DMP1 Gene (Protein Coding)

Dentin Matrix Acidic Phosphoprotein 1

GC04P087650
GIFtS:
42
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 functio... See more...

Aliases for DMP1 Gene

Aliases for DMP1 Gene

  • Dentin Matrix Acidic Phosphoprotein 1 2 3 4 5
  • Dentin Matrix Protein 1 3 4
  • DMP-1 3 4
  • Dentin Matrix Acidic Phosphoprotein 2
  • ARHP 3
  • ARHR 3
  • DMP1 5

External Ids for DMP1 Gene

Previous GeneCards Identifiers for DMP1 Gene

  • GC04P088729
  • GC04P088873
  • GC04P089029
  • GC04P088928
  • GC04P088571
  • GC04P084317

Summaries for DMP1 Gene

Entrez Gene Summary for DMP1 Gene

  • 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]

GeneCards Summary for DMP1 Gene

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.

UniProtKB/Swiss-Prot Summary for DMP1 Gene

  • 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.

Gene Wiki entry for DMP1 Gene

Additional gene information for DMP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMP1 Gene

Genomics for DMP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J087650 Promoter 0.3 EPDnew 600.7 0.0 -19 0.1 DMP1 RF00017-4360 DSPP ENSG00000249001
GH04J087524 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -122.5 -122526 7.5 PRDM10 SP1 SCRT2 ZNF10 YY1 ZBTB17 NR2F2 CBX5 RAD21 ZSCAN16 SPARCL1 lnc-HSD17B11-3 DMP1 ENSG00000272856 MEPE piR-38352-421 NUDT9
GH04J087520 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -128.6 -128579 3.8 PRDM10 ZNF629 ZNF692 BACH1 ZSCAN4 PKNOX1 ZNF501 ZBTB44 ZNF639 DPF2 SPARCL1 DMP1 DSPP lnc-HSD17B11-3 piR-38352-421 NUDT9
GH04J087679 Enhancer 0.8 Ensembl ENCODE 11.1 +29.7 29705 1.8 CREB1 CTCF ATF7 ZIC2 REST RAD21 TRIM22 ESR1 SMC3 MYC DMP1 DSPP SPARCL1 IBSP ENSG00000249001 LOC105377323 piR-32325-122
GH04J087588 Enhancer 0.8 Ensembl ENCODE 10.7 -60.7 -60666 1.4 CREB1 ZNF629 ATF7 CEBPB CTBP1 JUN ZBTB17 ZNF217 ATF2 JUND DMP1 SPARCL1 MEPE DSPP hsa-miR-5095-371 ENSG00000249001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DMP1

Top Transcription factor binding sites by QIAGEN in the DMP1 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • Chx10
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • RSRFC4
  • YY1

Genomic Locations for DMP1 Gene

Genomic Locations for DMP1 Gene
chr4:87,650,280-87,664,361
(GRCh38/hg38)
Size:
14,082 bases
Orientation:
Plus strand
chr4:88,571,454-88,585,513
(GRCh37/hg19)
Size:
14,060 bases
Orientation:
Plus strand

Genomic View for DMP1 Gene

Genes around DMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DMP1 Gene

Proteins for DMP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13316-DMP1_HUMAN
    Recommended name:
    Dentin matrix acidic phosphoprotein 1
    Protein Accession:
    Q13316
    Secondary Accessions:
    • A1L4L3
    • O43265

    Protein attributes for DMP1 Gene

    Size:
    513 amino acids
    Molecular mass:
    55782 Da
    Quaternary structure:
    • Interacts with importin alpha.

    Alternative splice isoforms for DMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMP1 Gene

Protein Expression for DMP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DMP1 Gene

  • 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.
  • Glycosylation at Asn25, Asn285, Asn324, Asn345, Asn351, Asn413, Asn426, and Asn467
  • Modification sites at PhosphoSitePlus

Other Protein References for DMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for DMP1
  • Boster Bio Antibodies for DMP1

No data available for DME Specific Peptides for DMP1 Gene

Domains & Families for DMP1 Gene

Gene Families for DMP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for DMP1 Gene

InterPro:
Blocks:
  • Dentin matrix 1
ProtoNet:

Suggested Antigen Peptide Sequences for DMP1 Gene

GenScript: Design optimal peptide antigens:
  • Dentin matrix acidic phosphoprotein 1 (DMP1_HUMAN)
genes like me logo Genes that share domains with DMP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DMP1 Gene

Function for DMP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DMP1 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
dentin matrix acidic phosphoprotein 1

