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Aliases for GSKIP Gene

Aliases for GSKIP Gene

  • GSK3B Interacting Protein 2 3 5
  • C14orf129 3 4
  • Chromosome 14 Open Reading Frame 129 2
  • GSK3-Beta Interaction Protein 3
  • GSK3beta Interaction Protein 2
  • HSPC210 3

External Ids for GSKIP Gene

Previous HGNC Symbols for GSKIP Gene

  • C14orf129

Previous GeneCards Identifiers for GSKIP Gene

  • GC14P096831

Summaries for GSKIP Gene

Entrez Gene Summary 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.

Additional gene information for GSKIP Gene

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

Genomics for GSKIP Gene

Regulatory Elements for GSKIP Gene

Enhancers for GSKIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H096273 1.3 Ensembl ENCODE dbSUPER 45.6 -88.5 -88460 2 CTCF MAX ZIC2 ZNF2 RAD21 ZFHX2 GLIS2 GATA3 SMC3 ZNF143 GSKIP ENSG00000258729 GC14M096269
GH14H096361 1 ENCODE 55.3 +0.2 236 4 PKNOX1 FOXA2 ATF1 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF121 ZNF766 GSKIP ATG2B
GH14H096307 0.6 ENCODE 67 -53.7 -53709 3 CTCF FOXA2 TAF1 USF2 MAX HNF4A REST RAD21 YY1 GSKIP RNU2-33P PAPOLA ENSG00000258729
GH14H096390 1 ENCODE 15.7 +28.3 28340 1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ZNF143 RUNX3 SP3 GSKIP AK7 RNU2-33P
GH14H096264 1.3 Ensembl ENCODE dbSUPER 8.2 -95.9 -95925 5 CTCF NFIB MAX CEBPG RAD21 ZIC2 ZNF664 ZNF121 POLR2A SMC3 ENSG00000258793 BDKRB2 PAPOLA GSKIP BDKRB1 GC14M096266
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSKIP on UCSC Golden Path with GeneCards custom track

Promoters for GSKIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072751 -252 2801 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF121 ZNF766

Genomic Location for GSKIP Gene

Chromosome:
14
Start:
96,363,452 bp from pter
End:
96,387,290 bp from pter
Size:
23,839 bases
Orientation:
Plus strand

Genomic View for GSKIP Gene

Genes around GSKIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSKIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSKIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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:
    GSK3-beta interaction protein
    Protein Accession:
    Q9P0R6
    Secondary Accessions:
    • B3KSZ0
    • Q9BST1
    • Q9NWK0

    Protein attributes for GSKIP Gene

    Size:
    139 amino acids
    Molecular mass:
    15648 Da
    Quaternary structure:
    • Interacts with GSK3B.
    SequenceCaution:
    • Sequence=AAF36130.1; Type=Frameshift; Positions=132; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GSKIP Gene

neXtProt entry for GSKIP Gene

Post-translational modifications for GSKIP Gene

No Post-translational modifications

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:

Graphical View of Domain Structure for InterPro Entry

Q9P0R6

UniProtKB/Swiss-Prot:

GSKIP_HUMAN :
  • Belongs to the UPF0279 family.
Family:
  • Belongs to the UPF0279 family.
genes like me logo Genes that share domains with GSKIP: view

Function for GSKIP Gene

Phenotypes From GWAS Catalog for GSKIP Gene

Gene Ontology (GO) - Molecular Function for GSKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IDA 19830702
GO:0005515 protein binding IPI 17353931
GO:0008013 NOT beta-catenin binding IDA 27484798
GO:0034237 protein kinase A regulatory subunit binding IPI 27484798
GO:0051018 protein kinase A binding IPI 20007971
genes like me logo Genes that share ontologies with GSKIP: view
genes like me logo Genes that share phenotypes with GSKIP: view

Animal Models for GSKIP Gene

MGI Knock Outs for GSKIP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSKIP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , 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.

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 GSKIP gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20007971
GO:0005737 cytoplasm IDA 20007971
genes like me logo Genes that share ontologies with GSKIP: view

Pathways & Interactions for GSKIP Gene

SuperPathways for GSKIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSKIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress IMP 25920809
GO:0090263 positive regulation of canonical Wnt signaling pathway IDA 27484798
genes like me logo Genes that share ontologies with GSKIP: view

No data available for Pathways by source and SIGNOR curated interactions for GSKIP Gene

Drugs & Compounds for GSKIP Gene

(1) Drugs for GSKIP Gene - From: DGIdb

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
genes like me logo Genes that share compounds with GSKIP: view

Transcripts for GSKIP Gene

Unigene Clusters for GSKIP Gene

GSK3B interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSKIP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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
ECgene alternative splicing isoforms for
GSKIP

Expression for GSKIP Gene

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

Protein differential expression in normal tissues from HIPED for GSKIP Gene

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, PaxDb, MaxQB, and MOPED for GSKIP Gene



NURSA nuclear receptor signaling pathways regulating expression of GSKIP Gene:

GSKIP

SOURCE GeneReport for Unigene cluster for GSKIP Gene:

Hs.4104

mRNA 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(4.7)
  • Intestine(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with GSKIP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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.

Orthologs for GSKIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14H14ORF129 34
  • 100 (a)
OneToOne
C14H14orf129 33
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia GSKIP 33 34
  • 89.93 (n)
dog
(Canis familiaris)
Mammalia GSKIP 33 34
  • 89.54 (n)
mouse
(Mus musculus)
Mammalia Gskip 33 16 34
  • 87.77 (n)
rat
(Rattus norvegicus)
Mammalia Gskip 33
  • 87.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GSKIP 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSKIP 34
  • 77 (a)
OneToOne
C5H14ORF129 33
  • 75.3 (n)
lizard
(Anolis carolinensis)
Reptilia GSKIP 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gskip 33
  • 72.18 (n)
Str.17150 33
zebrafish
(Danio rerio)
Actinopterygii gskip 33 34
  • 65.66 (n)
wufc74a11 33
fruit fly
(Drosophila melanogaster)
Insecta CG11523 34
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T24H7.3 34
  • 28 (a)
OneToMany
C06A12.3 34
  • 14 (a)
OneToMany
Y43F8B.2 34
  • 13 (a)
OneToMany
Species where no ortholog for GSKIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for GSKIP Gene

No data available for Paralogs for GSKIP Gene

Variants for GSKIP Gene

Sequence variations from dbSNP and Humsavar for GSKIP Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000064310 -- 96,370,402(+) GGTTC(A/G)TTTGG intron-variant
rs1000093577 -- 96,370,018(+) CACCC(C/T)TCATA intron-variant
rs1000178132 -- 96,375,821(+) ACTCT(G/T)CAGAG intron-variant
rs1000212045 -- 96,376,903(+) TAATG(A/T)TTCAT intron-variant
rs1000240449 -- 96,370,978(+) ATGGG(A/C)AAATA intron-variant

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

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

Variation tolerance for GSKIP Gene

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)

Relevant External Links for GSKIP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSKIP

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

Disorders for GSKIP Gene

Relevant External Links for GSKIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSKIP

No disorders were found for GSKIP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSKIP Gene

Publications for GSKIP Gene

  1. 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 60
  2. 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 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 60

Products for GSKIP Gene

Sources for GSKIP Gene

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