| Tag | Content |
|---|---|
| Uniprot ID | P05784; Q3TIX1; Q3TJH6; Q3TJW7; Q61766; |
| Entrez ID | 16668 |
| Genbank protein ID | BAE26424.1; BAE39725.1; CAA68365.1; BAE39378.1; AAA39373.1; BAE39519.1; AAA37552.1; BAE39232.1; AAH89022.1; AAA39390.1; BAE39553.1; |
| Genbank nucleotide ID | NM_010664.2 |
| Ensembl protein ID | ENSMUSP00000023803 |
| Ensembl nucleotide ID | ENSMUSG00000023043 |
| Gene name | Keratin, type I cytoskeletal 18 |
| Gene symbol | Krt18 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection. |
| Sequence | MSFTTRSTTF STNYRSLGSV RTPSQRVRPA SSAASVYAGA GGSGSRISVS RSVWGGSVGS 60 AGLAGMGGIQ TEKETMQDLN DRLASYLDKV KSLETENRRL ESKIREHLEK KGPQGVRDWG 120 HYFKIIEDLR AQIFANSVDN ARIVLQIDNA RLAADDFRVK YETELAMRQS VESDIHGLRK 180 VVDDTNITRL QLETEIEALK EELLFMKKNH EEEVQGLEAQ IASSGLTVEV DAPKSQDLSK 240 IMADIRAQYE ALAQKNREEL DKYWSQQIEE STTVVTTKSA EIRDAETTLT ELRRTLQTLE 300 IDLDSMKNQN INLENSLGDV EARYKAQMEQ LNGVLLHLES ELAQTRAEGQ RQAQEYEALL 360 NIKVKLEAEI ATYRRLLEDG EDFSLNDALD SSNSMQTVQK TTTRKIVDGR VVSETNDTRV 420 LRH 423 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | KRT18 | 506480 | F6S1Q0 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | KRT18 | 3875 | P05783 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Krt18 | 16668 | P05784 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | KRT18 | 451923 | H2Q609 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | A0A4X1WBK2 | Sus scrofa | Prediction | More>> | ||||
| 1:1 ortholog | Krt18 | 294853 | Q5BJY9 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| KRT18 | rs3741442A>G | GWAS | 28232668 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005198 | structural molecule activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0097110 | scaffold protein binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0033209 | tumor necrosis factor-mediated signaling pathway | IGI |
| GO:0043000 | Golgi to plasma membrane CFTR protein transport | ISO |
| GO:0043066 | negative regulation of apoptotic process | ISO |
| GO:0045104 | intermediate filament cytoskeleton organization | ISO |
| GO:0097191 | extrinsic apoptotic signaling pathway | IMP |
| GO:0097284 | hepatocyte apoptotic process | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005730 | nucleolus | IEA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005815 | microtubule organizing center | ISO |
| GO:0005829 | cytosol | ISO |
| GO:0005882 | intermediate filament | ISO |
| GO:0005882 | intermediate filament | IDA |
| GO:0016363 | nuclear matrix | IEA |
| GO:0034451 | centriolar satellite | ISO |
| GO:0045095 | keratin filament | ISO |
| GO:0045095 | keratin filament | IDA |
| GO:0071944 | cell periphery | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1266738 | Developmental Biology | IEA |
| R-MMU-6805567 | Keratinization | IEA |
| R-MMU-6809371 | Formation of the cornified envelope | IEA |
| Pfam ID | Pfam Term |
|---|---|
| PF00038 | Filament |