GKN1 gastrokine 1 [Homo sapiens (human)] - Gene

Summary

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

Location:: 2p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (68974636..68980976)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (68987051..68993391)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (69201768..69208108)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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).
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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