Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SGSM1 Gene

Aliases for SGSM1 Gene

  • Small G Protein Signaling Modulator 1 2 3 5
  • RUN And TBC1 Domain-Containing Protein 2 3 4
  • RUN And TBC1 Domain Containing 2 2 3
  • RUTBC2 3 4
  • Small G Protein Signaling Modulator 1 Protein 3
  • KIAA1941 4

External Ids for SGSM1 Gene

Previous HGNC Symbols for SGSM1 Gene

  • RUTBC2

Previous GeneCards Identifiers for SGSM1 Gene

  • GC22P023532
  • GC22P025202
  • GC22P008151

Summaries for SGSM1 Gene

GeneCards Summary for SGSM1 Gene

SGSM1 (Small G Protein Signaling Modulator 1) is a Protein Coding gene. An important paralog of this gene is SGSM2.

UniProtKB/Swiss-Prot for SGSM1 Gene

  • Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B.

Additional gene information for SGSM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSM1 Gene

Genomics for SGSM1 Gene

Regulatory Elements for SGSM1 Gene

Enhancers for SGSM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H024548 2 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -252.7 -252708 8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A SPECC1L ENSG00000272973 ZNF70 SGSM1 UPB1 ADORA2A LOC100421614 ARL5AP4 CRIP1P4 RPS10P29
GH22H024242 1.6 FANTOM5 Ensembl ENCODE 12.3 -560.9 -560941 6 HDGF ARNT ZNF493 ZFP64 ARID4B SIN3A GLI4 ZBTB7B ZNF207 ZNF143 ENSG00000272578 ZNF70 SPECC1L POM121L9P ENSG00000232545 ENSG00000272973 SNRPD3 MIF-AS1 RN7SL268P SUSD2
GH22H024010 1.4 ENCODE dbSUPER 12.3 -794.5 -794527 2 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 FOS ENSG00000272973 ZDHHC8P1 ZNF70 SPECC1L MIF-AS1 SNRPD3 SUSD2 RN7SL268P GNAZ ENSG00000272578
GH22H024805 1 ENCODE 15.5 +0.4 372 1 HDGF PKNOX1 ATF1 ARNT ZNF121 GLIS2 ZNF143 ATF7 SP3 ZNF610 SGSM1 SPECC1L ENSG00000232545 PIR59021
GH22H023892 1.4 ENCODE dbSUPER 9.7 -911.0 -910980 4 HDGF ARID4B SIN3A ZNF2 ZNF416 ZNF143 ZNF207 PAF1 SP3 SP5 DRICH1 MIF-AS1 ENSG00000273295 ENSG00000272578 ENSG00000272973 SLC2A11 GSTT2B ZDHHC8P1 POM121L9P SMARCB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGSM1 on UCSC Golden Path with GeneCards custom track

Promoters for SGSM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000144452 132 1000 HDGF PKNOX1 ATF1 ARNT ZNF121 GLIS2 ZNF143 ATF7 SP3 ZNF610

Genomic Location for SGSM1 Gene

Chromosome:
22
Start:
24,806,169 bp from pter
End:
24,927,578 bp from pter
Size:
121,410 bases
Orientation:
Plus strand

Genomic View for SGSM1 Gene

Genes around SGSM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGSM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGSM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGSM1 Gene

Proteins for SGSM1 Gene

  • Protein details for SGSM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2NKQ1-SGSM1_HUMAN
    Recommended name:
    Small G protein signaling modulator 1
    Protein Accession:
    Q2NKQ1
    Secondary Accessions:
    • A5LGW1
    • A8MUT4
    • B0QYW0
    • B0QYW1
    • B5MEG1
    • B9A6J4
    • Q5TFL3
    • Q8TF60

    Protein attributes for SGSM1 Gene

    Size:
    1148 amino acids
    Molecular mass:
    129718 Da
    Quaternary structure:
    • Interacts with RAB9A (GTP-bound form) and RAB9B (GTP-bound form); has much lower affinity for GDP-bound RAB9A and RAB9B (PubMed:22637480). Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819).
    SequenceCaution:
    • Sequence=BAB85527.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SGSM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGSM1 Gene

Post-translational modifications for SGSM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SGSM1 Gene

No data available for DME Specific Peptides for SGSM1 Gene

Domains & Families for SGSM1 Gene

Gene Families for SGSM1 Gene

Protein Domains for SGSM1 Gene

Suggested Antigen Peptide Sequences for SGSM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2NKQ1

UniProtKB/Swiss-Prot:

SGSM1_HUMAN :
  • Belongs to the RUTBC family.
Family:
  • Belongs to the RUTBC family.
genes like me logo Genes that share domains with SGSM1: view

Function for SGSM1 Gene

Molecular function for SGSM1 Gene

UniProtKB/Swiss-Prot Function:
Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B.

