RGS1

regulator of G protein signaling 1, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:192575762-192580024

Previous symbols: [ "IER1" ]

Links

ENSG00000090104 ∙ NCBI:5996 ∙ OMIM:600323 ∙ HGNC:9991 ∙ Uniprot:Q08116 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS1 gene.

• Inborn genetic diseases (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in RGS1

This is a list of pathogenic ClinVar variants found in the RGS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-192575896-A-G		not specified	Uncertain significance (Aug 12, 2021)
1-192575898-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-192575917-G-A		not specified	Uncertain significance (Feb 07, 2023)
1-192576347-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-192578225-G-A		not specified	Uncertain significance (May 24, 2023)
1-192578225-G-T		not specified	Uncertain significance (Nov 29, 2023)
1-192578269-G-A		not specified	Uncertain significance (Jun 28, 2023)
1-192578280-G-C		not specified	Uncertain significance (Jun 21, 2023)
1-192578317-T-A		not specified	Uncertain significance (May 08, 2023)
1-192579158-C-G		not specified	Uncertain significance (Feb 07, 2023)
1-192579159-G-A		not specified	Uncertain significance (Aug 04, 2021)
1-192579267-A-G		not specified	Uncertain significance (Jan 18, 2023)
1-192579309-A-G		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS1	protein_coding	protein_coding	ENST00000367459	5	4305

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.782	0.217	125596	0	7	125603	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.128	106	110	0.966	0.00000528	1385
Missense in Polyphen		36	36.004	0.99988		471
Synonymous	0.635	32	36.9	0.867	0.00000184	377
Loss of Function	2.54	1	9.39	0.107	4.58e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000528
Middle Eastern	0.0000545	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors (PubMed:10480894). Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form (PubMed:10480894, PubMed:18434541). {ECO:0000250|UniProtKB:Q9JL25, ECO:0000269|PubMed:10480894, ECO:0000269|PubMed:18434541}.
• Pathway: Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;Myometrial Relaxation and Contraction Pathways;TYROBP Causal Network;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;CXCR4-mediated signaling events;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.215

Intolerance Scores

• loftool: 0.490
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.796
• hipred: Y
• hipred_score: 0.520
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.763

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rgs1
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: immune response;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;regulation of G protein-coupled receptor signaling pathway;response to bacterium;negative regulation of signal transduction;positive regulation of GTPase activity;leukotriene signaling pathway
• Cellular component: cytosol;plasma membrane;extrinsic component of cytoplasmic side of plasma membrane
• Molecular function: G-protein alpha-subunit binding;GTPase activator activity;calmodulin binding