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This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
KRT17 (Keratin 17) is a Protein Coding gene. Diseases associated with KRT17 include Steatocystoma Multiplex and Pachyonychia Congenita 2. 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 MHC class II receptor activity. An important paralog of this gene is KRT14.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IEA | -- |
GO:0045111 | intermediate filament cytoskeleton | IDA | -- |
GO:0071944 | cell periphery | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytoskeletal Signaling | ||
2 | Relaxin signaling pathway | ||
3 | Staphylococcus aureus infection | ||
4 | Developmental Biology | ||
5 | Keratinization |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002009 | morphogenesis of an epithelium | IEA | -- |
GO:0030307 | positive regulation of cell growth | IEA | -- |
GO:0031069 | hair follicle morphogenesis | IEA,ISS | -- |
GO:0031424 | keratinization | IEA,TAS | -- |
GO:0045109 | intermediate filament organization | 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 | KRT17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KRT17 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Krt17 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Krt17 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KRT17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KRT17 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KRT17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KRT14 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100490897 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | wu:fb17f05 30 |
|
||
-- 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712854 | Benign: not provided | 41,622,361(-) | G/A | SYNONYMOUS_VARIANT | |
713212 | Benign: not provided | 41,624,191(-) | C/T | MISSENSE_VARIANT | |
713582 | Likely Benign: not provided | 41,622,459(-) | G/A | SYNONYMOUS_VARIANT | |
719519 | Benign: not provided | 41,621,023(-) | C/T | SYNONYMOUS_VARIANT | |
720512 | Likely Benign: not provided | 41,624,372(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758690 | CNV | gain+loss | 17122850 |
esv34903 | CNV | gain | 17911159 |
esv3640591 | CNV | gain | 21293372 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv575040 | CNV | gain | 21841781 |
nsv827992 | CNV | gain | 20364138 |
nsv962326 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
steatocystoma multiplex |
|
|
pachyonychia congenita 2 |
|
|
pachyonychia congenita 1 |
|
|
nail disorder, nonsyndromic congenital, 4 |
|
|
keratoacanthoma |
|