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Gene : DMP1 Homo sapiens

Name  ? dentin matrix acidic phosphoprotein 1 Cytological Location  4q22.1
Brief Description  dentin matrix acidic phosphoprotein 1
Description  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]
  • synonyms:
  • HGNC:2932,
  • ARHP,
  • NM_001079911,
  • DMP-1,
  • U34037,
  • ARHR,
  • uc003hqv.4,
  • OTTHUMG00000130598,
  • dentin matrix acidic phosphoprotein,
  • DMP1
  • identifiers:
  • 1758,
  • ENSG00000152592,
  • DMP1

Genome feature

Region: gene ? Length: 14078  
Location: 4:87650280-87664357 Cyto location: 4q22.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

149 SN Ps

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results