SGSM1 - small G protein signaling modulator 1 Gene

Homo sapiens

Also known as RUTBC2

Gene ID: 129049 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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