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This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting ... See more...
Aliases for GSKIP Gene
Aliases for GSKIP Gene
External Ids for GSKIP Gene
- HGNC: 20343
- NCBI Entrez Gene: 51527
- Ensembl: ENSG00000100744
- OMIM®: 616605
- UniProtKB/Swiss-Prot: Q9P0R6
Previous HGNC Symbols for GSKIP Gene
- C14orf129
Previous GeneCards Identifiers for GSKIP Gene
- GC14P096831
Summaries for GSKIP Gene
-
This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
GeneCards Summary for GSKIP Gene
GSKIP (GSK3B Interacting Protein) is a Protein Coding gene. Diseases associated with GSKIP include Thrombocythemia 1 and Essential Thrombocythemia.
UniProtKB/Swiss-Prot Summary for GSKIP Gene
-
A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702).
Additional gene information for GSKIP Gene
- HGNC (20343)
- NCBI Entrez Gene (51527)
- Ensembl (ENSG00000100744)
- OMIM® (616605)
- UniProtKB/Swiss-Prot (Q9P0R6)
- Open Targets Platform(ENSG00000100744)
- Monarch Initiative
- Search for GSKIP at DataMed
- Search for GSKIP at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSKIP Gene
Genomics for GSKIP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GSKIP 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 GSKIP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSKIP
Genomic Locations for GSKIP Gene
Latest Assembly
- chr14:96,363,452-96,387,290
- (GRCh38/hg38)
- Size:
- 23,839 bases
- Orientation:
- Plus strand
Previous Assembly
- chr14:96,829,863-96,853,627
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 23,765 bases
- Orientation:
- Plus strand
- chr14:96,829,814-96,853,625
- (GRCh37/hg19 by Ensembl)
- Size:
- 23,812 bases
- Orientation:
- Plus strand
Genomic View for GSKIP Gene
Genes around GSKIP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.2 by HGNC
- 14q32.2 by Entrez Gene
- 14q32.2 by Ensembl
GSKIP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GSKIP Gene
Proteins for GSKIP Gene
-
Protein details for GSKIP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P0R6-GSKIP_HUMAN
- Recommended name:
- GSK3B-interacting protein
- Protein Accession:
- Q9P0R6
- B3KSZ0
- Q9BST1
- Q9NWK0
Protein attributes for GSKIP Gene
- Size:
- 139 amino acids
- Molecular mass:
- 15648 Da
- Quaternary structure:
-
- Forms a complex composed of PRKAR2A or PRKAR2B, GSK3B and GSKIP through GSKIP interaction; facilitates PKA-induced phosphorylation of GSK3B leading to GSK3B inactivation; recruits DNM1L through GSK3B for PKA-mediated phosphorylation of DNM1L; promotes beta-catenin degradation through GSK3B-induced phosphorylation of beta-catenin; stabilizes beta-catenin and enhances Wnt-induced signaling through PKA-induced phosphorylation of beta-catenin (PubMed:20007971, PubMed:25920809, PubMed:27484798). Interacts with GSK3B; induces GSK3B-mediated phosphorylation of GSKIP and inhibits GSK3B kinase activity (PubMed:16981698, PubMed:25920809).
- SequenceCaution:
-
- Sequence=AAF36130.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for GSKIP Gene
Post-translational modifications for GSKIP Gene
- Phosphorylated by GSK3B.
Other Protein References for GSKIP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for GSKIP
- Novus Biologicals Antibodies for GSKIP
- Invitrogen Antibodies for GSKIP (AFLGC-GSKIP)
Protein products for research
-
OriGene Purified Proteins for GSKIP
- Search Origene for MassSpec and Protein Over-expression Lysates for GSKIP
- Origene Custom Protein Services for GSKIP
- ProSpec Recombinant Proteins for GSKIP
-
Abcam proteins for GSKIP
Assay products for research
- G Biosciences Immunotag™ GSK3-beta interaction protein ELISA Kit
- antibodies-online: Show 9 available GSKIP Elisa Kits ranked by validation data
- Compare Top GSKIP Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for GSKIP Gene
Domains & Families for GSKIP Gene
Gene Families for GSKIP Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GSKIP Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GSKIP Gene
- GenScript: Design optimal peptide antigens:
-
- GSK3-beta interaction protein (GSKIP_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9P0R6- Family:
-
- Belongs to the GSKIP family.
