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The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT31 (Keratin 31) is a Protein Coding gene. Diseases associated with KRT31 include Skin Pilomatrix Carcinoma and Hair Follicle Neoplasm. 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 KRT33B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | IEA | -- |
GO:0005200 | structural constituent of cytoskeleton | TAS | 9405442 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 23580065 |
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | TAS,IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Relaxin signaling pathway | ||
2 | Staphylococcus aureus infection | ||
3 | Developmental Biology | ||
4 | Keratinization |
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0008544 | epidermis development | TAS | 7578244 |
GO:0031424 | keratinization | TAS | -- |
GO:0070268 | cornification | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRT31 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KRT31 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Krt33a 17 31 |
|
ManyToMany | |
Krt33b 17 31 |
|
ManyToMany | |||
Krt34 31 |
|
ManyToMany | |||
Krt31 30 17 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | KRT31 30 31 |
|
ManyToMany | |
KRT33A 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
HKA1 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Krt31 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777164 | Benign: not provided | 41,395,281(-) | G/A | SYNONYMOUS_VARIANT | |
rs34293483 | - | p.Ala377Val | |||
rs6503627 | - | p.Ala82Val | |||
rs6503628 | - | p.Ala39Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758690 | CNV | gain+loss | 17122850 |
esv3640586 | CNV | loss | 21293372 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv2052 | CNV | insertion | 18451855 |
nsv483014 | CNV | loss | 15286789 |
nsv962322 | CNV | duplication | 23825009 |
nsv962323 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
skin pilomatrix carcinoma |
|
|
hair follicle neoplasm |
|
|
inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 |
|
|
pilomatrixoma |
|
|
nodular basal cell carcinoma |
|
|