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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]
DMP1 (Dentin Matrix Acidic Phosphoprotein 1) is a Protein Coding gene. Diseases associated with DMP1 include Hypophosphatemic Rickets, Autosomal Recessive, 1 and Autosomal Recessive Hypophosphatemic Rickets. Among its related pathways are Degradation of the extracellular matrix and ECM-receptor interaction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | TAS | 8509401 |
GO:0005509 | calcium ion binding | TAS | 8509401 |
GO:0050840 | extracellular matrix binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0031012 | extracellular matrix | TAS,IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | ECM-receptor interaction | ||
2 | ECM proteoglycans | ||
3 | Degradation of the extracellular matrix |
Symbol | External ID(s) | Details |
---|---|---|
CD44 | ||
CFH | ||
CHD2 | ||
ENSG00000272822 | ||
ERCC6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | TAS,IEA | -- |
GO:0010811 | positive regulation of cell-substrate adhesion | IEA | -- |
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0031214 | biomineral tissue development | IEA | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DMP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DMP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DMP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dmp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dmp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DMP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DMP1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DMP1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
727673 | Likely Benign: not provided | 87,662,041(+) | C/T | MISSENSE_VARIANT | |
727674 | Benign: not provided | 87,662,929(+) | G/A | MISSENSE_VARIANT | |
727721 | Likely Benign: not provided | 87,662,963(+) | A/C | SYNONYMOUS_VARIANT | |
732589 | Likely Benign: not provided | 87,662,775(+) | G/A | MISSENSE_VARIANT | |
733883 | Benign/Likely Benign: Autosomal recessive hypophosphatemic vitamin D refractory rickets; not provided | 87,662,417(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3601281 | CNV | loss | 21293372 |
nsv1002789 | CNV | loss | 25217958 |
nsv594789 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypophosphatemic rickets, autosomal recessive, 1 |
|
|
autosomal recessive hypophosphatemic rickets |
|
|
osteomalacia |
|
|
hypophosphatemia |
|
|
rickets |
|
|