InnateDB Protein
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IDBP-595929.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FAM111B
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Protein Name
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family with sequence similarity 111, member B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432875
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InnateDB Gene
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IDBG-48107 (FAM111B)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. {ECO:0000269PubMed:24268661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:24268661}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009003
Trypsin-like cysteine/serine peptidase domain
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6SJ93
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PhosphoSite |
PhosphoSite-Q6SJ93
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TrEMBL |
E9PS27
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UniProt Splice Variant |
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Entrez Gene |
374393
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UniGene |
Hs.186579
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RefSeq |
NP_001136175
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HUGO |
HGNC:24200
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OMIM |
615584
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CCDS |
CCDS44611
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HPRD |
07096
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IMGT |
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EMBL |
AK304258
AP001258
AY457926
BC062456
BC130513
BC130539
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GenPept |
AAH62456
AAI30514
AAI30540
AAR20839
BAG65124
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