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    DMP1 dentin matrix acidic phosphoprotein 1 [ Homo sapiens (human) ]

    Gene ID: 1758, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DMP1provided by HGNC
    Official Full Name
    dentin matrix acidic phosphoprotein 1provided by HGNC
    Primary source
    HGNC:HGNC:2932
    See related
    Ensembl:ENSG00000152592 MIM:600980; AllianceGenome:HGNC:2932
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARHP; ARHR; DMP-1
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See DMP1 in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87650280..87664357)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90976706..90990757)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88571432..88585509)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene SPARC like 1 Neighboring gene uncharacterized LOC124900729 Neighboring gene NANOG hESC enhancer GRCh37_chr4:88441567-88442068 Neighboring gene dentin sialophosphoprotein Neighboring gene uncharacterized LOC105377323 Neighboring gene Sharpr-MPRA regulatory region 8695 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:88601833-88602776 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:88631815-88632417 Neighboring gene uncharacterized LOC105377324 Neighboring gene uncharacterized LOC124900912

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets. Bastida G, et al. Arch Argent Pediatr, 2023 Apr 1. PMID 36315908
    2. Genome-wide identification of chromatin-enriched RNA reveals that unspliced dentin matrix protein-1 mRNA regulates cell proliferation in squamous cell carcinoma. Suzuki S, et al. Biochem Biophys Res Commun, 2018 Jan 15. PMID 29278708
    3. Low Dentin Matrix Protein 1 Is Associated With Incident Cardiovascular Events in Peritoneal Dialysis Patients. Yoon CY, et al. J Bone Miner Res, 2016 Dec. PMID 27390906
    4. Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province. Liu JM, et al. Chin Med J (Engl), 2016 Mar 20. PMID 26960368, Free PMC Article
    5. Immunolocalization of dentin matrix protein-1 in human primary teeth treated with different pulp capping materials. Lourenço Neto N, et al. J Biomed Mater Res B Appl Biomater, 2016 Jan. PMID 25678029

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.
      Title: First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.
    2. Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
      Title: Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
    3. Mettl3 regulates hypertrophic differentiation of chondrocytes through modulating Dmp1 mRNA via Ythdf1-mediated m(6)A modification.
      Title: Mettl3 regulates hypertrophic differentiation of chondrocytes through modulating Dmp1 mRNA via Ythdf1-mediated m(6)A modification.
    4. DMP-1 promoter-associated antisense strand non-coding RNA, panRNA-DMP-1, physically associates with EGFR to repress EGF-induced squamous cell carcinoma migration.
      Title: DMP-1 promoter-associated antisense strand non-coding RNA, panRNA-DMP-1, physically associates with EGFR to repress EGF-induced squamous cell carcinoma migration.
    5. dentin matrix protein 1 was detected in the periodontal ligament co-localized with periostin in the vicinity of the cement
      Title: Periostin, dentin matrix protein 1 and P2rx7 ion channel in human teeth and periodontal ligament.
    6. The Dentin matrix protein1 (Dmp1) is an acidic phosphoprotein of osteocytes proposed to participate in bone and dentin mineralization.
      Title: In focus in HCB.
    7. Thus, unspDMP-1 is a novel chromatin-enriched RNA that epigenetically regulates cellular proliferation of SQCC.
      Title: Genome-wide identification of chromatin-enriched RNA reveals that unspliced dentin matrix protein-1 mRNA regulates cell proliferation in squamous cell carcinoma.
    8. DMP1 might be a potential factor contributing to cardiovascular complications in dialysis patients.
      Title: Low Dentin Matrix Protein 1 Is Associated With Incident Cardiovascular Events in Peritoneal Dialysis Patients.
    9. DMP1 gene seems to be involved in genetic predisposition to Ankylosing spondylitis (AS).
      Title: Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province.
    10. DMP-1 immunostaining was higher for MTA and PC, confirming the reparative and bioinductive capacity of these materials.
      Title: Immunolocalization of dentin matrix protein-1 in human primary teeth treated with different pulp capping materials.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypophosphatemic rickets, autosomal recessive, 1
    MedGen: C4551495 OMIM: 241520 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables extracellular matrix binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables integrin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables ion binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dentin matrix acidic phosphoprotein 1
    Names
    dentin matrix protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008988.1 RefSeqGene

      Range
      4979..19056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079911.3 → NP_001073380.1  dentin matrix acidic phosphoprotein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001073380.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame exon, compared to variant 1, resulting in a protein (isoform 2) that is 16 aa shorter than isoform 1.
      Source sequence(s)
      AC093895, AI371158, U65378
      Consensus CDS
      CCDS43249.1
      UniProtKB/Swiss-Prot
      Q13316
      Related
      ENSP00000282479.6, ENST00000282479.8
      Conserved Domains (1) summary
      pfam07263
      Location:1 → 497
      DMP1; Dentin matrix protein 1 (DMP1)

    2. NM_004407.4 → NP_004398.1  dentin matrix acidic phosphoprotein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093895, AI371158, U89012
      Consensus CDS
      CCDS3623.1
      UniProtKB/Swiss-Prot
      A1L4L3, O43265, Q13316
      Related
      ENSP00000340935.6, ENST00000339673.11
      Conserved Domains (1) summary
      pfam07263
      Location:1 → 513
      DMP1; Dentin matrix protein 1 (DMP1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      87650280..87664357
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531705.3 → XP_011530007.1  dentin matrix acidic phosphoprotein 1 isoform X1

      Related
      ENST00000684389.1
      Conserved Domains (1) summary
      pfam07263
      Location:30 → 542
      DMP1; Dentin matrix protein 1 (DMP1)

    2. XM_011531706.3 → XP_011530008.1  dentin matrix acidic phosphoprotein 1 isoform X2

      Related
      ENST00000682781.1
      Conserved Domains (1) summary
      pfam07263
      Location:30 → 526
      DMP1; Dentin matrix protein 1 (DMP1)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      90976706..90990757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349148.1 → XP_054205123.1  dentin matrix acidic phosphoprotein 1 isoform X1

    2. XM_054349149.1 → XP_054205124.1  dentin matrix acidic phosphoprotein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13316.2 GenPept UniProtKB/Swiss-Prot:Q13316

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