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 s... See more...

Aliases for KRT18 Gene

Aliases for KRT18 Gene

  • Keratin 18 2 3 5
  • Cell Proliferation-Inducing Gene 46 Protein 3 4
  • Keratin, Type I Cytoskeletal 18 3 4
  • Keratin 18, Type I 2 3
  • CK-18 3 4
  • CYK18 3 4
  • K18 3 4
  • Cytokeratin 18 3
  • Cytokeratin-18 4
  • Keratin-18 4

External Ids for KRT18 Gene

Previous GeneCards Identifiers for KRT18 Gene

  • GC12M053340
  • GC12M053554
  • GC12P053059
  • GC12P051630
  • GC12P051631
  • GC12P051632
  • GC12P053343
  • GC12P050386

Summaries for KRT18 Gene

Entrez Gene Summary for KRT18 Gene

  • 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]

CIViC Summary for KRT18 Gene

GeneCards Summary for KRT18 Gene

KRT18 (Keratin 18) is a Protein Coding gene. Diseases associated with KRT18 include Cryptogenic Cirrhosis and Epithelioid Trophoblastic Tumor. Among its related pathways are Developmental Biology and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include scaffold protein binding. An important paralog of this gene is KRT14.

UniProtKB/Swiss-Prot Summary for KRT18 Gene

  • Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection.

Gene Wiki entry for KRT18 Gene

Additional gene information for KRT18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT18 Gene

Genomics for KRT18 Gene

GeneHancer (GH) Regulatory Elements for KRT18 Gene

Promoters and enhancers for KRT18 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT18 gene promoter:
  • GATA-1
  • STAT3

Genomic Locations for KRT18 Gene

Genomic Locations for KRT18 Gene
chr12:52,948,871-52,952,906
(GRCh38/hg38)
Size:
4,036 bases
Orientation:
Plus strand
chr12:53,342,655-53,346,685
(GRCh37/hg19)
Size:
4,031 bases
Orientation:
Plus strand

Genomic View for KRT18 Gene

Genes around KRT18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT18 Gene

Proteins for KRT18 Gene

  • Protein details for KRT18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05783-K1C18_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 18
    Protein Accession:
    P05783
    Secondary Accessions:
    • Q53G38
    • Q5U0N8
    • Q9BW26

    Protein attributes for KRT18 Gene

    Size:
    430 amino acids
    Molecular mass:
    48058 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. KRT18 associates with KRT8. Interacts with the thrombin-antithrombin complex (By similarity). Interacts with PNN and mutated CFTR. Interacts with YWHAE, YWHAH and YWHAZ only when phosphorylated. Interacts with DNAJB6, TCHP and TRADD. Interacts with FAM83H (PubMed:23902688). Interacts with EPPK1 (By similarity).
    • (Microbial infection) Interacts with hepatitis C virus/HCV core protein.
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

neXtProt entry for KRT18 Gene

Post-translational modifications for KRT18 Gene

  • Phosphorylation at Ser-34 increases during mitosis. Hyperphosphorylated at Ser-53 in diseased cirrhosis liver. Phosphorylation increases by IL-6.
  • Proteolytically cleaved by caspases during epithelial cell apoptosis. Cleavage occurs at Asp-238 by either caspase-3, caspase-6 or caspase-7.
  • O-GlcNAcylation increases solubility, and decreases stability by inducing proteasomal degradation.
  • Glycosylation at Ser30, Ser31, Ser49, and Asn423
  • Ubiquitination at Lys81, Lys131, Lys167, and Lys247
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • K1C18_HUMAN (312)

Other Protein References for KRT18 Gene

Antibody Products

No data available for DME Specific Peptides for KRT18 Gene

Domains & Families for KRT18 Gene

Gene Families for KRT18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT18 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-18 (K1C18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05783

UniProtKB/Swiss-Prot:

K1C18_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT18: view

Function for KRT18 Gene

Molecular function for KRT18 Gene

UniProtKB/Swiss-Prot Function:
Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection.
UniProtKB/Swiss-Prot Induction:
By IL6/interleukin-6.
GENATLAS Biochemistry:
keratin 18,type I,early embryonic simple epithelia,dimerizing with KRT8,including a 3' locus control region KRT18-LCR

Phenotypes From GWAS Catalog for KRT18 Gene

Gene Ontology (GO) - Molecular Function for KRT18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10852826
GO:0097110 scaffold protein binding IPI 10852826
GO:0098641 cadherin binding involved in cell-cell adhesion HDA 25468996
genes like me logo Genes that share ontologies with KRT18: view
genes like me logo Genes that share phenotypes with KRT18: view

Human Phenotype Ontology for KRT18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT18 Gene

MGI Knock Outs for KRT18:

Animal Model Products

CRISPR Products

miRNA for KRT18 Gene

miRTarBase miRNAs that target KRT18

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT18

Clone Products

  • Addgene plasmids for KRT18

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT18 Gene

Localization for KRT18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT18 Gene

Cytoplasm, perinuclear region. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT18 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 3
extracellular 2
plasma membrane 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KRT18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA,IDA 16424149
GO:0005815 microtubule organizing center IDA 18000879
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KRT18: view

Pathways & Interactions for KRT18 Gene

genes like me logo Genes that share pathways with KRT18: view

Pathways by source for KRT18 Gene

2 Reactome pathways for KRT18 Gene
1 GeneGo (Thomson Reuters) pathway for KRT18 Gene
1 Qiagen pathway for KRT18 Gene
  • ILK Signaling
1 Cell Signaling Technology pathway for KRT18 Gene

SIGNOR curated interactions for KRT18 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for KRT18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0009653 anatomical structure morphogenesis TAS 2434380
GO:0016032 viral process IEA --
GO:0031424 keratinization TAS --
GO:0033209 tumor necrosis factor-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with KRT18: view

Drugs & Compounds for KRT18 Gene

(41) Drugs for KRT18 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(36) Additional Compounds for KRT18 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT18: view

Transcripts for KRT18 Gene

mRNA/cDNA for KRT18 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT18

Clone Products

  • Addgene plasmids for KRT18

Alternative Splicing Database (ASD) splice patterns (SP) for KRT18 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^ 10a · 10b
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: -

Relevant External Links for KRT18 Gene

GeneLoc Exon Structure for
KRT18
ECgene alternative splicing isoforms for
KRT18

Expression for KRT18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT18 Gene

This gene is overexpressed in Liver (x6.8), Pancreas (x6.7), and Colon - Transverse (x5.0).