Function for GSKIP Gene
Molecular function for GSKIP Gene
- UniProtKB/Swiss-Prot Function:
- A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702).
Phenotypes From GWAS Catalog for GSKIP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004860 | protein kinase inhibitor activity | IMP | 16981698 |
| GO:0005515 | protein binding | IPI | 20007971 |
| GO:0008013 | NOT beta-catenin binding | IDA | 27484798 |
| GO:0019207 | kinase regulator activity | IBA | 21873635 |
| GO:0019901 | protein kinase binding | IPI | 16981698 |
Phenotypes for GSKIP Gene
- MGI mutant phenotypes for GSKIP:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GSKIP:
Animal Models for GSKIP Gene
- MGI Knock Outs for GSKIP:
-
- Gskip Gskip<tm1.2Ekn>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GSKIP - Starting at $85 >
- * GSKIP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GSKIP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GSKIP
-
Santa Cruz Biotechnology (SCBT) CRISPR for GSKIP
miRNA for GSKIP Gene
- miRTarBase miRNAs that target GSKIP
-
- mmu-miR-7b-5p (MIRT009340)
- hsa-miR-6079 (MIRT559847)
- hsa-miR-671-5p (MIRT559849)
- hsa-miR-6828-5p (MIRT559850)
- hsa-miR-382-5p (MIRT559851)
- hsa-miR-495-5p (MIRT559852)
- hsa-miR-548x-3p (MIRT559853)
- hsa-miR-548j-3p (MIRT559854)
- hsa-miR-548aq-3p (MIRT559855)
- hsa-miR-548am-3p (MIRT559856)
- hsa-miR-548aj-3p (MIRT559857)
- hsa-miR-548ah-3p (MIRT559858)
- hsa-miR-548ae-3p (MIRT559859)
- hsa-miR-548z (MIRT559860)
- hsa-miR-548h-3p (MIRT559861)
- hsa-miR-548d-3p (MIRT559862)
- hsa-miR-548bb-3p (MIRT559863)
- hsa-miR-548ac (MIRT559864)
- mmu-miR-448-3p (MIRT585018)
- mmu-miR-669i (MIRT585019)
- mmu-miR-669j (MIRT585020)
- mmu-miR-669f-3p (MIRT585021)
- mmu-miR-30a-5p (MIRT585022)
- mmu-miR-30b-5p (MIRT585023)
- mmu-miR-30e-5p (MIRT585024)
- mmu-miR-30c-5p (MIRT585025)
- mmu-miR-30d-5p (MIRT585026)
- mmu-miR-384-5p (MIRT585027)
- mmu-miR-1192 (MIRT585028)
- mmu-miR-495-3p (MIRT585029)
- hsa-miR-19b-3p (MIRT728153)
- hsa-miR-181d-5p (MIRT728154)
- hsa-miR-19a-3p (MIRT728155)
- hsa-miR-181c-5p (MIRT728156)
- hsa-miR-181b-5p (MIRT728157)
- hsa-miR-181a-5p (MIRT728158)
- hsa-miR-1182 (MIRT783093)
- hsa-miR-1250-3p (MIRT783208)
- hsa-miR-153-5p (MIRT783903)
- hsa-miR-193a-5p (MIRT784041)
- hsa-miR-335-3p (MIRT784878)
- hsa-miR-3658 (MIRT785040)
- hsa-miR-374a-5p (MIRT785352)
- hsa-miR-374b-5p (MIRT785358)
- hsa-miR-4273 (MIRT785561)
- hsa-miR-4524a-3p (MIRT786109)
- hsa-miR-4524b-3p (MIRT786148)
- hsa-miR-4677-5p (MIRT786391)
- hsa-miR-4775 (MIRT786721)
- hsa-miR-5696 (MIRT787804)
- hsa-miR-579-3p (MIRT787915)
- hsa-miR-590-3p (MIRT787952)
- hsa-miR-664b-3p (MIRT788436)
- hsa-miR-6739-3p (MIRT788509)
- hsa-miR-7156-5p (MIRT789444)
- hsa-miR-7856-5p (MIRT789606)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GSKIP
- Browse OriGene Inhibitory RNA Products For GSKIP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSKIP
Clone products for research
- Applied Biological Materials (abm): Clones for GSKIP - Starting at $45 >
