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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GPSM1 Gene

protein-coding   GIFtS: 54
GCID: GC09P139221

G-Protein Signaling Modulator 1

(Previous names: G-protein signalling modulator 1 (AGS3-like, C. elegans))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
G-Protein Signaling Modulator 11 2
G-Protein Signalling Modulator 1 (AGS3-Like, C. Elegans)1 2
Activator Of G-Protein Signaling 32 3
AGS32 3
AGS3 Homolog (C. Elegans)1
G-Protein-Signaling Modulator 12

External Ids:    HGNC: 178581   Entrez Gene: 260862   Ensembl: ENSG000001603607   OMIM: 6094915   UniProtKB: Q86YR53   

Export aliases for GPSM1 gene to outside databases

Previous GC identifers: GC09P134606 GC09P136497 GC09P138348 GC09P108682


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GPSM1 Gene:
G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein
subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several
factors that influence the basal activity of G-protein signaling systems. The protein contains seven
tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal
half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for GPSM1 Gene: 
GPSM1 (G-protein signaling modulator 1) is a protein-coding gene. Diseases associated with GPSM1 include aicardi-goutieres syndrome, and periodontitis, and among its related super-pathways are Amphetamine addiction. GO annotations related to this gene include GDP-dissociation inhibitor activity. An important paralog of this gene is TTC28.

UniProtKB/Swiss-Prot: GPSM1_HUMAN, Q86YR5
Function: Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of
heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling
heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric
cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play
a role in drug addiction

Gene Wiki entry for GPSM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_024000.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GPSM1 gene promoter:
         SREBP-1c   CUTL1   SREBP-1b   Max   SREBP-1a   HSF2   NF-kappaB1   LyF-1   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPSM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPSM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPSM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

GPSM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPSM1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P139221:  view genomic region     (about GC identifiers)

Start:
139,221,932 bp from pter      End:
139,254,057 bp from pter
Size:
32,126 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NW_003315927 18,381-49,281     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GPSM1_HUMAN, Q86YR5 (See protein sequence)
Recommended Name: G-protein-signaling modulator 1  
Size: 675 amino acids; 74510 Da
Subunit: Interacts with GNAI1, GNAI2 and GNAI3 preferentially in their GDP-bound state. May also interact with
GNAO1. Interacts with STK11/LKB1 and MACF1 (By similarity). Interacts with INSC/inscuteable and FRMPD1
Subcellular location: Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic
side. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane
protein; Cytoplasmic side
Sequence caution: Sequence=AAH09979.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH17353.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB55951.1;
Type=Frameshift; Positions=657; Sequence=CAI19339.1; Type=Erroneous gene model prediction;
Secondary accessions: A9Z1X4 B1B0W3 Q86SR5 Q969T1 Q9UFS8
Alternative splicing: 4 isoforms:  Q86YR5-1   Q86YR5-2   Q86YR5-3   Q86YR5-4   (Major isoform)

Explore the universe of human proteins at neXtProt for GPSM1: NX_Q86YR5

Explore proteomics data for GPSM1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation regulates interaction with G(i/o) alpha (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86YR5

  • GPSM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPSM1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001139110.2  NP_001139111.1  NP_001186932.1  NP_056412.5  

    ENSEMBL proteins: 
     ENSP00000376674   ENSP00000346797   ENSP00000376673   ENSP00000291775   ENSP00000392828  
     ENSP00000390705  

    Human Recombinant Protein Products for GPSM1: 
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    Novus Biologicals GPSM1 Proteins
    Novus Biologicals GPSM1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GPSM1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA--

    GPSM1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for GPSM1 

    Assay Products for GPSM1: 
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    Cloud-Clone Corp. ELISAs for GPSM1 
    Cloud-Clone Corp. CLIAs for GPSM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR003109 GoLoco_motif
     IPR001440 TPR-1
     IPR024804 G_prot_signal_mod_1
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q86YR5

    ProtoNet protein and cluster: Q86YR5

    UniProtKB/Swiss-Prot: GPSM1_HUMAN, Q86YR5
    Domain: The GoLoco domains mediate interaction with G(i/o) alpha (By similarity). The GoLoco domains are essential
    for the GDI activity toward G(i/o) alpha
    Similarity: Belongs to the GPSM family
    Similarity: Contains 4 GoLoco domains
    Similarity: Contains 9 TPR repeats


    GPSM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GPSM1_HUMAN, Q86YR5
    Function: Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of
    heterotrimeric G-protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling
    heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric
    cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play
    a role in drug addiction

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005092GDP-dissociation inhibitor activity IEA--
    GO:0005515protein binding ----
    GO:0030695GTPase regulator activity ----
         