Protein differential expression in normal tissues from HIPED for KRT18 Gene

This gene is overexpressed in Liver, secretome (19.8) and Salivary gland (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KRT18 Gene



Protein tissue co-expression partners for KRT18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT18 Gene:

KRT18

SOURCE GeneReport for Unigene cluster for KRT18 Gene:

Hs.406013

mRNA Expression by UniProt/SwissProt for KRT18 Gene:

P05783-K1C18_HUMAN
Tissue specificity: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma.

Evidence on tissue expression from TISSUES for KRT18 Gene

  • Intestine(5)
  • Liver(5)
  • Pancreas(5)
  • Lung(4.8)
  • Eye(4.4)
  • Skin(4.3)
  • Stomach(4.1)
  • Kidney(4)
  • Blood(3.1)
  • Gall bladder(2.4)
  • Heart(2.4)
  • Thyroid gland(2.4)
  • Muscle(2.3)
  • Bone marrow(2)
  • Spleen(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT18 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with KRT18: view

Orthologs for KRT18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KRT18 33 32
  • 99.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRT18 33 32
  • 89.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KRT18 33 32
  • 89.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Krt18 17 33 32
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia Krt18 32
  • 84.16 (n)
oppossum
(Monodelphis domestica)
Mammalia KRT18 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT18 33
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KRT18 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia krt18 32
  • 65.23 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:77517 32
  • 59.26 (n)
krt18 33 32
  • 52 (a)
OneToMany
KRT18 (2 of 3) 33
  • 52 (a)
OneToMany
KRT18 (3 of 3) 33
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11413 32
Species where no ortholog for KRT18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KRT18 Gene

ENSEMBL:
Gene Tree for KRT18 (if available)
TreeFam:
Gene Tree for KRT18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT18: view image

Paralogs for KRT18 Gene

Pseudogenes.org Pseudogenes for KRT18 Gene

genes like me logo Genes that share paralogs with KRT18: view

Variants for KRT18 Gene

Sequence variations from dbSNP and Humsavar for KRT18 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs200221269 not-provided, Hepatitis c virus, susceptibility to 52,949,307(+) G/C coding_sequence_variant, missense_variant
rs386834224 not-provided, Hepatitis c virus, susceptibility to 52,949,455(+) C/T coding_sequence_variant, synonymous_variant
rs386834225 not-provided, Hepatitis c virus, susceptibility to 52,952,779(+) C/G coding_sequence_variant, synonymous_variant
rs57354642 not-provided, not provided, Cirrhosis (CIRRH) [MIM:215600] 52,951,605(+) G/A coding_sequence_variant, missense_variant
rs57370769 not-provided, not provided, Cirrhosis (CIRRH) [MIM:215600] 52,952,188(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KRT18 Gene

Variant ID Type Subtype PubMed ID
nsv832416 CNV loss 17160897
nsv973068 CNV duplication 23825009

Variation tolerance for KRT18 Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT18 Gene

Human Gene Mutation Database (HGMD)
KRT18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT18

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT18 Gene

Disorders for KRT18 Gene

MalaCards: The human disease database

(53) MalaCards diseases for KRT18 Gene - From: HGMD, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cryptogenic cirrhosis
  • cirrhosis, cryptogenic
epithelioid trophoblastic tumor
  • trophoblastic tumor, epithelioid
proliferating trichilemmal cyst
  • proliferating pilar cyst
hepatitis c
  • chronic hepatitis c
hepatitis
  • hepatitis a
- elite association - COSMIC cancer census association via MalaCards
Search KRT18 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C18_HUMAN
  • Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269 PubMed:12724528, ECO:0000269 PubMed:9011570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KRT18: view

No data available for Genatlas for KRT18 Gene

Publications for KRT18 Gene

  1. Rescue of DeltaF508-CFTR (cystic fibrosis transmembrane conductance regulator) by curcumin: involvement of the keratin 18 network. (PMID: 16424149) Lipecka J … Davezac N (The Journal of pharmacology and experimental therapeutics 2006) 3 4 23 56
  2. Global proteomic approach unmasks involvement of keratins 8 and 18 in the delivery of cystic fibrosis transmembrane conductance regulator (CFTR)/deltaF508-CFTR to the plasma membrane. (PMID: 15529338) Davezac N … Edelman A (Proteomics 2004) 3 4 23 56
  3. Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. (PMID: 11684708) Inada H … Inagaki M (The Journal of cell biology 2001) 3 4 23 56
  4. Phosphorylation of human keratin 18 serine 33 regulates binding to 14-3-3 proteins. (PMID: 9524113) Ku NO … Omary MB (The EMBO journal 1998) 3 4 23 56
  5. Caspase cleavage of keratin 18 and reorganization of intermediate filaments during epithelial cell apoptosis. (PMID: 9298992) Caulín C … Oshima RG (The Journal of cell biology 1997) 3 4 23 56

Products for KRT18 Gene