Protein Summary
This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]
- ENST00000343597
- ENSP00000341565
- ENSG00000189057
- ENST00000411426
- ENSP00000393855
- ENST00000529618
- ENSP00000432875
- ENST00000620384
- ENSP00000483456
- CANP
- CANP
- POIKTMP
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
cell type or tissue | 0.73 | ||
histone modification site profile | 0.68 | ||
tissue sample | 0.57 | ||
cell line | 0.5 | ||
microRNA | 0.5 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 28.07 (req: < 5)
Gene RIFs: 15 (req: <= 3)
Antibodies: 73 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 28.07 (req: >= 5)
Gene RIFs: 15 (req: > 3)
Antibodies: 73 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Term: 0
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0