- * GSKIP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GSKIP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GSKIP
Cell Lines for research
-
Horizon Cell Lines for GSKIP
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GSKIP Gene
Localization for GSKIP Gene
Subcellular locations from UniProtKB/Swiss-Prot for GSKIP Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| extracellular | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
- Nucleoli (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 20007971 |
| GO:0005737 | cytoplasm | IBA,IDA | 16981698 |
Pathways & Interactions for GSKIP Gene
Interacting Proteins for GSKIP Gene
GPS-Prot Interaction Network for GSKIP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006469 | negative regulation of protein kinase activity | IMP | 16981698 |
| GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | IMP | 25920809 |
| GO:0030111 | regulation of Wnt signaling pathway | IBA,IMP | 16981698 |
| GO:0060828 | regulation of canonical Wnt signaling pathway | IEA | -- |
| GO:0090263 | positive regulation of canonical Wnt signaling pathway | IDA | 27484798 |
No data available for Pathways by source and SIGNOR curated interactions for GSKIP Gene
Drugs & Compounds for GSKIP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| AT9283 | Investigational | Pharma | inhibitor | Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors | 0 |
Transcripts for GSKIP Gene
mRNA/cDNA for GSKIP Gene
- 4 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000438650 2140 nts (view in UCSC)
- ENST00000553699 501 nts (view in UCSC)
- ENST00000554182 760 nts (view in UCSC)
- ENST00000555088 648 nts (view in UCSC)
- ENST00000555181 2169 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GSKIP - Starting at $85 >
- * GSKIP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for GSKIP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GSKIP
-
Santa Cruz Biotechnology (SCBT) CRISPR for GSKIP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GSKIP
- Browse OriGene Inhibitory RNA Products For GSKIP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSKIP
Clone products for research
- Applied Biological Materials (abm): Clones for GSKIP - Starting at $45 >
- * GSKIP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for GSKIP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GSKIP
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - |
Relevant External Links for GSKIP Gene
- GeneLoc Exon Structure for
- GSKIP
Expression for GSKIP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Colon (Gastrointestinal Tract)
This gene is overexpressed in Bone (17.3), Colon (7.1), and Rectum (6.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GSKIP Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSKIP
SOURCE GeneReport for Unigene cluster for GSKIP Gene:
Hs.4104mRNA Expression by UniProt/SwissProt for GSKIP Gene:
Q9P0R6-GSKIP_HUMAN
Tissue specificity:
Detected in heart, brain, placenta, liver, skeletal muscle, kidney, testis, lung and pancreas.
