (e-PCR)
- UniSTS:39081

D5S2470 (e-PCR)
- UniSTS:50874

GDB:1317910 (e-PCR)
- UniSTS:73164

SGC30694 (e-PCR)
- UniSTS:65255

AFMA053ZG9 (e-PCR)
- UniSTS:40947

RH104225 (e-PCR)
- UniSTS:98550

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)

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
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
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

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