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GPS1 Gene

protein-coding   GIFtS: 54
GCID: GC17P080009

G Protein Pathway Suppressor 1

  Search for GPS1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
G Protein Pathway Suppressor 11 2 3     GPS-12 3
COP9 Signalosome Subunit 11 2     SGN12 3
Signalosome Subunit 12 3     JAB1-Containing Signalosome Subunit 12 3
COPS12 3     COP9 Signalosome Complex Subunit 12
CSN12 3     Protein MFH3

External Ids:    HGNC: 45491   Entrez Gene: 28732   Ensembl: ENSG000001697277   OMIM: 6019345   UniProtKB: Q130983   

Export aliases for GPS1 gene to outside databases

Previous GC identifers: GC17P079433 GC17P9J0051 GC17P080545 GC17P077603 GC17P075409


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GPS1 Gene:
This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded
protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal
transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GPS1 Gene:
GPS1 (G protein pathway suppressor 1) is a protein-coding gene. GO annotations related to this gene include GTPase inhibitor activity. An important paralog of this gene is PSMD6.

UniProtKB/Swiss-Prot: CSN1_HUMAN, Q13098
Function: Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and
developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by
mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl
ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation
of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD
kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system,
respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction

Gene Wiki entry for GPS1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010663.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GPS1 gene promoter:
         AP-1   ATF-2   STAT3   PPAR-gamma2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GPS1 promoter sequence
   Search Chromatin IP Primers for GPS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GPS1


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

GPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPS1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P080009:  view genomic region     (about GC identifiers)

Start:
80,008,567 bp from pter      End:
80,015,346 bp from pter
Size:
6,780 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CSN1_HUMAN, Q13098 (See protein sequence)
Recommended Name: COP9 signalosome complex subunit 1  
Size: 491 amino acids; 55537 Da
Subunit: Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COP6, COPS7 (COPS7A or
COPS7B) and COPS8. In the complex, it probably interacts directly with COPS2, COPS3, COPS4 and CSN5. Interacts
directly with inositol kinase ITPK1. Interacts with CAPN8 (By similarity)
Sequence caution: Sequence=AAC50906.2; Type=Erroneous initiation;
Secondary accessions: Q8NA10 Q9BWL1
Alternative splicing: 4 isoforms:  Q13098-4   Q13098-5   Q13098-6   Q13098-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GPS1: NX_Q13098

Explore proteomics data for GPS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys183, Lys224, Lys248, Lys268, Lys422, Lys438, Lys444, Lys467
  • Modification sites at PhosphoSitePlus

  • See GPS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004118.3  NP_997657.1  

    ENSEMBL proteins: 
     ENSP00000464575   ENSP00000462391   ENSP00000463690   ENSP00000463381   ENSP00000462265  
     ENSP00000313569   ENSP00000464571   ENSP00000461965   ENSP00000462029   ENSP00000462896  
     ENSP00000464530   ENSP00000463823   ENSP00000462705   ENSP00000302873   ENSP00000462213  
     ENSP00000462297   ENSP00000376167   ENSP00000463514   ENSP00000463937   ENSP00000347251  

    GPS1 Human Recombinant Protein Products:

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    Novus Biologicals GPS1 Proteins
    Novus Biologicals GPS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GPS1

     
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    LSBio Antibodies in human, mouse, rat for GPS1

    GPS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GPS1
    Cloud-Clone Corp. CLIAs for GPS1
    Search eBioscience for ELISAs for GPS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR000717 PCI_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR019585 26S_proteasome_reg_su-Rpn7

    Graphical View of Domain Structure for InterPro Entry Q13098

    ProtoNet protein and cluster: Q13098

    1 Blocks protein domain: IPB000717 Domain in components of the proteasome

    UniProtKB/Swiss-Prot: CSN1_HUMAN, Q13098
    Domain: The PCI domain is necessary and sufficient for the interactions with other CSN subunits of the complex.
    Mediates the interaction with CAPN8 (By similarity)
    Domain: The N-terminal part (1-216), which is not required for deneddylating activity and CSN complex formation,
    is nevertheless essential for other aspects of CSN complex function, such as repression of c-fos/FOS expression
    Similarity: Belongs to the CSN1 family
    Similarity: Contains 1 PCI domain


    Find genes that share domains with GPS1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CSN1_HUMAN, Q13098
    Function: Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and
    developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by
    mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl
    ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation
    of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD
    kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system,
    respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005095GTPase inhibitor activity TAS8943324
    GO:0005515protein binding IPI18850735
         
    Find genes that share ontologies with GPS1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for GPS1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Elongated cells with protrusio 
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GPS1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPS1
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    miRTarBase miRNAs that target GPS1:
    hsa-let-7f-5p (MIRT032090), hsa-mir-93-5p (MIRT048796), hsa-mir-196b-5p (MIRT042663), hsa-let-7i-5p (MIRT024116), hsa-mir-423-3p (MIRT042619), hsa-let-7e-3p (MIRT032096), hsa-let-7c-5p (MIRT032191)