    GPSM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GPSM1:
     Decreased melanin production 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gpsm1):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism 
     muscle  nervous system  no phenotypic analysis  renal/urinary system 

    GPSM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gpsm1tm1.1Lajb for GPSM1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPSM1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GPSM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPSM1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GPSM1 

    miRNA
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    hsa-miR-181c hsa-miR-130a* hsa-miR-3065-3p hsa-miR-181a hsa-miR-23c hsa-miR-181d hsa-miR-1297 hsa-miR-23b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPSM1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GPSM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Amphetamine addiction
    Cocaine addiction0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for GPSM1):
        Cocaine addiction


    GPSM1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GPSM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/14 Interacting proteins for GPSM1 (Q86YR52, 3 ENSP000003928284) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZBED1O960062, 3, ENSP000003706164MINT-67402 I2D: score=5 STRING: ENSP00000370616
    CCDC158Q5M9N02, 3, ENSP000003735664MINT-66166 I2D: score=4 STRING: ENSP00000373566
    DAZAP2Q150382, 3, ENSP000004049684MINT-68318 I2D: score=4 STRING: ENSP00000404968
    TRIP13Q156452, 3, ENSP000001663454MINT-66636 I2D: score=5 STRING: ENSP00000166345
    USP9XQ930083, ENSP000003163574I2D: score=1 STRING: ENSP00000316357
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development IEA--
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway IEA--
    GO:0030154cell differentiation IEA--

    GPSM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GPSM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GPSM1

    3 HMDB Compounds for GPSM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for GPSM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanosine 5'-o-(3-thiotriphosphate) 56.9 1 10969064 (1)
    gdp 41.3 3 11121039 (3)
    gtp 39.7 2 11121039 (1), 14530282 (1)
    guanine 34.4 1 11121039 (1)

    Search CenterWatch for drugs/clinical trials and news about GPSM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GPSM1 gene (4 alternative transcripts): 
    NM_001145638.2  NM_001145639.1  NM_001200003.1  NM_015597.5  

    Unigene Cluster for GPSM1:

    G-protein signaling modulator 1
    Hs.239370  [show with all ESTs]
    Unigene Representative Sequence: NM_001145638
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392945(uc004chc.3) ENST00000354753 ENST00000392944 ENST00000291775(uc004che.2)
    ENST00000440944(uc004chd.2) ENST00000429455(uc011mdu.1 uc022bpn.1)

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate GPSM1 (see all 14):
    hsa-miR-181c hsa-miR-130a* hsa-miR-3065-3p hsa-miR-181a hsa-miR-23c hsa-miR-181d hsa-miR-1297 hsa-miR-23b
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    Additional mRNA sequence: 

    AL117478.1 AY173053.1 BC009943.2 BC009979.1 BC017257.2 BC017353.1 BC048343.1 

    11 DOTS entries:

    DT.112195  DT.75107553  DT.95154432  DT.100715502  DT.95271079  DT.95271082  DT.100028755  DT.100659536 
    DT.92433935  DT.95271075  DT.97798297 

    24/152 AceView cDNA sequences (see all 152):

    AI276542 BX327850 CR603710 CN482348 BG056767 BM720048 BQ129314 AY173053 
    AL043358 AA479910 BQ878339 NM_015597 AA720922 BM451234 BM967301 AI198064 
    BC017257 AL545250 BU687722 D31442 BG390643 BU732761 BU624490 AL570211 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GPSM1 expression in normal human tissues (normalized intensities)      GPSM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCAATGG
    GPSM1 Expression
    About this image


    GPSM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See GPSM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPSM1

    SOURCE GeneReport for Unigene cluster: Hs.239370

    UniProtKB/Swiss-Prot: GPSM1_HUMAN, Q86YR5
    Tissue specificity: Expressed in intestinal cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPSM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GPSM1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpsm11 , 5 G-protein signalling modulator 1 (AGS3-like, C. elegans)1, 5 85.91(n)1
    92.56(a)1
      2 (18.73 cM)5
    678391  NM_153410.51  NP_700459.21 
     263155155 
    chicken
    (Gallus gallus)
    Aves GPSM11 G-protein signaling modulator 1 73.17(n)
    77.73(a)
      417132  XM_415415.3  XP_415415.3 
    lizard
    (Anolis carolinensis)
    Reptilia GPSM16
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL344810.1(10201-18795)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.82442 Xenopus laevis transcribed sequence with weak similarity more 76.94(n)    BJ069879.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gpsm1b1 G-protein signaling modulator 1b 70.11(n)
    71.59(a)
      493623  NM_001007778.1  NP_001007779.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG431636
    raps6
    rapsynoid
    5(a)
    46(a)
    possible ortholog
    many → 1
    3L(8465907-8500246)
    3R(23408562-23412098)
    worm
    (Caenorhabditis elegans)
    Secernentea ags-36
    Protein AGS-3, isoform a
    30(a)
    1 → many
    X(5289728-5298040)


