ID:DSPP_HUMAN DESCRIPTION: RecName: Full=Dentin sialophosphoprotein; Contains: RecName: Full=Dentin phosphoprotein; AltName: Full=Dentin phosphophoryn; Short=DPP; Contains: RecName: Full=Dentin sialoprotein; Short=DSP; Flags: Precursor; FUNCTION: DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals. SUBUNIT: Interacts with FBLN7 (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts. PTM: DSP is glycosylated. DISEASE: Defects in DSPP are the cause of deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]. Affected individuals present DGI1 associated with early onset progressive sensorineural high-frequency hearing loss. DISEASE: Defects in DSPP are the cause of dentinogenesis imperfecta type 1 (DGI1) [MIM:125490]; also known as dentinogenesis imperfecta Shields type 2 (DGI2). DGI1 is an autosomal dominant disorder in which both the primary and the permanent teeth are affected. It occurs with an incidence of 1:8000 live births. The teeth are amber and opalescent, the pulp chamber being obliterated by abnormal dentin. The enamel, although unaffected, tends to fracture, which makes dentin undergo rapid attrition, leading to shortening of the teeth. DISEASE: Defects in DSPP are a cause of dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]. Patients with DGI3 do not have stigmata of osteogenesis imperfecta. The finding that a single defects in the DSPP gene causes both phenotypic patterns of DGI2 and DGI3 strongly supports the conclusion that these two disorders are not separate diseases but rather the phenotypic variation of a single genetic defect. DISEASE: Defects in DSPP are the cause of dentin dysplasia type 2 (DTDP2) [MIM:125420]; also known as dentin dysplasia Shields type 2. DTDP2 is an autosomal dominant disorder in which mineralization of the dentine of the primary teeth is abnormal. On the basis of the phenotypic overlap between, and shared chromosomal location with DGI2 it has been proposed that DTDP2 and DGI2 are allelic. From the results of recent studies, it is clear that different types of mutations in DSPP lead to the two different phenotypes.
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.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9NZW4
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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.
Biological Process: GO:0001501 skeletal system development GO:0001503 ossification GO:0007275 multicellular organism development GO:0030198 extracellular matrix organization GO:0031214 biomineral tissue development GO:1901329 regulation of odontoblast differentiation
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
