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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
The Dentin matrix protein1 (Dmp1) is an acidic phosphoprotein of osteocytes proposed to participate in bone and dentin mineralization.
Title: In focus in HCB.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-25118 (e-PCR)
- UniSTS:50982

NoName (e-PCR)
- UniSTS:482164

SHGC-67403 (e-PCR)
- UniSTS:78772

G34172 (e-PCR)
- UniSTS:37588

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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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

NG_008988.1 RefSeqGene

Range

4979..19056

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

87650280..87664357

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

90976706..90990757

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349148.1 → XP_054205123.1 dentin matrix acidic phosphoprotein 1 isoform X1
XM_054349149.1 → XP_054205124.1 dentin matrix acidic phosphoprotein 1 isoform X2