    ENSEMBL Gene Tree for GPSM1 (if available)
    TreeFam Gene Tree for GPSM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPSM1 gene
    TTC282  GPSM22  
    2 SIMAP similar genes for GPSM1 using alignment to 1 protein entry:     GPSM1_HUMAN:
    GPSM2    PCP2

    GPSM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1009 SNPs in GPSM1 are shown (see all 1009)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs784220681,2
    C--108685234(+) TGAGCT/CCCCCC 2 -- int12Minor allele frequency- C:0.33NA CSA 3
    rs40750841,2
    --108685235(+) GAGCCC/GCCCCC 2 -- int1 tfbs3 trp30--------
    rs1130365661,2
    C--108705948(+) CACCAA/GTACTG 2 -- int1 us2k10--------
    rs284484051,2
    C--108705952(+) AATACG/TGCGCC 2 -- int1 us2k11Minor allele frequency- T:0.50CSA 2
    rs286895041,2
    F--108708869(+) GTGCCG/AAGGGT 3 -- int12Minor allele frequency- A:0.18NA EA 122
    rs559120001,2
    C,F--108708883(+) GACACA/GTCCTG 3 -- int13Minor allele frequency- G:0.30NA EA 124
    rs1834299291,2
    --108708890(+) CCTGGA/GAGAGG 3 -- int10--------
    rs563624601,2
    C,F--108708891(+) CTGGGG/AGAGGG 3 -- int16Minor allele frequency- A:0.49NA WA EA 364
    rs714921201,2
    C--108708912(+) AGGGTG/-GGTGA 3 -- int11Minor allele frequency- -:0.50NA 2
    rs585364751,2
    C--108708917(+) GGGTGG/-GTGAC 3 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for GPSM1 (139221932 - 139254057 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/26 variations for GPSM1 (see all 26):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739355CNV Deletion23290073
    esv2739357CNV Deletion23290073
    esv2739358CNV Deletion23290073
    esv1008862CNV Deletion20482838
    esv2656654CNV Deletion23128226
    esv2739356CNV Deletion23290073
    nsv509333CNV Insertion20534489
    dgv8393n71CNV Loss21882294
    nsv894360CNV Loss21882294
    nsv894294CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609491    OMIM disorders: --

    6 diseases for GPSM1:    About MalaCards
    aicardi-goutieres syndrome    periodontitis    hepatitis b    cerebritis
    colon cancer    hepatitis


    GPSM1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GPSM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon cancer 19.6 1 15488168 (1)

    Human Genome Epidemiology (HuGE) Navigator: GPSM1 (1 document)

    Export disorders for GPSM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GPSM1 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with GPSM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The G-protein regulator AGS3 controls an early event during macroautophagy in human intestinal HT-29 cells. (PubMed id 12642577)1, 2, 9 Pattingre S.... Codogno P. (2003)
    2. Stabilization of the GDP-bound conformation of Gialpha by a peptide derived from the G-protein regulatory motif of AGS3. (PubMed id 10969064)1, 3, 9 Peterson Y.K....Lanier S.M. (2000)
    3. Identification of a truncated form of the G-protein regulator AGS3 in heart that lacks the tetratricopeptide repeat domains. (PubMed id 11278352)1, 3, 9 Pizzinat N....Lanier S.M. (2001)
    4. The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. (PubMed id 18566450)1, 2 An N....Lanier S.M. (2008)
    5. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. (PubMed id 16458856)1, 2 Izaki T.... Sumimoto H. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. AGS3 inhibits GDP dissociation from galpha subunits of the Gi family and rhodopsin-dependent activation of transducin. (PubMed id 11024022)1, 2 Natochin M....Artemyev N.O. (2000)
    8. Distribution of activator of G-protein signaling 3 wi thin the aggresomal pathway: role of specific residues in the tetratricopeptide repeat domain and differential regulation by the AGS3 binding partners Gi(alph a) and mammalian inscuteable. (PubMed id 20065032)1, 9 Vural A....Lanier S.M. (2010)
    9. A specific role of AGS3 in the surface expression of plasma membrane proteins. (PubMed id 17991770)1, 9 Groves B....Ma D. (2007)
    10. An inhibitory role of the G-protein regulator AGS3 in mTOR-dependent macroautophagy. (PubMed id 20126274)1, 9 Groves B....Ma D. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26086 HGNC: 17858 AceView: GPSM1 Ensembl:ENSG00000160360 euGenes: HUgn26086
    ECgene: GPSM1 Kegg: 26086 H-InvDB: GPSM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GPSM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GPSM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GPSM1 gene:
    Search GeneIP for patents involving GPSM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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