Phenotypes From GWAS Catalog for SGSM1 Gene

Gene Ontology (GO) - Molecular Function for SGSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 22637480
GO:0017137 Rab GTPase binding IPI 22637480
genes like me logo Genes that share ontologies with SGSM1: view
genes like me logo Genes that share phenotypes with SGSM1: view

Animal Models for SGSM1 Gene

MGI Knock Outs for SGSM1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGSM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SGSM1 Gene

Localization for SGSM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSM1 Gene

Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cytoplasm. Note=Recruited to cytoplasmic vesicle membranes via its interaction with Rab family members, such as RAB9A. {ECO:0000269 PubMed:22637480}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGSM1 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1

Gene Ontology (GO) - Cellular Components for SGSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA 22637480
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SGSM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SGSM1 Gene

Pathways & Interactions for SGSM1 Gene

SuperPathways for SGSM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with SGSM1: view

No data available for Pathways by source and SIGNOR curated interactions for SGSM1 Gene

Drugs & Compounds for SGSM1 Gene

No Compound Related Data Available

Transcripts for SGSM1 Gene

Unigene Clusters for SGSM1 Gene

Small G protein signaling modulator 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGSM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SGSM1 Gene

No ASD Table

Relevant External Links for SGSM1 Gene

GeneLoc Exon Structure for
SGSM1
ECgene alternative splicing isoforms for
SGSM1

Expression for SGSM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SGSM1 Gene

mRNA differential expression in normal tissues according to GTEx for SGSM1 Gene

This gene is overexpressed in Brain - Hypothalamus (x4.5).

Protein differential expression in normal tissues from HIPED for SGSM1 Gene

This gene is overexpressed in Frontal cortex (46.4), Pancreas (7.6), and Fetal Brain (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SGSM1 Gene



Protein tissue co-expression partners for SGSM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGSM1 Gene:

SGSM1

SOURCE GeneReport for Unigene cluster for SGSM1 Gene:

Hs.474397

mRNA Expression by UniProt/SwissProt for SGSM1 Gene:

Q2NKQ1-SGSM1_HUMAN
Tissue specificity: Mainly expressed in brain, heart and testis.

Evidence on tissue expression from TISSUES for SGSM1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SGSM1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SGSM1 Gene

Orthologs for SGSM1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SGSM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGSM1 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia SGSM1 33 34
  • 90.8 (n)
cow
(Bos Taurus)
Mammalia SGSM1 33 34
  • 90.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SGSM1 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgsm1 33
  • 86.94 (n)
mouse
(Mus musculus)
Mammalia Sgsm1 33 16 34
  • 86.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGSM1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 91 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
SGSM1 33
  • 76.78 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii SGSM1 (1 of 2) 34
  • 76 (a)
OneToMany
sgsm1 33
  • 73.41 (n)
SGSM1 (2 of 2) 34
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32506 33
  • 65.66 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003198 33
  • 58.25 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-8 33 34
  • 48.47 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4794 34
  • 42 (a)
OneToOne
Species where no ortholog for SGSM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SGSM1 Gene

ENSEMBL:
Gene Tree for SGSM1 (if available)
TreeFam:
Gene Tree for SGSM1 (if available)

Paralogs for SGSM1 Gene

Paralogs for SGSM1 Gene

(4) SIMAP similar genes for SGSM1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SGSM1 Gene

genes like me logo Genes that share paralogs with SGSM1: view

Variants for SGSM1 Gene

Sequence variations from dbSNP and Humsavar for SGSM1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000030597 -- 24,875,331(+) AAAAT(G/T)ATATG intron-variant
rs1000038528 -- 24,900,800(+) TTATG(C/G)CAACC intron-variant
rs1000110273 -- 24,917,145(+) GCCTT(A/G)GCCTC intron-variant
rs1000126232 -- 24,806,086(+) CGGGA(A/G)GGAGC upstream-variant-2KB
rs1000127392 -- 24,890,780(+) TTTGT(A/G)ATCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGSM1 Gene

Variant ID Type Subtype PubMed ID
esv25685 CNV loss 19812545
esv2670598 CNV deletion 23128226
esv2724070 CNV deletion 23290073
esv2724071 CNV deletion 23290073
esv3557991 CNV deletion 23714750
esv3647443 CNV loss 21293372
esv3647444 CNV loss 21293372
esv3647445 CNV gain 21293372
nsv1056865 CNV gain 25217958
nsv1065877 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv1116949 CNV deletion 24896259
nsv1136663 CNV deletion 24896259
nsv475527 CNV novel sequence insertion 20440878
nsv588745 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv819966 CNV gain 19587683
nsv834161 CNV gain 17160897

Variation tolerance for SGSM1 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGSM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGSM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGSM1 Gene

Disorders for SGSM1 Gene

Relevant External Links for SGSM1

Genetic Association Database (GAD)
SGSM1
Human Genome Epidemiology (HuGE) Navigator
SGSM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGSM1

No disorders were found for SGSM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SGSM1 Gene

Publications for SGSM1 Gene

  1. RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. (PMID: 22637480) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2012) 2 3 4 60
  2. Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. (PMID: 17509819) Yang H … Shimizu N (Genomics 2007) 2 3 4 60
  3. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for SGSM1 Gene

Sources for SGSM1 Gene

Content
Loading form....