Human Gene KRT18 (uc001sbe.3) Description and Page Index
  Description: Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.
RefSeq Summary (NM_199187): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:53,342,655-53,346,685 Size: 4,031 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr12:53,342,958-53,346,626 Size: 3,669 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:53,342,655-53,346,685)mRNA (may differ from genome)Protein (430 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 18; AltName: Full=Cell proliferation-inducing gene 46 protein; AltName: Full=Cytokeratin-18; Short=CK-18; AltName: Full=Keratin-18; Short=K18;
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.
SUBUNIT: 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, HCV core protein and mutated CFTR. Interacts with YWHAE, YWHAH and YWHAZ only when phosphorylated. Interacts with DNAJB6, TCHP and TRADD.
INTERACTION: O75190:DNAJB6; NbExp=6; IntAct=EBI-297888, EBI-1053164; Q9Y6K9:IKBKG; NbExp=3; IntAct=EBI-297888, EBI-81279; P05787:KRT8; NbExp=8; IntAct=EBI-297888, EBI-297852; Q15628:TRADD; NbExp=11; IntAct=EBI-297888, EBI-359215;
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus, nucleolus.
TISSUE SPECIFICITY: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma.
INDUCTION: By IL6/interleukin-6.
PTM: Phosphorylation at Ser-34 increases during mitosis. Hyperphosphorylated at Ser-53 in diseased cirrhosis liver. Phosphorylation increases by IL-6.
PTM: Proteolytically cleaved by caspases during epithelial cell apoptosis. Cleavage occurs at Asp-238 by either caspase-3, caspase-6 or caspase-7.
PTM: O-GlcNAcylation increases solubility, and decreases stability by inducing proteasomal degradation.
DISEASE: Defects in KRT18 are a cause of cirrhosis (CIRRH) [MIM:215600].
MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KRT18
CDC HuGE Published Literature: KRT18

-  MalaCards Disease Associations
  MalaCards Gene Search: KRT18
Diseases sorted by gene-association score: cirrhosis, cryptogenic* (619), nonalcoholic steatohepatitis (31), epithelioid trophoblastic tumor (24), proliferating trichilemmal cyst (13), neurenteric cyst (13), lymphoepithelioma-like carcinoma (13), legionnaire disease (12), transitional papilloma (11), schneiderian carcinoma (10), cutaneous adenocystic carcinoma (10), metanephric adenoma (10), lung giant cell carcinoma (10), myoepithelial carcinoma (9), liver disease (9), gallbladder sarcoma (9), pleomorphic carcinoma (9), ameloblastoma (9), transitional cell carcinoma (8), cervical clear cell adenocarcinoma (8), microglandular adenosis (8), chromophobe renal cell carcinoma (8), warthin tumor (8), papillary ependymoma (8), gastric leiomyoma (7), ovarian lymphoma (6), pineal gland cancer (6), primary cutaneous amyloidosis (6), adenosquamous carcinoma (6), viral hepatitis (6), odontoma (6), seminal vesicle tumor (5), cholecystitis (5), mammary paget's disease (5), mucinous tubular and spindle renal cell carcinoma (5), intraneural perineurioma (5), ovarian brenner tumor (4), retinal hemangioblastoma (4), trophoblastic neoplasm (4), nephrogenic adenofibroma (4), lung cancer (3), prostate cancer (3), hepatocellular carcinoma (2), breast cancer (2), colorectal cancer (2), bladder cancer, somatic (2), cryptorchidism (2), eye disease (1), bardet-biedl syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 221.03 RPKM in Colon - Transverse
Total median expression: 2330.36 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.4069-0.325 Picture PostScript Text
3' UTR -11.7059-0.198 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR002957 - Keratin_I

Pfam Domains:
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on P05783
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0097110 scaffold protein binding
GO:0098641 cadherin binding involved in cell-cell adhesion

Biological Process:
GO:0007049 cell cycle
GO:0009653 anatomical structure morphogenesis
GO:0016032 viral process
GO:0031424 keratinization
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0043000 Golgi to plasma membrane CFTR protein transport
GO:0043066 negative regulation of apoptotic process
GO:0045104 intermediate filament cytoskeleton organization
GO:0070268 cornification
GO:0097191 extrinsic apoptotic signaling pathway
GO:0097284 hepatocyte apoptotic process
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0005913 cell-cell adherens junction
GO:0034451 centriolar satellite
GO:0045095 keratin filament
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0071944 cell periphery

