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

Gene ID: 1758, updated on 2-Nov-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
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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 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)

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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