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. [provided by RefSeq, Mar 2016] See more...

Aliases for GPS1 Gene

Aliases for GPS1 Gene

  • G Protein Pathway Suppressor 1 2 3 4 5
  • COPS1 2 3 4
  • CSN1 2 3 4
  • JAB1-Containing Signalosome Subunit 1 3 4
  • COP9 Signalosome Complex Subunit 1 3 4
  • SGN1 3 4
  • COP9 Signalosome Subunit 1 2
  • Signalosome Subunit 1 4
  • Protein MFH 4
  • GPS-1 4
  • GPS1 5

External Ids for GPS1 Gene

Previous GeneCards Identifiers for GPS1 Gene

  • GC17P079433
  • GC17P9J0051
  • GC17P080545
  • GC17P077603
  • GC17P080009
  • GC17P075409

Summaries for GPS1 Gene

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. [provided by RefSeq, Mar 2016]

GeneCards Summary for GPS1 Gene

GPS1 (G Protein Pathway Suppressor 1) is a Protein Coding gene. Diseases associated with GPS1 include Xeroderma Pigmentosum, Complementation Group E and Corneal Dystrophy, Avellino Type. Among its related pathways are Clathrin-mediated endocytosis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include GTPase inhibitor activity. An important paralog of this gene is PSMD6.

UniProtKB/Swiss-Prot Summary for GPS1 Gene

  • 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

Additional gene information for GPS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPS1 Gene

Genomics for GPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPS1

Top Transcription factor binding sites by QIAGEN in the GPS1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB1
  • PPAR-gamma2
  • STAT3

Genomic Locations for GPS1 Gene

Genomic Locations for GPS1 Gene
chr17:82,050,691-82,058,064
(GRCh38/hg38)
Size:
7,374 bases
Orientation:
Plus strand
chr17:80,008,567-80,015,346
(GRCh37/hg19)
Size:
6,780 bases
Orientation:
Plus strand

Genomic View for GPS1 Gene

Genes around GPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPS1 Gene

Proteins for GPS1 Gene

  • Protein details for GPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13098-CSN1_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 1
    Protein Accession:
    Q13098
    Secondary Accessions:
    • Q8NA10
    • Q9BWL1

    Protein attributes for GPS1 Gene

    Size:
    491 amino acids
    Molecular mass:
    55537 Da
    Quaternary structure:
    • Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1 (PubMed:11337588, PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS2, COPS3, COPS4 and COPS5 (PubMed:11114242). Interacts directly with inositol kinase ITPK1 (PubMed:12324474). Interacts with CAPN8 (By similarity).
    SequenceCaution:
    • Sequence=AAC50906.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPS1 Gene

    Alternative splice isoforms for GPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPS1 Gene

Post-translational modifications for GPS1 Gene

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

No data available for DME Specific Peptides for GPS1 Gene

Domains & Families for GPS1 Gene

Gene Families for GPS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GPS1 Gene

InterPro:
Blocks:
  • Domain in components of the proteasome, COP9-complex and eIF3 (PCI)
ProtoNet:

Suggested Antigen Peptide Sequences for GPS1 Gene

GenScript: Design optimal peptide antigens:
  • Protein MFH (CSN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13098

UniProtKB/Swiss-Prot:

CSN1_HUMAN :
  • The PCI domain is necessary and sufficient for the interactions with other CSN subunits of the complex. Mediates the interaction with CAPN8 (By similarity).
  • Belongs to the CSN1 family.
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).
  • 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.
Family:
  • Belongs to the CSN1 family.
genes like me logo Genes that share domains with GPS1: view

Function for GPS1 Gene

Molecular function for GPS1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for GPS1 Gene

Gene Ontology (GO) - Molecular Function for GPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005095 GTPase inhibitor activity TAS 8943324
GO:0005515 protein binding IPI 17337451
genes like me logo Genes that share ontologies with GPS1: view
genes like me logo Genes that share phenotypes with GPS1: view

Animal Models for GPS1 Gene

MGI Knock Outs for GPS1:
  • Gps1 Gps1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GPS1 Gene

Localization for GPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPS1 Gene

Cytoplasm. Nucleus.

