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

    Gene ID: 1758, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DMP1 in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87650280..87664357)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90976706..90990757)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001079911.3NP_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:1497
      DMP1; Dentin matrix protein 1 (DMP1)
    2. NM_004407.4NP_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:1513
      DMP1; Dentin matrix protein 1 (DMP1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011531705.3XP_011530007.1  dentin matrix acidic phosphoprotein 1 isoform X1

      Related
      ENST00000684389.1
      Conserved Domains (1) summary
      pfam07263
      Location:30542
      DMP1; Dentin matrix protein 1 (DMP1)
    2. XM_011531706.3XP_011530008.1  dentin matrix acidic phosphoprotein 1 isoform X2

      Related
      ENST00000682781.1
      Conserved Domains (1) summary
      pfam07263
      Location:30526
      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_054349148.1XP_054205123.1  dentin matrix acidic phosphoprotein 1 isoform X1

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