Gene: KRT18

Basic information

Tag Content
Uniprot ID P05783; Q53G38; Q5U0N8; Q9BW26;
Entrez ID 3875
Genbank protein ID AAH04253.1; AAX07828.1; CAA31377.1; AAH72017.1; CAA31369.1; CAA31375.1; AAH08636.1; AAH20982.1; AAH00698.1; AAH00180.1; AAV38219.1; AAA59461.1; BAD96813.1;
Genbank nucleotide ID NM_000224.2; NM_199187.1;
Ensembl protein ID ENSP00000373487; ENSP00000373489;
Ensembl nucleotide ID ENSG00000111057
Gene name Keratin, type I cytoskeletal 18
Gene symbol KRT18
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 28232668
Functional description 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.
Sequence
MSFTTRSTFS TNYRSLGSVQ APSYGARPVS SAASVYAGAG GSGSRISVSR STSFRGGMGS 60
GGLATGIAGG LAGMGGIQNE KETMQSLNDR LASYLDRVRS LETENRRLES KIREHLEKKG 120
PQVRDWSHYF KIIEDLRAQI FANTVDNARI VLQIDNARLA ADDFRVKYET ELAMRQSVEN 180
DIHGLRKVID DTNITRLQLE TEIEALKEEL LFMKKNHEEE VKGLQAQIAS SGLTVEVDAP 240
KSQDLAKIMA DIRAQYDELA RKNREELDKY WSQQIEESTT VVTTQSAEVG AAETTLTELR 300
RTVQSLEIDL DSMRNLKASL ENSLREVEAR YALQMEQLNG ILLHLESELA QTRAEGQRQA 360
QEYEALLNIK VKLEAEIATY RRLLEDGEDF NLGDALDSSN SMQTIQKTTT RRIVDGKVVS 420
ETNDTKVLRH

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologKRT18506480F6S1Q0Bos taurusPredictionMore>>
1:1 orthologKRT183875P05783Homo sapiensPublicationMore>>
1:1 orthologKrt1816668P05784Mus musculusPredictionMore>>
1:1 orthologKRT18451923H2Q609Pan troglodytesPredictionMore>>
1:1 orthologA0A4X1WBK2Sus scrofaPredictionMore>>
1:1 orthologKrt18294853Q5BJY9Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
KRT18rs3741442A>GGWAS28232668

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003723 RNA bindingHDA
GO:0005198 structural molecule activityIEA
GO:0005515 protein bindingIPI
GO:0097110 scaffold protein bindingIPI
GO:0098641 cadherin binding involved in cell-cell adhesionHDA

GO:Biological Process

GO ID GO Term Evidence
GO:0007049 cell cycleIEA
GO:0009653 anatomical structure morphogenesisTAS
GO:0016032 viral processIEA
GO:0031424 keratinizationTAS
GO:0033209 tumor necrosis factor-mediated signaling pathwayIEA
GO:0043000 Golgi to plasma membrane CFTR protein transportIDA
GO:0043066 negative regulation of apoptotic processIDA
GO:0045104 intermediate filament cytoskeleton organizationIDA
GO:0070268 cornificationTAS
GO:0097191 extrinsic apoptotic signaling pathwayIEA
GO:0097284 hepatocyte apoptotic processIEA
GO:0098609 cell-cell adhesionIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005730 nucleolusIEA
GO:0005737 cytoplasmIDA
GO:0005815 microtubule organizing centerIDA
GO:0005829 cytosolIDA
GO:0005829 cytosolTAS
GO:0005882 intermediate filamentIDA
GO:0005912 adherens junctionHDA
GO:0034451 centriolar satelliteIDA
GO:0045095 keratin filamentIDA
GO:0048471 perinuclear region of cytoplasmIEA
GO:0070062 extracellular exosomeHDA
GO:0071944 cell peripheryIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1266738 Developmental BiologyTAS
R-HSA-6805567 KeratinizationTAS
R-HSA-6809371 Formation of the cornified envelopeTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0131 Cell cycle
KW-0175 Coiled coil
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0945 Host-virus interaction
KW-0403 Intermediate filament
KW-1017 Isopeptide bond
KW-0416 Keratin
KW-0488 Methylation
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR027695 Keratin-18
IPR002957 Keratin_I

PROSITE

PROSITE ID PROSITE Term
PS00226 IF_ROD_1
PS51842 IF_ROD_2

Pfam

Pfam ID Pfam Term
PF00038 Filament

Protein-protein interaction

Protein-miRNA interaction