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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SGSM1
small G protein signaling modulator 1
Chromosome 22 · 22q11.23
NCBI Gene: 129049Ensembl: ENSG00000167037.19HGNC: HGNC:29410UniProt: A0A087X241
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic vesicle membraneprotein bindingsmall GTPase bindingGTPase activator activityneurodegenerative diseasetype 2 diabetes mellitusHeadacheexostosis
✦AI Summary

SGSM1 (small G protein signaling modulator 1) is a RUN and TBC domain-containing protein that functions as a modulator of Rab and Rap small GTPase-mediated signaling. SGSM1 acts as both a GTPase-activating protein for RAB34 and RAB36, and as an effector protein for RAB9A and RAB9B, localizing to the trans-Golgi network and cytoplasm where it regulates vesicular transport and neuronal signaling 1. The protein is primarily expressed in brain, heart, and testis tissues 1. Disease relevance spans multiple cancer types. In nasopharyngeal carcinoma, SGSM1 degradation via the SHISA3-TRIM21 axis promotes cell invasion and metastasis through MAPK pathway activation 2. In lower-grade gliomas, low SGSM1 expression independently predicts poor overall survival and correlates with reduced immune infiltration 3. Pan-cancer analysis reveals SGSM1 downregulation across multiple malignancies (HNSC, COAD, BRCA, KIRP, KIRC, MESO, PAAD, UCEC), with prognostic significance particularly in renal and pancreatic cancers 45. SGSM1 is implicated in the tumor immune microenvironment and represents a potential therapeutic target. Additionally, SGSM1 has been identified as a hub gene in amyotrophic lateral sclerosis and depression 6, and is a candidate schwannomatosis-predisposing gene 7.

Sources cited
1
SGSM1 contains RUN and TBC motifs, interacts with RAP and RAB proteins, localizes to trans-Golgi network, primarily expressed in brain/heart/testis
PMID: 17509819
2
SGSM1 degradation via SHISA3-TRIM21 axis promotes nasopharyngeal carcinoma cell invasion and metastasis through MAPK pathway activation
PMID: 30573520
3
Low SGSM1 expression is an independent prognostic factor associated with poor survival in lower-grade gliomas and correlates with reduced immune infiltration
PMID: 35484511
4
SGSM1 is downregulated across multiple cancer types and correlates with poor prognosis in KIRC, LGG, MESO, PAAD, and UCEC; involved in immune microenvironment regulation
PMID: 40500484
5
SGSM1 is a liver metastasis-related hub gene in pancreatic ductal adenocarcinoma with prognostic value for survival and immunotherapy response
PMID: 37523607
6
SGSM1 identified as a hub gene associated with both amyotrophic lateral sclerosis and depression
PMID: 38013317
7
SGSM1 identified as a candidate schwannomatosis-predisposing gene on chromosome 22q
PMID: 34747535
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
HeadacheOpen Targets
0.31Weak
exostosisOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.24Weak
chronic laryngitisOpen Targets
0.24Weak
celiac diseaseOpen Targets
0.22Weak
placental retentionOpen Targets
0.22Weak
Abnormality of the genital systemOpen Targets
0.22Weak
congenital anomaly of cardiovascular systemOpen Targets
0.18Weak
cancerOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
22q11.2 deletion syndromeOpen Targets
0.05Suggestive
FTH1-related iron overloadOpen Targets
0.05Suggestive
hemochromatosis type 5Open Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB4AProtein interaction91%CETN1Protein interaction81%RAP1BProtein interaction76%RAP2AProtein interaction75%SGSM3Protein interaction75%RAB9AProtein interaction70%
Tissue Expression6 tissues
Heart
100%
Brain
92%
Ovary
28%
Bone Marrow
12%
Lung
11%
Liver
7%
Gene Interaction Network
Click a node to explore
SGSM1RAB4ACETN1RAP1BRAP2ASGSM3RAB9A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2NKQ1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.46–0.67]
RankingsWhere SGSM1 stands among ~20K protein-coding genes
  • #13,061of 20,598
    Most Researched25
  • #4,980of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedSGSM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypermethylation of
PMID: 30573520
Cancer Res · 2019
1.00
2
Prognostic biomarker SGSM1 and its correlation with immune infiltration in gliomas.
PMID: 35484511
BMC Cancer · 2022
0.90
3
Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.
PMID: 17509819
Genomics · 2007
0.80
4
Trivial role for NSMCE2 during
PMID: 28576919
Reproduction · 2017
0.70
5
Screening and identification of key biomarkers associated with amyotrophic lateral sclerosis and depression using bioinformatics.
PMID: 38013317
Medicine (Baltimore) · 2023
0.60