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The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
KRT7 (Keratin 7) is a Protein Coding gene. Diseases associated with KRT7 include Pseudomyxoma Peritonei and Signet Ring Cell Adenocarcinoma. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11169732 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IEA,IDA | 2459129 |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IEA,NAS | 2415537 |
GO:0045095 | keratin filament | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytoskeletal Signaling | ||
2 | Developmental Biology | ||
3 | Keratinization |
.33
|
|
4 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Keratin filaments
.32
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016032 | viral process | IEA | -- |
GO:0031424 | keratinization | TAS | -- |
GO:0070268 | cornification | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRT7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KRT7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KRT7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Krt7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Krt7 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KRT7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KRT7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KRT7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KRT7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | krt5.7 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397878 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | krt4 31 |
|
ManyToMany | |
si:dkey-222f2.1 31 |
|
ManyToMany | |||
krt8 31 |
|
ManyToMany | |||
krt5 31 |
|
ManyToMany | |||
zgc:158846 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710358 | Likely Benign: not provided | 52,248,642(+) | C/T | MISSENSE_VARIANT | |
714178 | Benign: not provided | 52,241,562(+) | G/A | MISSENSE_VARIANT | |
745178 | Likely Benign: not provided | 52,233,560(+) | C/T | SYNONYMOUS_VARIANT | |
768543 | Benign: not provided | 52,248,646(+) | C/T | SYNONYMOUS_VARIANT | |
769820 | Benign: not provided | 52,233,347(+) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1501n100 | CNV | gain | 25217958 |
esv2759899 | CNV | gain | 17122850 |
nsv975489 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudomyxoma peritonei |
|
|
signet ring cell adenocarcinoma |
|
|
bile duct adenoma |
|
|
cystadenoma |
|
|
mucinous cystadenocarcinoma |
|