Human Gene AMBN (ENST00000322937.10) Description and Page Index
Description: Homo sapiens ameloblastin (AMBN), mRNA. (from RefSeq NM_016519) RefSeq Summary (NM_016519): This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF209780.1, BC106931.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2145743 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000322937.10/ ENSP00000313809.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gencode Transcript: ENST00000322937.10 Gencode Gene: ENSG00000178522.14 Transcript (Including UTRs) Position: hg38 chr4:70,592,256-70,607,288 Size: 15,033 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr4:70,592,359-70,606,730 Size: 14,372 Coding Exon Count: 13
ID:AMBN_HUMAN DESCRIPTION: RecName: Full=Ameloblastin; Flags: Precursor; FUNCTION: Involved in the mineralization and structural organization of enamel. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel. SIMILARITY: Belongs to the ameloblastin family.
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 Q9NP70
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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.
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