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    GSKIP GSK3B interacting protein [ Homo sapiens (human) ]

    Gene ID: 51527, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GSKIPprovided by HGNC
    Official Full Name
    GSK3B interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20343
    See related
    Ensembl:ENSG00000100744 MIM:616605; AllianceGenome:HGNC:20343
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC210; C14orf129
    Summary
    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]
    Expression
    Broad expression in colon (RPKM 25.5), small intestine (RPKM 20.7) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See GSKIP in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96363526..96387290)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90595122..90618884)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96829863..96853627)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:96734992-96736191 Neighboring gene bradykinin receptor B1 Neighboring gene NANOG hESC enhancer GRCh37_chr14:96748657-96749197 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38870 Neighboring gene autophagy related 2B Neighboring gene uncharacterized LOC124903430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8985 Neighboring gene Sharpr-MPRA regulatory region 11883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6054 Neighboring gene RNA, U2 small nuclear 33, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96878860-96878992 Neighboring gene translation machinery-associated protein 7-like Neighboring gene adenylate kinase 7 Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High expression of GSKIP is associated with poor prognosis in meningioma. Cheng YW, et al. Medicine (Baltimore), 2022 Dec 16. PMID 36550871, Free PMC Article
    2. The origin of GSKIP, a multifaceted regulatory factor in the mammalian Wnt pathway. Chou CH, et al. Biochim Biophys Acta Mol Cell Res, 2018 Aug. PMID 29694914
    3. Involvement of the residues of GSKIP, AxinGID, and FRATtide in their binding with GSK3beta to unravel a novel C-terminal scaffold-binding region. Howng SL, et al. Mol Cell Biochem, 2010 Jun. PMID 20043192
    4. Prediction of the binding mode between GSK3β and a peptide derived from GSKIP using molecular dynamics simulation. Tang XN, et al. Biopolymers, 2011 Jul. PMID 21328310
    5. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms. Pegliasco J, et al. Leukemia, 2022 Jan. PMID 34172895

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High expression of GSKIP is associated with poor prognosis in meningioma.
      Title: High expression of GSKIP is associated with poor prognosis in meningioma.
    2. Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size.
      Title: Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size.
    3. Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
      Title: Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
    4. ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies.
      Title: ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies.
    5. Findings support the idea that in addition to its reported role in modulating Drp1, Ser637 phosphorylation causing mitochondrial elongation, GSKIP acts as a scavenger to take GSK3beta away from the beta-catenin destruction complex or as a competitor for GSK3beta binding in the Wnt pathway.
      Title: The origin of GSKIP, a multifaceted regulatory factor in the mammalian Wnt pathway.
    6. findings highlight an essential compartmentalization of both PKA and GSK3beta by GSKIP, and ascribe a function to a cytosolic AKAP-PKA interaction as a regulatory factor in the control of canonical Wnt signaling.
      Title: 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.
    7. demonstrate that overexpression of ATG2B and GSKIP enhances hematopoietic progenitor differentiation, including of megakaryocytes, by increasing progenitor sensitivity to thrombopoietin
      Title: Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
    8. analysis of the GSK3beta-GSKIPtide complex structure and the X-ray crystal structures of GSK3beta-FRATide and GSK3beta-AxinGID complexes suggests that the hydroxyl group of Y288 is crucial to maintaining a hydrogen bond network in GSK3beta-FRATide
      Title: Prediction of the binding mode between GSK3β and a peptide derived from GSKIP using molecular dynamics simulation.
    9. GSKIP is a naturally occurring protein that is homologous with the GSK3beta interaction domain of Axin and is able to negatively regulate GSK3beta of the Wnt signaling pathway.
      Title: GSKIP is homologous to the Axin GSK3beta interaction domain and functions as a negative regulator of GSK3beta.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4945

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A regulatory subunit binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein kinase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GSK3B-interacting protein
    Names
    GSK3-beta interaction protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271904.1 → NP_001258833.1  GSK3B-interacting protein

      See identical proteins and their annotated locations for NP_001258833.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK094654, AL359240, W04717
      Consensus CDS
      CCDS32153.1
      UniProtKB/Swiss-Prot
      B3KSZ0, Q9BST1, Q9NWK0, Q9P0R6
      Related
      ENSP00000451188.1, ENST00000556095.5
      Conserved Domains (1) summary
      pfam05303
      Location:33 → 133
      DUF727; Protein of unknown function (DUF727)

    2. NM_001271905.2 → NP_001258834.1  GSK3B-interacting protein

      See identical proteins and their annotated locations for NP_001258834.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL359240
      Consensus CDS
      CCDS32153.1
      UniProtKB/Swiss-Prot
      B3KSZ0, Q9BST1, Q9NWK0, Q9P0R6
      Related
      ENSP00000451384.1, ENST00000554182.5
      Conserved Domains (1) summary
      pfam05303
      Location:33 → 133
      DUF727; Protein of unknown function (DUF727)

    3. NM_001271906.2 → NP_001258835.1  GSK3B-interacting protein

      See identical proteins and their annotated locations for NP_001258835.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL359240
      Consensus CDS
      CCDS32153.1
      UniProtKB/Swiss-Prot
      B3KSZ0, Q9BST1, Q9NWK0, Q9P0R6
      Related
      ENSP00000412315.1, ENST00000438650.5
      Conserved Domains (1) summary
      pfam05303
      Location:33 → 133
      DUF727; Protein of unknown function (DUF727)

    4. NM_016472.5 → NP_057556.2  GSK3B-interacting protein

      See identical proteins and their annotated locations for NP_057556.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL359240
      Consensus CDS
      CCDS32153.1
      UniProtKB/Swiss-Prot
      B3KSZ0, Q9BST1, Q9NWK0, Q9P0R6
      Related
      ENSP00000450420.1, ENST00000555181.6
      Conserved Domains (1) summary
      pfam05303
      Location:33 → 133
      DUF727; Protein of unknown function (DUF727)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      96363526..96387290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      90595122..90618884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P0R6.2 GenPept UniProtKB/Swiss-Prot:Q9P0R6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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