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KRTAP12-1 (Keratin Associated Protein 12-1) is a Protein Coding gene. Diseases associated with KRTAP12-1 include Three M Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP12-2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005882 | intermediate filament | IEA | -- |
GO:0045095 | keratin filament | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology | ||
2 | Keratinization |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031424 | keratinization | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KRTAP12-1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | LOC101056229 30 |
|
||
Gm10142 31 |
|
ManyToMany | |||
Gm29802 17 |
|
|
|||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2723675 | CNV | deletion | 23290073 |
esv2723676 | CNV | deletion | 23290073 |
esv2760705 | CNV | gain | 21179565 |
nsv587811 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
three m syndrome 1 |
|
|