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The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]
KRT20 (Keratin 20) is a Protein Coding gene. Diseases associated with KRT20 include Merkel Cell Carcinoma and Signet Ring Cell Adenocarcinoma. Among its related pathways are Relaxin signaling pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT14.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | NAS | 8359595 |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 10973561 |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | NAS | 8359595 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytoskeletal Signaling | ||
2 | Relaxin signaling pathway | ||
3 | Staphylococcus aureus infection | ||
4 | Developmental Biology | ||
5 | Keratinization |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0009267 | cellular response to starvation | IEA | -- |
GO:0031424 | keratinization | TAS | -- |
GO:0045109 | intermediate filament organization | IEA,IMP | 12857878 |
GO:0050708 | regulation of protein secretion | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRT20 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KRT20 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Krt20 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Krt20 30 |
|
||
Dog (Canis familiaris) |
Mammalia | KRT20 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KRT20 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | KRT20 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | zgc:92061 31 |
|
ManyToMany | |
cyt1l 31 |
|
ManyToMany | |||
wu:fb17f05 31 |
|
ManyToMany | |||
cyt1 31 |
|
ManyToMany | |||
zgc:109868 31 |
|
ManyToMany | |||
krt17 31 |
|
ManyToMany | |||
zgc:153629 31 |
|
ManyToMany | |||
krt15 31 |
|
ManyToMany | |||
zgc:92035 31 |
|
ManyToMany | |||
krt1-19d 31 |
|
ManyToMany | |||
zgc:136902 31 |
|
ManyToMany | |||
si:dkeyp-113d7.4 31 |
|
ManyToMany | |||
zgc:92533 31 |
|
ManyToMany | |||
BX469912.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711187 | Benign: not provided | 40,878,150(-) | G/A | SYNONYMOUS_VARIANT | |
713644 | Likely Benign: not provided | 40,880,765(-) | T/C | MISSENSE_VARIANT | |
755295 | Likely Benign: not provided | 40,880,211(-) | A/C | SYNONYMOUS_VARIANT | |
764910 | Likely Benign: not provided | 40,878,321(-) | G/A | SYNONYMOUS_VARIANT | |
777163 | Benign: not provided | 40,878,290(-) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1146669 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
merkel cell carcinoma |
|
|
signet ring cell adenocarcinoma |
|
|
gastrointestinal carcinoma |
|
|
neuroendocrine carcinoma |
|
|
infiltrative basal cell carcinoma |
|
|