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The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]
KRT16 (Keratin 16) is a Protein Coding gene. Diseases associated with KRT16 include Pachyonychia Congenita 1 and Palmoplantar Keratoderma, Nonepidermolytic, Focal 1. 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 structural constituent of cytoskeleton. An important paralog of this gene is KRT14.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH17J041612 | Promoter/Enhancer | 1.1 | EPDnew Ensembl ENCODE | 600.7 | +3.0 | 2999 | 1.4 | SMARCC1 CEBPB CHD2 JUND MAZ ZFHX2 DPF2 TBP FOS SMARCE1 | KRT16 piR-61101-283 KRT14 | |
GH17J041615 | Enhancer | 0.7 | Ensembl ENCODE | 600.7 | +0.4 | 356 | 0.7 | ZIC2 SP2 RFX1 ZKSCAN1 ZBTB17 CTCF KLF17 HIC1 ZNF687 ZNF579 | KRT16 piR-61101-283 KRT14 | |
GH17J041616 | Enhancer | 0.3 | Ensembl | 600.7 | -0.7 | -702 | 0.4 | TEAD4 TEAD2 | KRT16 KRT17 | |
GH17J041614 | Enhancer | 0.3 | Ensembl | 600.7 | +1.0 | 998 | 0.2 | ZIC2 | KRT16 piR-61101-283 KRT14 | |
GH17J041578 | Promoter/Enhancer | 1.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 13 | +31.7 | 31705 | 10.6 | CTCF PRDM10 JUND ZNF143 PKNOX1 ZNF24 REST RAD21 IRF2 ZNF740 | KRT9 KRT14 TTC25 KRT16 JUP KRT36 KRT15 KRT17 KRT13 KRT19 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | IEA,NAS | 2451124 |
GO:0005515 | protein binding | IPI | 15731013 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IDA | 20403371 |
GO:0005882 | intermediate filament | IEA,NAS | 2451124 |
GO:0070062 | extracellular exosome | HDA | 19199708 |
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:0002009 | morphogenesis of an epithelium | IEA,ISS | -- |
GO:0006954 | inflammatory response | IEA,ISS | -- |
GO:0007010 | cytoskeleton organization | NAS | 2451124 |
GO:0007568 | aging | IDA | 21916889 |
GO:0030216 | keratinocyte differentiation | IEA,ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRT16 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KRT16 30 |
|
||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Krt16 30 |
|
||
Cow (Bos Taurus) |
Mammalia | KRT16 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Krt16 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | KRT14 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | Dr.25556 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711188 | Likely Benign: not provided | 41,612,351(-) | AG/A | FRAMESHIFT_VARIANT | |
719518 | Likely Benign: not provided | 41,612,482(-) | G/T | SYNONYMOUS_VARIANT | |
726380 | Likely Benign: not provided | 41,612,635(-) | G/T | NONSENSE | |
728097 | Likely Benign: not provided | 41,611,370(-) | G/A | MISSENSE_VARIANT | |
730420 | Benign: not provided | 41,612,443(-) | 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 |
---|---|---|
pachyonychia congenita 1 |
|
|
palmoplantar keratoderma, nonepidermolytic, focal 1 |
|
|
palmoplantar keratoderma, epidermolytic |
|
|
palmoplantar keratoderma, nonepidermolytic |
|
|
contact dermatitis |
|