KRT18 keratin 18 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000012.12 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71455 (e-PCR)
- UniSTS:34821

PMC17321P1 (e-PCR)
- UniSTS:271636

STS-N95819 (e-PCR)
- UniSTS:81461

SHGC-11808 (e-PCR)
- UniSTS:27701

G66074 (e-PCR)
- UniSTS:230065

D12S764 (e-PCR)
- UniSTS:148915

G66248 (e-PCR)
- UniSTS:230089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables cadherin binding involved in cell-cell adhesion	HDA more info	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 more info	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 more info	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

NG_008351.1 RefSeqGene

Range

5248..9036

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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