DMP1 (gene)

DMP1 (gene)
Dentin matrix acidic phosphoprotein 1
Identifiers
Symbols DMP1; ARHP; ARHR; DMP-1
External IDs OMIM600980 MGI94910 HomoloGene68396 GeneCards: DMP1 Gene
RNA expression pattern
PBB GE DMP1 208175 s at tn.png
PBB GE DMP1 217067 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1758 13406
Ensembl ENSG00000152592 ENSMUSG00000029307
UniProt Q13316 Q2HJ09
RefSeq (mRNA) NM_001079911.2 NM_016779.2
RefSeq (protein) NP_001073380.1 NP_058059.2
Location (UCSC) Chr 4:
88.57 – 88.59 Mb
Chr 5:
104.63 – 104.64 Mb
PubMed search [1] [2]

Dentin matrix acidic phosphoprotein 1 is a protein that in humans is encoded by the DMP1 gene.[1][2][3]

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.[3]

References

  1. ^ Aplin HM, Hirst KL, Crosby AH, Dixon MJ (Mar 1996). "Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21". Genomics 30 (2): 347–9. doi:10.1006/geno.1995.9867. PMID 8586437. 
  2. ^ Hirst KL, Simmons D, Feng J, Aplin H, Dixon MJ, MacDougall M (Jul 1997). "Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II". Genomics 42 (1): 38–45. doi:10.1006/geno.1997.4700. PMID 9177774. 
  3. ^ a b "Entrez Gene: DMP1 dentin matrix acidic phosphoprotein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1758. 

Further reading


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