InnateDB Protein
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IDBP-238264.5
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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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ENAM
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Protein Name
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enamelin
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Synonyms
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ADAI; AI1C; AIH2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379383
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InnateDB Gene
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IDBG-22585 (ENAM)
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Protein Structure
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Function |
Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix.
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Disease Associations |
Amelogenesis imperfecta 1B (AI1B) [MIM:104500]: An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). {ECO:0000269PubMed:11487571, ECO:0000269PubMed:11978766}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amelogenesis imperfecta 1C (AI1C) [MIM:204650]: An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. {ECO:0000269PubMed:14684688}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
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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 0 experimentally validated interaction(s) in this database.
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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 |
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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 |
Q9NRM1
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PhosphoSite |
PhosphoSite-Q9NRM1
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TrEMBL |
Q8NFB4
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UniProt Splice Variant |
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Entrez Gene |
10117
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UniGene |
Hs.736557
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RefSeq |
NP_114095
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HUGO |
HGNC:3344
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OMIM |
606585
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CCDS |
CCDS3544
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HPRD |
05960
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IMGT |
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EMBL |
AF125373
AF210247
AF530444
BC117308
BC117310
CH471057
EU482096
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GenPept |
AAF73847
AAG43242
AAI17309
AAI17311
AAM97323
ACA43029
EAX05625
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