Human Gene DMP1 (ENST00000282479.8) from GENCODE V44
Description: Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 2, mRNA. (from RefSeq NM_001079911) RefSeq Summary (NM_001079911): Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000282479.8 Gencode Gene: ENSG00000152592.15 Transcript (Including UTRs) Position: hg38 chr4:87,650,307-87,664,357 Size: 14,051 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr4:87,656,493-87,663,320 Size: 6,828 Coding Exon Count: 4
ID:DMP1_HUMAN DESCRIPTION: RecName: Full=Dentin matrix acidic phosphoprotein 1; Short=DMP-1; Short=Dentin matrix protein 1; Flags: Precursor; FUNCTION: May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite. SUBUNIT: Interacts with importin alpha. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Secreted, extracellular space, extracellular matrix. Note=In proliferating preosteoblasts it is nuclear, during early maturation stage is cytoplasmic and in mature osteoblast localizes in the mineralized matrix. Export from the nucleus of differentiating osteoblast is triggered by the release of calcium from intracellular stores followed by a massive influx of this pool of calcium into the nucleus. TISSUE SPECIFICITY: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast. PTM: Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform of CK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif. DISEASE: Defects in DMP1 are the cause of rickets hypophosphatemic autosomal recessive type 1 (ARHR1) [MIM:241520]. A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities.
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.
Pfam Domains: PF07263 - Dentin matrix protein 1 (DMP1)
ModBase Predicted Comparative 3D Structure on Q13316
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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.
US Server
