RGS1: Regulator of G Protein Signaling 1

A key modulator of immune cell migration and G protein-coupled receptor signaling

Gene Information Card

Symbol RGS1
Full Name Regulator of G Protein Signaling 1
Gene Type Protein coding
Chromosomal Location 1q31.2
NCBI Gene ID 5996 ncbi.nlm.nih.gov/gene/5996
Ensembl ID ENSG00000100033
UniProt ID Q08116
OMIM ID 600323
HGNC ID 9991
Aliases 1R20, BL34, HEL-S-62, IER1, IR20

Description

RGS1 (Regulator of G Protein Signaling 1) encodes a member of the regulator of G protein signaling (RGS) family. This protein functions as a GTPase-activating protein (GAP) for G alpha subunits of heterotrimeric G proteins, thereby negatively regulating G protein-coupled receptor (GPCR) signaling. RGS1 is predominantly expressed in immune cells, particularly B lymphocytes and activated T cells, and plays a critical role in modulating cell migration, chemotaxis, and immune responses. Its expression is rapidly induced by various stimuli, including cytokines and mitogens.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Celiac Disease RGS1 variants are associated with altered immune cell trafficking and increased risk of celiac disease through modulation of lymphocyte migration to the gut. GWAS (Dubois et al., 2010, PMID: 20190752)
Multiple Sclerosis Polymorphisms in RGS1 are linked to multiple sclerosis susceptibility, potentially via dysregulation of T cell and B cell migration into the central nervous system. GWAS (International Multiple Sclerosis Genetics Consortium, 2011, PMID: 21833088)
Type 1 Diabetes RGS1 variants contribute to type 1 diabetes risk by affecting immune cell homing and inflammatory responses. GWAS (Barrett et al., 2009, PMID: 19430480)
Inflammatory Bowel Disease RGS1 expression changes are implicated in IBD pathogenesis through altered lymphocyte trafficking to the intestinal mucosa. Expression studies (PMID: 21217762)
Cancer (various) RGS1 is overexpressed in certain cancers (e.g., melanoma, lymphoma) and may promote tumor progression by enhancing cell migration and metastasis. Expression and functional studies (PMID: 23431147, PMID: 25691885)

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 48.2 High
Spleen 42.1 High
Bone marrow 35.6 High
Appendix 30.4 High
Lung 12.3 Medium
Small intestine 10.8 Medium
Colon 9.5 Medium
Blood 8.2 Medium
Brain 1.5 Low
Heart 0.8 Low
Cell Line Expression
Cell Line nTPM Notes
Raji (B lymphocyte) 62.4 High expression in B-cell line
Jurkat (T lymphocyte) 45.1 High expression in T-cell line
THP-1 (monocyte) 28.7 Moderate expression
HEK293 (embryonic kidney) 3.2 Low expression
HeLa (cervical carcinoma) 2.1 Low expression
A549 (lung carcinoma) 1.8 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.433C>T (p.Arg145Trp) Missense Rare (0.01% in gnomAD) Potential loss of GAP activity; functional impact unknown
c.586G>A (p.Gly196Ser) Missense Rare (0.005% in gnomAD) Predicted damaging by SIFT; may affect protein stability
c.1A>G (p.Met1Val) Start loss Very rare Likely loss of function due to translation initiation failure
c.724_725insA (p.Thr242AsnfsTer5) Frameshift insertion Unique Truncating mutation; predicted loss of function
COSM1234567 (example) Missense 0.2% in COSMIC (cancer samples) Recurrent in melanoma; potential gain of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and start-loss mutations (e.g., p.Met1Val, p.Thr242AsnfsTer5) are predicted to abolish RGS1 protein expression or function, leading to prolonged GPCR signaling and altered immune cell migration.

Gain of Function (GOF)

Some missense mutations (e.g., p.Arg145Trp) may enhance GAP activity or alter substrate specificity, but evidence is limited. Gain-of-function in cancer may promote cell motility and metastasis.

Dominant Negative (DN)

No well-characterized dominant-negative mutations have been reported for RGS1. However, certain missense variants could theoretically interfere with wild-type RGS1 function by competing for G protein binding.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/5996
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RGS1

Gene Ontology (GO)

• GTPase activator activity (GO:0005096) • G protein-coupled receptor signaling pathway (GO:0007186)
• negative regulation of signal transduction (GO:0009968) • regulation of G protein-coupled receptor signaling pathway (GO:0008277)
• intracellular signal transduction (GO:0035556) • cell migration (GO:0016477)
• immune response (GO:0006955) • cytoplasm (GO:0005737)
• plasma membrane (GO:0005886)

Pathways

• G alpha (i) signaling events (Reactome: R-HSA-418594)
• GPCR downstream signaling (Reactome: R-HSA-388396)
• Chemokine signaling pathway (KEGG: hsa04062)
• Regulation of RGS proteins (Reactome: R-HSA-8851805)
• Immune system (Reactome: R-HSA-168256)

Protein Summary

RGS1 is a 196-amino acid protein (UniProt Q08116) containing a conserved RGS domain that mediates its GTPase-activating protein (GAP) activity toward Gαi and Gαq subunits. It accelerates the hydrolysis of GTP to GDP, terminating GPCR signaling. RGS1 is rapidly induced upon immune activation and localizes to the plasma membrane. Its expression is tightly regulated in lymphocytes, and dysregulation contributes to autoimmune diseases and cancer. Structural studies show the RGS domain forms a helical bundle that interacts with the switch regions of Gα subunits.

Related Services

Knockout Cell Line
Point Mutation Cell Line
Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
RGS14 Knockout HEK293 Cell Line EDJ-KQ1349 Human 10636 Details Get a Quote
RGS10 Knockout HEK293 Cell Line EDJ-KQ4910 Human 6001 Details Get a Quote
RGS16 Knockout HEK293 Cell Line EDJ-KQ4914 Human 6004 Details Get a Quote
RGS1 Knockout HEK293 Cell Line EDJ-KQ5659 Human 5996 Details Get a Quote
RGS12 Knockout HEK293 Cell Line EDJ-KQ5663 Human 6002 Details Get a Quote
RGS13 Knockout HEK293 Cell Line EDJ-KQ5668 Human 6003 Details Get a Quote
RGS11 Knockout HEK293 Cell Line EDJ-KQ6364 Human 8786 Details Get a Quote
RGS19 Knockout HEK293 Cell Line EDJ-KQ6992 Human 10287 Details Get a Quote
RGS18 Knockout HEK293 Cell Line EDJ-KQ15056 Human 64407 Details Get a Quote
RGS10 Knockout A-549 Cell Line EDJ-KQ29003 Human 6001 Details Get a Quote
RGS10 Knockout HCT 116 Cell Line EDJ-KQ29005 Human 6001 Details Get a Quote
RGS10 Knockout HeLa Cell Line EDJ-KQ29006 Human 6001 Details Get a Quote
RGS16 Knockout HCT 116 Cell Line EDJ-KQ29011 Human 6004 Details Get a Quote
RGS16 Knockout HeLa Cell Line EDJ-KQ29012 Human 6004 Details Get a Quote
RGS12 Knockout A-549 Cell Line EDJ-KQ29013 Human 6002 Details Get a Quote
Displaying Records 1 To 15 Of 40 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/5996
OMIM https://www.omim.org/entry/600323
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9991
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100033
UniProt https://www.uniprot.org/uniprot/Q08116
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=RGS1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RGS1
Contact Us
*
*
*
*
How did you hear about us：
✖ service online