Evidence on tissue expression from TISSUES for GSKIP Gene
- Nervous system(4.8)
- Blood(4.3)
- Intestine(4.2)
Primer products for research
-
OriGene qPCR primer pairs for GSKIP
-
OriGene qPCR primer pairs and template standards for GSKIP
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSKIP Gene
Orthologs for GSKIP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C14H14ORF129 31 |
|
OneToOne | |
| C14H14orf129 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | GSKIP 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GSKIP 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gskip 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gskip 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GSKIP 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | GSKIP 31 |
|
OneToOne | |
| C5H14ORF129 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | GSKIP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gskip 30 |
|
||
| Str.17150 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | gskip 30 31 |
|
OneToOne | |
| wufc74a11 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11523 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | T24H7.3 31 |
|
OneToMany | |
| C06A12.3 31 |
|
OneToMany | |||
| Y43F8B.2 31 |
|
OneToMany |
- Species where no ortholog for GSKIP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- 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 Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
- Wheat (Triticum aestivum)
Evolution for GSKIP Gene
- ENSEMBL:
- Gene Tree for GSKIP (if available)
- TreeFam:
- Gene Tree for GSKIP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GSKIP: view image
Paralogs for GSKIP Gene
No data available for Paralogs for GSKIP Gene
Variants for GSKIP Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2660133 | CNV | deletion | 23128226 |
| esv28071 | CNV | loss | 19812545 |
| esv3552010 | CNV | deletion | 23714750 |
| esv3635422 | CNV | loss | 21293372 |
| esv3635423 | CNV | gain | 21293372 |
| nsv565649 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.10;
2.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GSKIP Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GSKIP
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSKIP Gene
Disorders for GSKIP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| thrombocythemia 1 |
|
|
| essential thrombocythemia |
|
|
| myelofibrosis |
|
|
| leukemia, acute myeloid |
|
|
Search GSKIP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GSKIP
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GSKIP Gene
Publications for GSKIP Gene
- GSKIP is homologous to the Axin GSK3beta interaction domain and functions as a negative regulator of GSK3beta. (PMID: 16981698) Chou HY … Hong YR (Biochemistry 2006) 2 3 4
- The A-Kinase Anchoring Protein (AKAP) Glycogen Synthase Kinase 3β Interaction Protein (GSKIP) Regulates β-Catenin through Its Interactions with Both Protein Kinase A (PKA) and GSK3β. (PMID: 27484798) Dema A … Klussmann E (The Journal of biological chemistry 2016) 3 4
- GSKIP- and GSK3-mediated anchoring strengthens cAMP/PKA/Drp1 axis signaling in the regulation of mitochondrial elongation. (PMID: 25920809) Loh JK … Hong YR (Biochimica et biophysica acta 2015) 3 4
- Prediction of the binding mode between GSK3β and a peptide derived from GSKIP using molecular dynamics simulation. (PMID: 21328310) Tang XN … Yang CN (Biopolymers 2011) 2 3
- Glycogen synthase kinase 3beta interaction protein functions as an A-kinase anchoring protein. (PMID: 20007971) Hundsrucker C … Klussmann E (The Journal of biological chemistry 2010) 3 4
ExternalLinks
Products for GSKIP Gene
- Custom Antibody ServicesOriGene Antibodies for GSKIP
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GSKIP
- Search Origene for MassSpec and Protein Over-expression Lysates for GSKIP
- Origene Custom Protein Services for GSKIP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GSKIP
- Browse OriGene Inhibitory RNA Products For GSKIP
- OriGene qPCR primer pairs for GSKIP
- OriGene qPCR primer pairs and template standards for GSKIP
- OriGene CRISPR knockouts for GSKIP
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- Browse OriGene miRNA Products For GSKIP
- Sino Biological Human cDNA Clone for GSKIP
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GSKIP
- Novus Biologicals proteins and lysates for GSKIP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for GSKIP
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for GSKIP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GSKIP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GSKIP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GSKIP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GSKIP
- antibodies-online: Show 4 available GSKIP Antibodies ranked by validation data
- Compare Top GSKIP Antibodies
- antibodies-online: Show 9 available GSKIP Elisa Kits ranked by validation data
- Compare Top GSKIP Elisa Kits
- Quality Products:
- antibodies-online: Show 11 available GSKIP Proteins ranked by validation data
- Compare Top GSKIP Proteins
- Horizon Cell Lines for GSKIP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GSKIP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GSKIP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GSKIP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSKIP
Sources for GSKIP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB