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KRT18 keratin 18 [ Homo sapiens (human) ]

Gene ID: 3875, updated on 3-Nov-2024

Summary

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Official Symbol
KRT18provided by HGNC
Official Full Name
keratin 18provided by HGNC
Primary source
HGNC:HGNC:6430
See related
Ensembl:ENSG00000111057 MIM:148070; AllianceGenome:HGNC:6430
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
K18; CK-18; CYK18
Summary
KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 258.0), colon (RPKM 230.1) and 15 other tissues See more
Orthologs
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Genomic context

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See KRT18 in Genome Data Viewer
Location:
12q13.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52948855..52952906)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52913414..52917465)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53342639..53346690)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53287796-53287974 Neighboring gene Sharpr-MPRA regulatory region 10212 Neighboring gene ribosomal protein L7 pseudogene 41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53292699-53293198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53295217-53296061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4486 Neighboring gene microRNA 9898 Neighboring gene keratin 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53311823-53312324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53312325-53312824 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53337539-53338133 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:53339323-53339918 Neighboring gene Sharpr-MPRA regulatory region 15494 Neighboring gene KRT18 locus control region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53358683-53359326 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365007-53365934 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53365935-53366860 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53397033-53397195 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53399611-53400354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53400355-53401098 Neighboring gene eukaryotic translation initiation factor 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene TNS2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene tensin 2

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. The prognostic importance of changing serum M30 and M65 values after chemotherapy in patients with advanced-stage non-small-cell lung cancer. Ustaalioglu BB, et al. Med Oncol, 2013 Jun. PMID 23536001
  2. Cytokeratin 18 regulates the transcription and alternative splicing of apoptotic‑related genes and pathways in HeLa cells. Cheng Y, et al. Oncol Rep, 2019 Jul. PMID 31115582, Free PMC Article
  3. Diagnostic value of serum cytokeratin-18 in children with chronic liver disease. Shalby MM, et al. J Paediatr Child Health, 2020 Jan. PMID 31054236
  4. Epithelial cell death markers in bronchoalveolar lavage correlate with chronic lung allograft dysfunction subtypes and survival in lung transplant recipients-a single-center retrospective cohort study. Levy L, et al. Transpl Int, 2019 Sep. PMID 31002407
  5. The prognostic potential of keratin 18 in breast cancer associated with tumor dedifferentiation, and the loss of estrogen and progesterone receptors. Ha SA, et al. Cancer Biomark, 2011. PMID 22699783

See all (411) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Serum Level of Cytokeratin 18 (M65) as a Prognostic Marker of High Cardiovascular Disease Risk in Individuals with Non-Alcoholic Fatty Liver Disease.
    Title: Serum Level of Cytokeratin 18 (M65) as a Prognostic Marker of High Cardiovascular Disease Risk in Individuals with Non-Alcoholic Fatty Liver Disease.
  2. Markers of cell death predict therapy response in patients with cirrhosis and hepatorenal syndrome.
    Title: Markers of cell death predict therapy response in patients with cirrhosis and hepatorenal syndrome.
  3. Circulating caspase-cleaved cytokeratin 18 correlates with tumour burden and response to therapy in patients with colorectal cancer liver metastasis.
    Title: Circulating caspase-cleaved cytokeratin 18 correlates with tumour burden and response to therapy in patients with colorectal cancer liver metastasis.
  4. A new detection system for serum fragmented cytokeratin 18 as a biomarker reflecting histologic activities of human nonalcoholic steatohepatitis.
    Title: A new detection system for serum fragmented cytokeratin 18 as a biomarker reflecting histologic activities of human nonalcoholic steatohepatitis.
  5. LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating N6-methyladenosine modification of KRT18 mRNA in gastric cancer.
    Title: LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating N6-methyladenosine modification of KRT18 mRNA in gastric cancer.
  6. Serum caspase-cleaved cytokeratin-18 fragment as a prognostic biomarker in hematological patients with febrile neutropenia.
    Title: Serum caspase-cleaved cytokeratin-18 fragment as a prognostic biomarker in hematological patients with febrile neutropenia.
  7. Generation of Rat Monoclonal Antibody for Cytokeratin 18 by Immunization of Three-Dimensional-Cultured Cancer Cells.
    Title: Generation of Rat Monoclonal Antibody for Cytokeratin 18 by Immunization of Three-Dimensional-Cultured Cancer Cells.
  8. Downregulation of cytokeratin 18 induces cellular partial EMT and stemness through increasing EpCAM expression in breast cancer.
    Title: Downregulation of cytokeratin 18 induces cellular partial EMT and stemness through increasing EpCAM expression in breast cancer.
  9. Cytokeratin 18 can help predict liver fibrosis in HCV infected patients with type 2 diabetes mellitus.
    Title: Cytokeratin 18 can help predict liver fibrosis in HCV infected patients with type 2 diabetes mellitus.
  10. Predictive value of cytokeratin-18 fragment levels for diagnosing steatohepatitis in patients with nonalcoholic fatty liver disease.
    Title: Predictive value of cytokeratin-18 fragment levels for diagnosing steatohepatitis in patients with nonalcoholic fatty liver disease.
Submit: New GeneRIF Correction See all GeneRIFs (195)

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

Associated conditions

Description Tests
Cirrhosis, familial
MedGen: C1861556 OMIM: 215600 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables cadherin binding involved in cell-cell adhesion HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in hepatocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermediate filament cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in tumor necrosis factor-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in adherens junction HDA PubMed 
located_in cell periphery IEA
Inferred from Electronic Annotation
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in intermediate filament IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in keratin filament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in keratin filament IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in microtubule organizing center IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin, type I cytoskeletal 18
Names
cell proliferation-inducing gene 46 protein
cytokeratin 18
keratin 18, type I

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.

Genomic

  1. NG_008351.1 RefSeqGene

    Range
    5248..9036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000224.3 → NP_000215.1  keratin, type I cytoskeletal 18

    See identical proteins and their annotated locations for NP_000215.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC107016, CD106591, X12881
    Consensus CDS
    CCDS31809.1
    UniProtKB/Swiss-Prot
    P05783, Q53G38, Q5U0N8, Q9BW26
    UniProtKB/TrEMBL
    B2RA03
    Related
    ENSP00000373487.3, ENST00000388835.4
    Conserved Domains (1) summary
    pfam00038
    Location:79 → 391
    Filament; Intermediate filament protein

  2. NM_199187.2 → NP_954657.1  keratin, type I cytoskeletal 18

    See identical proteins and their annotated locations for NP_954657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC107016, BG753529, CD106591, X12881
    Consensus CDS
    CCDS31809.1
    UniProtKB/Swiss-Prot
    P05783, Q53G38, Q5U0N8, Q9BW26
    UniProtKB/TrEMBL
    B2RA03
    Related
    ENSP00000373489.2, ENST00000388837.6
    Conserved Domains (1) summary
    pfam00038
    Location:79 → 391
    Filament; Intermediate filament protein

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52948855..52952906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52913414..52917465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05783.2 GenPept UniProtKB/Swiss-Prot:P05783

Gene LinkOut

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

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