Phenotypes From GWAS Catalog for DMP1 Gene

Gene Ontology (GO) - Molecular Function for DMP1 Gene

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 --
genes like me logo Genes that share ontologies with DMP1: view
genes like me logo Genes that share phenotypes with DMP1: view

Human Phenotype Ontology for DMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DMP1 Gene

MGI Knock Outs for DMP1:
  • Dmp1 Dmp1<tm1Mis>
  • Dmp1 Dmp1<tm1.1(KOMP)Vlcg>
  • Dmp1 Dmp1<tm1.1Mis>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMP1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DMP1 Gene

Localization for DMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMP1 Gene

Nucleus. Cytoplasm. Secreted, extracellular space, extracellular matrix. Note=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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMP1 gene
Compartment Confidence
extracellular 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for DMP1 Gene

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 --
genes like me logo Genes that share ontologies with DMP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMP1 Gene

Pathways & Interactions for DMP1 Gene

genes like me logo Genes that share pathways with DMP1: view

Pathways by source for DMP1 Gene

2 Reactome pathways for DMP1 Gene
1 KEGG pathway for DMP1 Gene

Gene Ontology (GO) - Biological Process for DMP1 Gene

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 --
genes like me logo Genes that share ontologies with DMP1: view

No data available for SIGNOR curated interactions for DMP1 Gene

Drugs & Compounds for DMP1 Gene

Products:

  1. Drug

(3) Drugs for DMP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556

(3) Additional Compounds for DMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DMP1: view

Transcripts for DMP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DMP1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMP1

Alternative Splicing Database (ASD) splice patterns (SP) for DMP1 Gene

No ASD Table

Relevant External Links for DMP1 Gene

GeneLoc Exon Structure for
DMP1

Expression for DMP1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMP1 Gene

mRNA expression in normal human tissues for DMP1 Gene
mRNA expression by GTEx for DMP1 GenemRNA expression by BioGPS for DMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMP1 Gene

This gene is overexpressed in Testis (x19.8) and Artery - Tibial (x7.4).

Protein differential expression in normal tissues from HIPED for DMP1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMP1 Gene



Protein tissue co-expression partners for DMP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DMP1

SOURCE GeneReport for Unigene cluster for DMP1 Gene:

Hs.652366

mRNA Expression by UniProt/SwissProt for DMP1 Gene:

Q13316-DMP1_HUMAN
Tissue specificity: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Evidence on tissue expression from TISSUES for DMP1 Gene

  • Bone(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DMP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with DMP1: view

Orthologs for DMP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DMP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DMP1 30 31
  • 98.77 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DMP1 30 31
  • 81.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DMP1 30 31
  • 77.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dmp1 30
  • 73.31 (n)
Mouse
(Mus musculus)
 Mammalia Dmp1 30 17 31
  • 72.49 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DMP1 31
  • 48 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DMP1 31
  • 47 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DMP1 31
  • 26 (a)
 OneToOne
Species where no ortholog for DMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DMP1 Gene

ENSEMBL:
Gene Tree for DMP1 (if available)
TreeFam:
Gene Tree for DMP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMP1: view image

Paralogs for DMP1 Gene

No data available for Paralogs for DMP1 Gene

Variants for DMP1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DMP1 Gene

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

Additional dbSNP identifiers (rs#s) for DMP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DMP1 Gene

Variant ID Type Subtype PubMed ID
esv3601281 CNV loss 21293372
nsv1002789 CNV loss 25217958
nsv594789 CNV loss 21841781

Variation tolerance for DMP1 Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.26; 81.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMP1 Gene

Human Gene Mutation Database (HGMD)
DMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMP1 Gene

Disorders for DMP1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for DMP1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DMP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DMP1_HUMAN
  • Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1) [MIM:241520]: 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. {ECO:0000269 PubMed:17033621, ECO:0000269 PubMed:17033625}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DMP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DMP1: view

No data available for Genatlas for DMP1 Gene

Publications for DMP1 Gene

  1. 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. (PMID: 9177774) Hirst KL … MacDougall M (Genomics 1997) 2 3 4 23
  2. Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21. (PMID: 8586437) Aplin HM … Dixon MJ (Genomics 1995) 2 3 4 23
  3. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. (PMID: 17033625) Lorenz-Depiereux B … Strom TM (Nature genetics 2006) 3 4 23
  4. Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store. (PMID: 12615915) Narayanan K … George A (The Journal of biological chemistry 2003) 3 4 23
  5. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. (PMID: 19796717) Turan S … Jüppner H (Bone 2010) 3 23

ExternalLinks

View latest publications for DMP1 gene in Mastermind

Products for DMP1 Gene

  • Boster Bio Antibodies for DMP1
  • Boster Bio ELISA Kits for DMP1

Sources for DMP1 Gene