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This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
KRT14 (Keratin 14) is a Protein Coding gene. Diseases associated with KRT14 include Epidermolysis Bullosa Simplex, Dowling-Meara Type and Epidermolysis Bullosa Simplex, Localized. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and keratin filament binding. An important paralog of this gene is KRT16.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 7525408 |
GO:0005515 | protein binding | IPI | 10852826 |
GO:1990254 | keratin filament binding | IPI | 20346438 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 11724817 |
GO:0005737 | cytoplasm | IEA,IDA | 11724817 |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IDA | 10852826 |
GO:0045095 | keratin filament | IDA | 7679677 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Relaxin signaling pathway | ||
2 | Staphylococcus aureus infection | ||
3 | Developmental Biology | ||
4 | Keratinization |
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|
|
5 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Keratin filaments
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007568 | aging | IDA | 21916889 |
GO:0008544 | epidermis development | TAS | 7525408 |
GO:0010043 | response to zinc ion | IEA | -- |
GO:0010212 | response to ionizing radiation | IEA | -- |
GO:0030855 | epithelial cell differentiation | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRT14 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KRT14 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Krt14 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KRT14 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Krt14 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | KRT14 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
669378 | Likely Benign: not provided | 41,586,753(-) | AGCCGCCCCCGAT/A | INFRAME_DELETION | |
711995 | Likely Benign: not provided | 41,583,306(-) | C/T | SYNONYMOUS_VARIANT | |
713211 | Benign: not provided | 41,584,374(-) | G/C | SYNONYMOUS_VARIANT | |
721880 | Benign: not provided | 41,586,781(-) | G/A | SYNONYMOUS_VARIANT | |
722105 | Benign: not provided | 41,584,995(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv22954 | CNV | loss | 19812545 |
esv2758690 | CNV | gain+loss | 17122850 |
esv34903 | CNV | gain | 17911159 |
esv3640590 | CNV | gain | 21293372 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv2053 | CNV | insertion | 18451855 |
nsv471400 | CNV | gain | 19718026 |
nsv514846 | CNV | gain | 21397061 |
nsv827992 | CNV | gain | 20364138 |
nsv827993 | CNV | loss | 20364138 |
nsv9556 | CNV | gain | 18304495 |
nsv9557 | CNV | loss | 18304495 |
nsv960490 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epidermolysis bullosa simplex, dowling-meara type |
|
|
epidermolysis bullosa simplex, localized |
|
|
epidermolysis bullosa simplex, autosomal recessive 1 |
|
|
naegeli-franceschetti-jadassohn syndrome |
|
|
dermatopathia pigmentosa reticularis |
|