Version 5.4
Homo sapiens Protein: FAM111B
Summary
InnateDB Protein IDBP-374911.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM111B
Protein Name family with sequence similarity 111, member B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000393855
InnateDB Gene IDBG-48107 (FAM111B)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
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.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:24268661}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
Biological Process
GO:0008152 metabolic process
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR009003 Trypsin-like cysteine/serine peptidase domain
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6SJ93
PhosphoSite PhosphoSite-Q6SJ93
TrEMBL E9PS27
UniProt Splice Variant
Entrez Gene 374393
UniGene Hs.186579
RefSeq NP_001136176
HUGO HGNC:24200
OMIM 615584
CCDS CCDS44611
HPRD 07096
IMGT
EMBL AK304258 AP001258 AY457926 BC062456 BC130513 BC130539
GenPept AAH62456 AAI30514 AAI30540 AAR20839 BAG65124

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca