DMP1
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.
Involvement in disease
Hypophosphatemic rickets, autosomal recessive, 1
ARHR1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Tissue Specificity
Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
Cellular localization
- Nucleus
- Cytoplasm
- Secreted
- Extracellular space
- Extracellular matrix
- 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.
Alternative names
Dentin matrix acidic phosphoprotein 1, DMP-1, Dentin matrix protein 1, DMP1