-  Descriptions from all associated GenBank mRNAs
  AK308506 - Homo sapiens cDNA, FLJ98547.
LF210463 - JP 2014500723-A/17966: Polycomb-Associated Non-Coding RNAs.
AK313988 - Homo sapiens cDNA, FLJ94640, highly similar to Homo sapiens keratin 18 (KRT18), mRNA.
AK223093 - Homo sapiens mRNA for keratin 18 variant, clone: KAT03780.
AK129587 - Homo sapiens cDNA FLJ26076 fis, clone RCT02495, highly similar to Keratin, type I cytoskeletal 18.
BC020982 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:9716 IMAGE:3850724), complete cds.
X12881 - Human mRNA for cytokeratin 18.
BC072017 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:88728 IMAGE:6251574), complete cds.
BC000698 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:1549 IMAGE:3349315), complete cds.
BC000180 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:5055 IMAGE:2984862), complete cds.
BC008636 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:9348 IMAGE:3463780), complete cds.
BC004253 - Homo sapiens keratin 18, mRNA (cDNA clone MGC:10564 IMAGE:3631540), complete cds.
AY762101 - Homo sapiens cell proliferation-inducing protein 46 mRNA, complete cds.
KJ897113 - Synthetic construct Homo sapiens clone ccsbBroadEn_06507 KRT18 gene, encodes complete protein.
KJ897114 - Synthetic construct Homo sapiens clone ccsbBroadEn_06508 KRT18 gene, encodes complete protein.
KR709747 - Synthetic construct Homo sapiens clone CCSBHm_00005674 KRT18 (KRT18) mRNA, encodes complete protein.
KR709748 - Synthetic construct Homo sapiens clone CCSBHm_00005675 KRT18 (KRT18) mRNA, encodes complete protein.
KR709749 - Synthetic construct Homo sapiens clone CCSBHm_00005680 KRT18 (KRT18) mRNA, encodes complete protein.
KR709750 - Synthetic construct Homo sapiens clone CCSBHm_00005683 KRT18 (KRT18) mRNA, encodes complete protein.
AB528484 - Synthetic construct DNA, clone: pF1KB6602, Homo sapiens KRT18P19 gene for Keratin, type I cytoskeletal 18, without stop codon, in Flexi system.
DQ893715 - Synthetic construct Homo sapiens clone IMAGE:100008175; FLH167528.01L; RZPDo839B1189D keratin 18 (KRT18) gene, encodes complete protein.
DQ890555 - Synthetic construct clone IMAGE:100003185; FLH167532.01X; RZPDo839B1190D keratin 18 (KRT18) gene, encodes complete protein.
BT019412 - Homo sapiens keratin 18 mRNA, complete cds.
X12883 - Human mRNA for cytokeratin 18.
BC009754 - Homo sapiens keratin 18, mRNA (cDNA clone IMAGE:3835032), partial cds.
X12876 - Human mRNA fragment for cytokeratin 18.
MA446040 - JP 2018138019-A/17966: Polycomb-Associated Non-Coding RNAs.
LF212650 - JP 2014500723-A/20153: Polycomb-Associated Non-Coding RNAs.
JD023023 - Sequence 4047 from Patent EP1572962.
JD033049 - Sequence 14073 from Patent EP1572962.
JD023452 - Sequence 4476 from Patent EP1572962.
JD021523 - Sequence 2547 from Patent EP1572962.
JD027904 - Sequence 8928 from Patent EP1572962.
JD023833 - Sequence 4857 from Patent EP1572962.
JD024399 - Sequence 5423 from Patent EP1572962.
JD026233 - Sequence 7257 from Patent EP1572962.
JD035340 - Sequence 16364 from Patent EP1572962.
JD035038 - Sequence 16062 from Patent EP1572962.
FW364530 - Oligonucleotides for modulating target RNA activity.
HI964850 - Sequence 135 from Patent WO2010139812.
HI966485 - Sequence 805 from Patent WO2010139811.
HI967351 - Sequence 805 from Patent WO2010139810.
HV595442 - JP 2010539959-A/823: Micromirs.
HV938949 - JP 2011519579-A/1777: Oligonucleotides Containing Arabinose Modified Nucleotides For Treating Inflammation and Neoplastic Cell Proliferation.
HZ074482 - JP 2013535982-A/573: Single-Stranded RNAi Agents Containing an Internal, Non-Nucleic Acid Spacer.
