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Aliases for SGSM1 Gene

Aliases for SGSM1 Gene

  • Small G Protein Signaling Modulator 1 2 3
  • 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 Symbols for SGSM1 Gene

  • RUTBC2

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGSM1 Gene

Genomics for SGSM1 Gene

Genomic Location for SGSM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGSM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGSM1 Gene

Regulatory Elements 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 RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A.
    SequenceCaution:
    • Sequence=BAB85527.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SGSM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGSM1 Gene

Proteomics data for SGSM1 Gene at MOPED

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 for SGSM1 Gene

Gene Families for SGSM1 Gene

HGNC:
  • SGSM :Small G protein signaling modulators

Protein Domains for SGSM1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

SGSM1_HUMAN
Domain:
  • Contains 1 Rab-GAP TBC domain.:
    • Q2NKQ1
  • Contains 1 RUN domain.:
    • Q2NKQ1
Family:
  • Belongs to the RUTBC family.:
    • Q2NKQ1
genes like me logo Genes that share domains with SGSM1: view

Function for SGSM1 Gene

Gene Ontology (GO) - Molecular Function for SGSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SGSM1: view

miRNA for SGSM1 Gene

miRTarBase miRNAs that target SGSM1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SGSM1 Gene

Localization for SGSM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGSM1 Gene

Golgi apparatus, trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGSM1 Gene COMPARTMENTS Subcellular localization image for SGSM1 gene
Compartment Confidence
golgi apparatus 3
cytosol 2
endosome 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SGSM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with SGSM1: view

Pathways for SGSM1 Gene

SuperPathways for SGSM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGSM1 Gene

None

No data available for Pathways by source for SGSM1 Gene

Transcripts for SGSM1 Gene

Unigene Clusters for SGSM1 Gene

Small G protein signaling modulator 1:
Representative Sequences:

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 for SGSM1 Gene

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

This gene is overexpressed in Brain - Hypothalamus (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SGSM1 Gene

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.
genes like me logo Genes that share expressions with SGSM1: view

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 36
  • 99.48 (n)
  • 99.48 (a)
SGSM1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGSM1 36
  • 90.29 (n)
  • 94.07 (a)
SGSM1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGSM1 36
  • 90.8 (n)
  • 94.16 (a)
SGSM1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgsm1 36
  • 86.23 (n)
  • 93.68 (a)
Sgsm1 16
Sgsm1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGSM1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGSM1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgsm1 36
  • 86.94 (n)
  • 93.96 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 79 (a)
OneToMany
-- 37
  • 91 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
SGSM1 36
  • 76.78 (n)
  • 79.51 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii sgsm1 36
  • 73.41 (n)
  • 81.68 (a)
SGSM1 (1 of 2) 37
  • 76 (a)
OneToMany
SGSM1 (2 of 2) 37
  • 52 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003198 36
  • 58.25 (n)
  • 53.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32506 36
  • 65.66 (n)
  • 61.72 (a)
worm
(Caenorhabditis elegans)
Secernentea tbc-8 36
  • 48.47 (n)
  • 40.69 (a)
tbc-8 37
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 37
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4794 37
  • 42 (a)
OneToOne
Species with no ortholog for SGSM1:
  • 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

Selected 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 MAF
rs79597 -- 24,843,835(+) GAAGA(A/G)CACAC intron-variant
rs139617 -- 24,805,711(+) ccgcg(A/C)ccggc upstream-variant-2KB
rs139618 -- 24,806,244(+) gctgc(A/C)gcagc utr-variant-5-prime
rs139619 -- 24,806,721(+) GGATG(C/T)AGCGT intron-variant
rs139620 -- 24,807,321(+) AATGT(-/C)TGTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724070 CNV Deletion 23290073
esv25685 CNV Loss 19812545
nsv834161 CNV Gain 17160897
esv2724071 CNV Deletion 23290073
esv2670598 CNV Deletion 23128226
nsv819966 CNV Gain 19587683

Relevant External Links for SGSM1 Gene

HapMap Linkage Disequilibrium report
SGSM1

Disorders for SGSM1 Gene

Relevant External Links for SGSM1

Genetic Association Database (GAD)
SGSM1
Human Genome Epidemiology (HuGE) Navigator
SGSM1
genes like me logo Genes that share disorders with SGSM1: view

No data available for UniProtKB/Swiss-Prot for SGSM1 Gene

Publications for SGSM1 Gene

  1. 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 Res. 2001) 2 3 4
  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
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  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 S.D. … Anand S. (Diabetes Care 2010) 3 49

Products for SGSM1 Gene

Sources for SGSM1 Gene

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