    Block miRNA regulation of human, mouse, rat GPS1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidGPS1 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat GPS1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): GPS1 (NM_212492)
    Sino Biological Human cDNA Clone for GPS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPS1

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CSN1_HUMAN, Q13098: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0008180COP9 signalosome IDA18850735

    Find genes that share ontologies with GPS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GPS1
    Interactions:

        Search GeneGlobe Interaction Network for GPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GPS1 (Q130981, 2, 3 ENSP000003472514) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929051, 2, 3, ENSP000003505124EBI-725197,EBI-594661 MINT-7228641 I2D: score=6 STRING: ENSP00000350512
    GFERP557892, 3, ENSP000002481144MINT-50633 MINT-50640 MINT-50631 MINT-50730 MINT-50632 I2D: score=1 STRING: ENSP00000248114
    CARD11Q9BXL72, 3, ENSP000003801504MINT-7228670 MINT-7228742 I2D: score=3 STRING: ENSP00000380150
    MALT1Q9UDY82, 3, ENSP000003192794MINT-7228697 I2D: score=3 STRING: ENSP00000319279
    COPS3Q9UNS23, ENSP000002687174I2D: score=5 STRING: ENSP00000268717
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000188inactivation of MAPK activity TAS8943324
    GO:0007049cell cycle TAS8943324
    GO:0007254JNK cascade TAS8943324
    GO:0010388cullin deneddylation IDA19141280

    Find genes that share ontologies with GPS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GPS1 (CSN1)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GPS1 gene (2 alternative transcripts): 
    NM_004127.4  NM_212492.1  

    Unigene Cluster for GPS1:

    G protein pathway suppressor 1
    Hs.268530  [show with all ESTs]
    Unigene Representative Sequence: AB209596
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000583983 ENST00000582327 ENST00000585084 ENST00000580716 ENST00000583961
    ENST00000578552(uc002kdl.1 uc002kdn.1) ENST00000320548(uc002kdm.1)
    ENST00000581578 ENST00000583885 ENST00000583641 ENST00000578642 ENST00000581418
    ENST00000580141 ENST00000580627 ENST00000578392 ENST00000306823 ENST00000584229
    ENST00000580723
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): GPS1 (NM_212492)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPS1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GPS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GPS1
      QuantiTect SYBR Green Assays in human, mouse, rat GPS1
      QuantiFast Probe-based Assays in human, mouse, rat GPS1

    Additional mRNA sequence: 

    AB209596.1 AK026610.1 AK093283.1 AK222508.1 AK225248.1 AK289435.1 AK297872.1 BC000155.2 
    BC064503.1 BT009834.1 U20285.2 

    Selected DOTS entries (see all 37):

    DT.448373  DT.100878064  DT.95177324  DT.100878067  DT.92448627  DT.91926933  DT.92448630  DT.121012183 
    DT.100878082  DT.100878065  DT.121012201  DT.100878071  DT.91854403  DT.121012173  DT.121012293  DT.86853991 
    DT.100878077  DT.121012160  DT.121012148  DT.95177281  DT.100878074  DT.121012145  DT.121012243  DT.101981622 

    Selected AceView cDNA sequences (see all 604):

    BU857244 CR608007 BQ880299 AK026610 BF197956 BI838197 U20285 BU552963 
    BU173392 BP370487 BE271569 BQ674503 BG831861 CR591155 BP340192 BG775520 
    BU948038 AA337940 BP367501 BM770261 CA423284 CA417019 BF477741 AI131335 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GPS1 (see all 28)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ·
    SP1:              -     -                 -     -     -                 -                             -                                                         
    SP2:              -     -     -     -     -     -     -                 -                             -                                                         
    SP3:              -     -     -     -     -     -     -                 -                                                                                       
    SP4:                                      -     -     -                 -                             -                                                         
    SP5:              -                       -     -     -           -     -     -     -     -     -     -                                                         

    ExUns: 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b · 17c
    SP1:                                                                    -                                             
    SP2:                                                                    -                                             
    SP3:                                                                    -                                             
    SP4:                                                                    -                                             
    SP5:                                                                    -                                             


    ECgene alternative splicing isoforms for GPS1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GPS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGGGGTGA
    GPS1 Expression
    About this image

    GPS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GPS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268530

    UniProtKB/Swiss-Prot: CSN1_HUMAN, Q13098
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPS1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GPS1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gps11 , 5 G protein pathway suppressor 11, 5 86.63(n)1
    95.82(a)1
      11 (84.54 cM)5
    2093181  NM_145370.21  NP_663345.21 
     1207842725 
    chicken
    (Gallus gallus)
    Aves GPS11 G protein pathway suppressor 1 80.92(n)
    95.81(a)
      417382  NM_001006206.1  NP_001006206.1 
    lizard
    (Anolis carolinensis)
    Reptilia GPS16
    G protein pathway suppressor 1
    95(a)
    1 ↔ 1
    2(118159561-118176833)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152782 Xenopus laevis transcribed sequence with moderate similarity more 77.11(n)    CD302251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.7642 Danio rerio cDNA clone IMAGE5603207, containing frame-shift more 80.03(n)    BC054685.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CSN1b1 , 3 COP9 complex homolog subunit 1 b1 60(a)
    (best of 2)3
    66.52(n)1
    67.1(a)1
      75E43
    400631  NM_079428.31  NP_524152.21 
    worm
    (Caenorhabditis elegans)
    Secernentea csn-16
    Protein CSN-1 (csn-1) mRNA, complete cds
    20(a)
    1 ↔ 1
    V(17861370-17870651) WBGene00000813
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPN76
    Essential, non-ATPase regulatory subunit of the 26...
    20(a)
    1 → many
    XVI(742454-743743) YPR108W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FUS61 FUS6 52.81(n)
    48.66(a)
      825286  NM_115978.3  NP_567109.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01165001 Os03g0116500 52.78(n)
    47.22(a)
      4331403  NM_001055295.1  NP_001048760.1 


    ENSEMBL Gene Tree for GPS1 (if available)
    TreeFam Gene Tree for GPS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GPS1 gene
    PSMD62  

    Find genes that share paralogs with GPS1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GPS1
    PGOHUM00000263165


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GPS1 (see all 164)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165764171,2
    C,F--80011708(+) GCCTCC/ACATCC 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1491496121,2
    C,F--80011767(+) GCCAGC/TTACAG 4 S syn11Minor allele frequency- T:0.00NA 4540
    rs1463564261,2
    C,F--80011773(+) TACAGC/TGGCCT 4 S syn12Minor allele frequency- T:0.00NA EU 5833
    rs2009401241,2
    --80011774(+) ACAGCA/GGCCTG 4 S G mis10--------
    rs1854855921,2
    C--80011795(+) AACGGC/TTGCAG 4 L syn10--------
    rs1475145451,2
    C--80011886(+) GGACAT/CGTACG 4 /T /M mis11Minor allele frequency- C:0.00NA 4522
    rs1481475391,2
    C,F--80011890(+) ATGTAC/TGAGGA 4 Y syn12Minor allele frequency- T:0.00NA EU 5599
    rs1999696651,2
    --80011903(+) TCCACC/TGCAAG 4 R C mis10--------
    rs803508761,2
    C,F--80011943(+) GCTTGG/ACGAGA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs348098891,2
    C,F--80011975(+) AGCGCG/AGGTGT 2 -- int17Minor allele frequency- A:0.10NA WA EA 366

    HapMap Linkage Disequilibrium report for GPS1 (80008567 - 80015346 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GPS1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3353n71CNV Loss21882294
    dgv3351n71CNV Loss21882294
    nsv909188CNV Loss21882294
    nsv909134CNV Loss21882294
    dgv3350n71CNV Loss21882294
    nsv909186CNV Loss21882294
    dgv3349n71CNV Loss21882294
    dgv3341n71CNV Loss21882294
    dgv3352n71CNV Loss21882294
    dgv3333n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GPS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for GPS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601934    OMIM disorders: --


    Find genes that share disorders with GPS1           About GenesLikeMe


    Export disorders for GPS1 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)
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    PubMed articles for GPS1 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with GPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PubMed id 9535219)1, 2, 3 Seeger M.... Dubiel W. (FASEB J. 1998)
    2. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PubMed id 18850735)1, 2 Fang L.... Huang L. (J. Proteome Res. 2008)
    3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Genome Res. 2004)
    6. Protein kinase CK2 and protein kinase D are associated with the COP9 signalosome. (PubMed id 12628923)1, 2 Uhle S....Dubiel W. (EMBO J. 2003)
    7. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PubMed id 12732143)1, 2 Groisman R.... Nakatani Y. (Cell 2003)
    8. Inositol 1,3,4-trisphosphate 5/6-kinase associates with the COP9 signalosome by binding to CSN1. (PubMed id 12324474)1, 2 Sun Y.... Majerus P.W. (J. Biol. Chem. 2002)
    9. The subunit 1 of the COP9 signalosome suppresses gene expression through its N-terminal domain and incorporates into the complex through the PCI domain. (PubMed id 11114242)1, 2 Tsuge T.... Wei N. (J. Mol. Biol. 2001)
    10. COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system. (PubMed id 11285227)1, 2 Bech-Otschir D.... Dubiel W. (EMBO J. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 2873 HGNC: 4549 AceView: GPS1 Ensembl:ENSG00000169727 euGenes: HUgn2873
    ECgene: GPS1 H-InvDB: GPS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GPS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GPS1 gene:
    Search GeneIP for patents involving GPS1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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