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    GKN1 gastrokine 1 [ Homo sapiens (human) ]

    Gene ID: 56287, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GKN1provided by HGNC
    Official Full Name
    gastrokine 1provided by HGNC
    Primary source
    HGNC:HGNC:23217
    See related
    Ensembl:ENSG00000169605 MIM:606402; AllianceGenome:HGNC:23217
    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
    FOV; CA11; AMP18; BRICD1; foveolin
    Summary
    The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward stomach (RPKM 11425.3) See more
    Orthologs
    all
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    Genomic context

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    See GKN1 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68974636..68980976)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68987051..68993391)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69201768..69208108)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15968 Neighboring gene gastrokine 3, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:69199258-69199490 Neighboring gene gastrokine 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59282 Neighboring gene ANTXR cell adhesion molecule 1 Neighboring gene microRNA 3126 Neighboring gene Sharpr-MPRA regulatory region 10320 Neighboring gene Sharpr-MPRA regulatory region 8391 Neighboring gene Sharpr-MPRA regulatory region 12475 Neighboring gene RNA, 5S ribosomal pseudogene 96

    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. Gastrokine 1 functions as a tumor suppressor by inhibition of epithelial-mesenchymal transition in gastric cancers. Yoon JH, et al. J Cancer Res Clin Oncol, 2011 Nov. PMID 21898090
    2. Functional analysis of the NH2-terminal hydrophobic region and BRICHOS domain of GKN1. Yoon JH, et al. Biochem Biophys Res Commun, 2013 Nov 1. PMID 24099765
    3. The tumor suppressor gastrokine-1 is expressed in placenta and contributes to the regulation of trophoblast migration. Fahlbusch FB, et al. Placenta, 2013 Nov. PMID 23993393
    4. Gastrokine 1 inhibits the carcinogenic potentials of Helicobacter pylori CagA. Yoon JH, et al. Carcinogenesis, 2014 Nov. PMID 25239641, Free PMC Article
    5. Gastrokine 1 induces senescence and apoptosis through regulating telomere length in gastric cancer. Yoon JH, et al. Oncotarget, 2014 Nov 30. PMID 25344918, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IL-33 Accelerates Chronic Atrophic Gastritis through AMPK-ULK1 Axis Mediated Autolysosomal Degradation of GKN1.
      Title: IL-33 Accelerates Chronic Atrophic Gastritis through AMPK-ULK1 Axis Mediated Autolysosomal Degradation of GKN1.
    2. Significance of Gastrokine-1 Polymorphism Rs4254535 as a Prognostic Marker and its Association with Clinical Characteristics in Chinese Lung Cancer Patients.
      Title: Significance of Gastrokine-1 Polymorphism Rs4254535 as a Prognostic Marker and its Association with Clinical Characteristics in Chinese Lung Cancer Patients.
    3. miR-548d-3p inhibits the invasion and migration of gastric cancer cells by targeting GKN1.
      Title: miR-548d-3p inhibits the invasion and migration of gastric cancer cells by targeting GKN1.
    4. Women with chronic follicular gastritis positive for Helicobacter pylori express lower levels of GKN1.
      Title: Women with chronic follicular gastritis positive for Helicobacter pylori express lower levels of GKN1.
    5. Uptake and tumor-suppressive pathways of exosome-associated GKN1 protein in gastric epithelial cells.
      Title: Uptake and tumor-suppressive pathways of exosome-associated GKN1 protein in gastric epithelial cells.
    6. Coordinate expression loss of GKN1 and GKN2 in gastric cancer via impairment of a glucocorticoid-responsive enhancer.
      Title: Coordinate expression loss of GKN1 and GKN2 in gastric cancer via impairment of a glucocorticoid-responsive enhancer.
    7. The diagnostic value of serum gastrokine 1 (GKN1) protein in gastric cancer.
      Title: The diagnostic value of serum gastrokine 1 (GKN1) protein in gastric cancer.
    8. AUF1 knockdown resulted in upregulation of GKN1 expression and promoted GKN1 mRNA decay by binding the 3' untranslated region of GKN1 mRNA H. pylori-induced AUF1 expression was associated with p-ERK activation and CagA.
      Title: Helicobacter pylori inhibits GKN1 expression via the CagA/p-ERK/AUF1 pathway.
    9. GKN1 plays an important role in the maintenance of gastric homeostasis. In inflamed mucosa, both with and without H. pylori infection, GKN1 levels decrease, while the protein is absent in gastric cancer. The measurement of circulating GKN1 concentration, the protein itself or its mRNA in gastric tissue could be useful for the early diagnosis of cancer. [review]
      Title: Regulation of GKN1 expression in gastric carcinogenesis: A problem to resolve (Review).
    10. K14-high cells contribute to lung cancer metastasis potentially through inhibition of anoikis via upregulation of Gkn1.
      Title: Keratin 14-high subpopulation mediates lung cancer metastasis potentially through Gkn1 upregulation.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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

    • MGC70354

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in digestion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gastrokine-1
    Names
    18 kDa antrum mucosa protein
    BRICHOS domain containing 1

    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_019617.4 → NP_062563.4  gastrokine-1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC114802
      Consensus CDS
      CCDS1891.3
      UniProtKB/Swiss-Prot
      Q8IUA9, Q9NS71
      UniProtKB/TrEMBL
      A0A8I5KHR1, Q53YU7
      Related
      ENSP00000367172.3, ENST00000377938.4
      Conserved Domains (1) summary
      smart01039
      Location:54 → 150
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      68974636..68980976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68987051..68993391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS71.4 GenPept UniProtKB/Swiss-Prot:Q9NS71

    Gene LinkOut

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

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