Human Gene ENAM (ENST00000396073.4) from GENCODE V44
Description: Homo sapiens enamelin (ENAM), transcript variant 1, mRNA. (from RefSeq NM_031889) RefSeq Summary (NM_031889): Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]. Gencode Transcript: ENST00000396073.4 Gencode Gene: ENSG00000132464.13 Transcript (Including UTRs) Position: hg38 chr4:70,628,744-70,646,824 Size: 18,081 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr4:70,629,501-70,644,855 Size: 15,355 Coding Exon Count: 8
ID:ENAM_HUMAN DESCRIPTION: RecName: Full=Enamelin; Flags: Precursor; FUNCTION: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast. DISEASE: Defects in ENAM are the cause of amelogenesis imperfecta type 1B (AI1B) [MIM:104500]. AI1B is 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 spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). DISEASE: Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM:204650]; also known as amelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect of dental enamel formation. Teeth show 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NRM1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0030345 structural constituent of tooth enamel
Biological Process: GO:0022604 regulation of cell morphogenesis GO:0031214 biomineral tissue development GO:0036305 ameloblast differentiation GO:0042475 odontogenesis of dentin-containing tooth GO:0043687 post-translational protein modification GO:0044267 cellular protein metabolic process GO:0070175 positive regulation of enamel mineralization GO:0097186 amelogenesis
Cellular Component: GO:0005576 extracellular region GO:0005788 endoplasmic reticulum lumen
Descriptions from all associated GenBank mRNAs
AF125373 - Homo sapiens enamelin mRNA, complete cds. JD352755 - Sequence 333779 from Patent EP1572962. BC117308 - Homo sapiens enamelin, mRNA (cDNA clone MGC:150917 IMAGE:40125859), complete cds. BC117310 - Homo sapiens enamelin, mRNA (cDNA clone MGC:150919 IMAGE:40125861), complete cds. BC171756 - Homo sapiens cDNA clone IMAGE:9053257, containing frame-shift errors. BC111841 - Synthetic construct Homo sapiens clone IMAGE:40080851, MGC:133405 ENAM protein (ENAM) mRNA, encodes complete protein. AF210247 - Homo sapiens enamelin (ENAM) mRNA, partial cds. JD201561 - Sequence 182585 from Patent EP1572962. JD566736 - Sequence 547760 from Patent EP1572962. JD557073 - Sequence 538097 from Patent EP1572962. JD167178 - Sequence 148202 from Patent EP1572962. JD410933 - Sequence 391957 from Patent EP1572962. JD524013 - Sequence 505037 from Patent EP1572962. JD090024 - Sequence 71048 from Patent EP1572962. JD206578 - Sequence 187602 from Patent EP1572962. JD069526 - Sequence 50550 from Patent EP1572962. JD061113 - Sequence 42137 from Patent EP1572962. JD045424 - Sequence 26448 from Patent EP1572962. JD501811 - Sequence 482835 from Patent EP1572962. JD359029 - Sequence 340053 from Patent EP1572962. JD050163 - Sequence 31187 from Patent EP1572962. JD170797 - Sequence 151821 from Patent EP1572962. JD154704 - Sequence 135728 from Patent EP1572962. JD199041 - Sequence 180065 from Patent EP1572962. JD086785 - Sequence 67809 from Patent EP1572962. JD314904 - Sequence 295928 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NRM1 (Reactome details) participates in the following event(s):
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8957275 Post-translational protein phosphorylation R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification
US Server