HZ083258 - JP 2015513906-A/615: Stem Cell Microparticles.
HZ157999 - JP 2015130862-A/823: Micromirs.
HZ186843 - JP 2015146814-A/592: Oligonucleotides for modulating target RNA activity.
HZ437039 - JP 2015529450-A/615: Stem Cell Microparticles.
HZ482455 - JP 2015535430-A/2961: TERMINALLY MODIFIED RNA.
JA293250 - Sequence 8 from Patent WO2011014083.
JA400888 - Sequence 135 from Patent WO2011080318.
JA401866 - Sequence 135 from Patent WO2011080315.
JA402873 - Sequence 135 from Patent WO2011080316.
JA405504 - Sequence 135 from Patent EP2336353.
JA427154 - Sequence 487 from Patent WO2011072177.
JA429030 - Sequence 135 from Patent WO2011095623.
JA808546 - Sequence 18 from Patent WO2012083969.
JA821256 - Sequence 1777 from Patent EP2285961.
JB049932 - Sequence 19 from Patent WO2013020926.
JB074764 - Sequence 24 from Patent WO2012168448.
JB175358 - Sequence 390 from Patent WO2012101219.
JB620667 - Sequence 647 from Patent WO2013063544.
JC172243 - Sequence 615 from Patent WO2013150303.
JC515118 - Sequence 5371 from Patent WO2014113089.
JC573054 - Sequence 615 from Patent WO2014125276.
JC582742 - Sequence 615 from Patent WO2014125277.
JE954438 - Sequence 615 from Patent WO2015052526.
JE956191 - Sequence 615 from Patent WO2015052527.
LF137943 - JP 2016507550-A/615: Method of Producing Microparticles.
LF161395 - JP 2016513950-A/1461: Oligomers with improved off-target profile.
LF162908 - JP 2016513095-A/615: Stem Cell Microparticles and miRNA.
LF953660 - JP 2016534103-A/615: Stem Cell Microparticles and miRNA.
LG006005 - KR 1020150004822-A/615: STEM CELL MICROPARTICLES.
LG053701 - KR 1020150059168-A/615: STEM CELL MICROPARTICLES.
LG240940 - KR 1020160035087-A/615: STEM CELL MICROPARTICLES AND MIRNA.
LP727111 - Sequence 805 from Patent EP2883966.
LP819381 - Sequence 805 from Patent EP3296406.
LP939323 - Sequence 805 from Patent EP3184651.
LQ072706 - Sequence 3030 from Patent EP2964234.
LQ278472 - Sequence 11 from Patent WO2016066288.
LQ425407 - Sequence 8 from Patent EP3037550.
LQ441017 - Sequence 24 from Patent EP3029157.
LV471025 - JP 2016534036-A/615: Stem Cell Microparticles and miRNA.
LZ234200 - JP 2017184756-A/592: Oligonucleotides for modulating target RNA activity.
MS833989 - Sequence 135 from Patent EP3112479.
JD444547 - Sequence 425571 from Patent EP1572962.
JD101288 - Sequence 82312 from Patent EP1572962.
MA734091 - JP 2017140048-A/2961: TERMINALLY MODIFIED RNA.
LQ930989 - Sequence 3 from Patent WO2014187884.
MA448227 - JP 2018138019-A/20153: Polycomb-Associated Non-Coding RNAs.
MP129715 - Sequence 615 from Patent EP3470073.
MP162638 - Sequence 615 from Patent WO2019069093.
MP280727 - Sequence 147 from Patent WO2019111197.
MP283640 - Sequence 147 from Patent WO2019111198.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05130 - Pathogenic Escherichia coli infection

Reactome (by CSHL, EBI, and GO)

Protein P05783 (Reactome details) participates in the following event(s):

R-HSA-6805546 Keratin type I binds keratin type II
R-HSA-6805573 Keratin type I/type II heterodimers form tetramers
R-HSA-6806613 Keratin tetramers bind to form unit length filaments
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CYK18, K1C18_HUMAN, NM_199187, NP_954657, P05783, PIG46, Q53G38, Q5U0N8, Q9BW26
UCSC ID: uc001sbe.3
RefSeq Accession: NM_199187
Protein: P05783 (aka K1C18_HUMAN)
CCDS: CCDS31809.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_199187.1
exon count: 8CDS single in 3' UTR: no RNA size: 1439
ORF size: 1293CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2770.50frame shift in genome: no % Coverage: 98.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.