Version 5.4
Homo sapiens Protein: FAM83H
Summary
InnateDB Protein IDBP-39019.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM83H
Protein Name family with sequence similarity 83, member H
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000373565
InnateDB Gene IDBG-39015 (FAM83H)
Protein Structure
UniProt Annotation
Function May play a major role in the structural organization and calcification of developing enamel. {ECO:0000269PubMed:18252228}.
Subcellular Localization
Disease Associations Amelogenesis imperfecta 3 (AI3) [MIM:130900]: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. {ECO:0000269PubMed:18252228}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in the tooth follicle. {ECO:0000269PubMed:18252228}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0031214 biomineral tissue development
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR012461 Protein of unknown function DUF1669
PFAM PF07894
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6ZRV2
PhosphoSite PhosphoSite-Q6ZRV2
TrEMBL F4ZCG5
UniProt Splice Variant
Entrez Gene 286077
UniGene Hs.713170
RefSeq NP_940890
HUGO HGNC:24797
OMIM 611927
CCDS CCDS6410
HPRD 13521
IMGT
EMBL AC105219 AK127960 BC007264 BC033256 HM481257
GenPept AAH07264 AAH33256 AEB00836 BAC87207

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