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 GPS1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0008180 COP9 signalosome IEA,IDA 18850735
genes like me logo Genes that share ontologies with GPS1: view

Pathways & Interactions for GPS1 Gene

genes like me logo Genes that share pathways with GPS1: view

Gene Ontology (GO) - Biological Process for GPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000188 inactivation of MAPK activity TAS 8943324
GO:0000338 protein deneddylation IEA,IDA 19141280
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0007254 JNK cascade TAS 8943324
genes like me logo Genes that share ontologies with GPS1: view

No data available for SIGNOR curated interactions for GPS1 Gene

Drugs & Compounds for GPS1 Gene

No Compound Related Data Available

Transcripts for GPS1 Gene

mRNA/cDNA for GPS1 Gene

9 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPS1 Gene

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: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - -
SP7:
SP8:
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - -
SP15: - - - - - - -
SP16: - - - - - -
SP17: - - - - - - -
SP18: - - - - -
SP19: - - - - - -
SP20: - -
SP21: - - - - - - - -
SP22: - - - - -
SP23:
SP24:
SP25: - -
SP26:
SP27: - - - - - - -
SP28:

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: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: -
SP24: -
SP25:
SP26:
SP27:
SP28: - -

Relevant External Links for GPS1 Gene

GeneLoc Exon Structure for
GPS1

Expression for GPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPS1 Gene

Protein differential expression in normal tissues from HIPED for GPS1 Gene

This gene is overexpressed in Lymph node (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPS1 Gene



Protein tissue co-expression partners for GPS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPS1

SOURCE GeneReport for Unigene cluster for GPS1 Gene:

Hs.268530

mRNA Expression by UniProt/SwissProt for GPS1 Gene:

Q13098-CSN1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for GPS1 Gene

  • Nervous system(4.8)
  • Intestine(3.7)
  • Lung(3.5)
  • Skin(3.3)
  • Kidney(3.1)
  • Blood(2.8)
  • Eye(2.8)
  • Muscle(2.7)
  • Liver(2.5)
  • Lymph node(2.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with GPS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPS1 Gene

Orthologs for GPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPS1 31
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GPS1 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GPS1 30 31
  • 90.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPS1 30 31
  • 89.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gps1 30
  • 87.07 (n)
Mouse
(Mus musculus)
Mammalia Gps1 30 17 31
  • 86.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GPS1 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GPS1 30 31
  • 80.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GPS1 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gps1 30
  • 77.01 (n)
Str.10225 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15278 30
Zebrafish
(Danio rerio)
Actinopterygii gps1 30 31
  • 78.87 (n)
OneToOne
Dr.764 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12745 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004953 30
  • 68.64 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CSN1b 30 31 32
  • 66.52 (n)
OneToOne
BG:DS06874.2 32
  • 39 (a)
Worm
(Caenorhabditis elegans)
Secernentea csn-1 31
  • 20 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN7 31
  • 20 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FUS6 30
  • 52.81 (n)
Soybean
(Glycine max)
eudicotyledons Gma.2471 30
Rice
(Oryza sativa)
Liliopsida Os03g0116500 30
  • 52.78 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6603 31
  • 60 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8905 30
Species where no ortholog for GPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GPS1 Gene

ENSEMBL:
Gene Tree for GPS1 (if available)
TreeFam:
Gene Tree for GPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPS1: view image

Paralogs for GPS1 Gene

Paralogs for GPS1 Gene

Pseudogenes.org Pseudogenes for GPS1 Gene

genes like me logo Genes that share paralogs with GPS1: view

Variants for GPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPS1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
709299 Benign: not provided 82,054,634(+) C/T SYNONYMOUS_VARIANT
716492 Benign: not provided 82,051,566(+) G/A SYNONYMOUS_VARIANT
rs1568068526 Uncertain Significance: not provided 82,056,522(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GPS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GPS1 Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
nsv1112723 CNV deletion 24896259
nsv428351 CNV gain 18775914
nsv457975 CNV loss 19166990
nsv457976 CNV gain 19166990
nsv470620 CNV loss 18288195
nsv470621 CNV gain 18288195
nsv576183 CNV loss 21841781
nsv576187 CNV gain 21841781
nsv576188 CNV loss 21841781
nsv576189 CNV loss 21841781
nsv952392 CNV deletion 24416366

Variation tolerance for GPS1 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPS1 Gene

Human Gene Mutation Database (HGMD)
GPS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPS1 Gene

Disorders for GPS1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPS1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GPS1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GPS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GPS1 Gene

Publications for GPS1 Gene

  1. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PMID: 9535219) Seeger M … Dubiel W (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 2 3 4
  2. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. (PMID: 26456823) Rozen S … Sharon M (Cell reports 2015) 3 4
  3. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L … Huang L (Journal of proteome research 2008) 3 4
  4. Ankyrin repeat and SOCS box containing protein 4 (Asb-4) interacts with GPS1 (CSN1) and inhibits c-Jun NH2-terminal kinase activity. (PMID: 17276034) Li JY … Mulholland MW (Cellular signalling 2007) 3 23
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4

Products for GPS1 Gene