SGSM1 - small G protein signaling modulator 1 Gene

Also Known as RUTBC2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 129049

About SGSM1

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,806,211-24,927,578 (from NCBI)

This gene has 6 transcripts (splice variants), 275 orthologues and 45 paralogues. Broad expression in brain (RPKM 6.6), heart (RPKM 5.6) and 15 other tissues.

Summary

Enables GTPase activator activity and small GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SGSM1 Products (4)

mRNA	Protein	Name
NM_001039948.4	NP_001035037.1	small G protein signaling modulator 1 isoform 1
NM_001098497.3	NP_001091967.1	small G protein signaling modulator 1 isoform 3
NM_001098498.3	NP_001091968.1	small G protein signaling modulator 1 isoform 4
NM_133454.4	NP_597711.1	small G protein signaling modulator 1 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	22637480	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22637480	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasmic vesicle membrane	IDA IDA: Inferred from direct assay	22637480	GOA
located in cytosol	IDA IDA: Inferred from direct assay	22637480	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGSM1 Protein Structure

RUN

RabGAP-TBC

0
200
400
600
800
1000
1148 a.a.

Protein Preferred Names	Protein Names
small G protein signaling modulator 1	RUN and TBC1 domain containing 2

SGSM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SGSM1	Q2NKQ1	CETN1	Homo sapiens	Q12798	Anti Tag CoIP	33961781
Intra	SGSM1	Q2NKQ1	CETN1	Homo sapiens	Q12798	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

SGSM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82201	SGSM1 Antibody (YA1946)	WB, ICC/IF	Human
HY-P82201A	SGSM1 Antibody (YA1946)(PBS only)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Autosomal Dominant Adult-Onset Proximal Sma Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type Finkel Disease Smafk Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant Autosomal Dominant Adult Proximal Spinal Muscular Atrophy Finkel Late-Adult Type Sma
Pontocerebellar Hypoplasia, Type 1a	Pontocerebellar Hypoplasia Type 1a PCH1A Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pch1 Pontocerebellar Hypoplasia 1a Hypoplasia, Pontocerebellar, Type 1a Pontocerebellar Hypoplasia Type 1
Enterobiasis	Oxyuriasis Pinworm Infection Enterobius Vermicularis Infection Threadworm Infection Oxyuris Vermicularis Infection Enterobiosis Pinworm Pinworm Disease Seatworm Infection Enterobiasis Threadworm Pinworm Infestation Seatworm
Spinal Muscular Atrophy With Lower Extremity Predominant	Spinal Muscular Atrophy With Lower Extremity Predominance Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures Kugelberg-Welander Syndrome, Autosomal Dominant Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures Sma-Led Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12813	SGSM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SGSM1	VGNC	VGNC:46105
Mus musculus	SGSM1	MGD	MGI:107320
Rattus norvegicus	SGSM1	RGD	RGD:1308178
Felis catus	SGSM1	VGNC	VGNC:80487
Macaca mulatta	SGSM1	VGNC	VGNC:77336
Bos taurus	SGSM1	VGNC	VGNC:34550
Others	SGSM1	NCBI