DMP1 (dentin matrix acidic phosphoprotein 1)

Gene

• Entrez ID: 1758
• Gene name: Dentin matrix acidic phosphoprotein 1
• Gene symbol: DMP1
• Synonyms (NCBI Gene): ARHP, ARHR, DMP-1
• Chromosome: 4
• Chromosome location: 4q22.1
• 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 cell

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893834	A>G,T	Pathogenic	Missense variant, initiator codon variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736513	hsa-miR-708-5p	Western blotting, Microarray, qRT-PCR, Flow cytometry	32952566
MIRT736515	hsa-miR-642a-5p	Western blotting, Microarray, qRT-PCR, Flow cytometry	32952566
MIRT939145	hsa-miR-1200	CLIP-seq
MIRT939146	hsa-miR-1236	CLIP-seq
MIRT939147	hsa-miR-150	CLIP-seq
MIRT939148	hsa-miR-3156-3p	CLIP-seq
MIRT939149	hsa-miR-4299	CLIP-seq
MIRT939150	hsa-miR-4301	CLIP-seq
MIRT939151	hsa-miR-4456	CLIP-seq
MIRT939152	hsa-miR-4687-3p	CLIP-seq
MIRT939153	hsa-miR-4713-5p	CLIP-seq
MIRT939154	hsa-miR-483-3p	CLIP-seq
MIRT939155	hsa-miR-532-3p	CLIP-seq
MIRT939156	hsa-miR-548q	CLIP-seq
MIRT939157	hsa-miR-597	CLIP-seq
MIRT939158	hsa-miR-647	CLIP-seq
MIRT939159	hsa-miR-668	CLIP-seq
MIRT2213170	hsa-miR-4290	CLIP-seq
MIRT2213171	hsa-miR-4469	CLIP-seq
MIRT2213172	hsa-miR-4655-3p	CLIP-seq
MIRT2213173	hsa-miR-4687-5p	CLIP-seq
MIRT2213174	hsa-miR-4786-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	TAS	8509401
GO:0005178	Function	Integrin binding	TAS	8509401
GO:0005509	Function	Calcium ion binding	TAS	8509401
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	8509401
GO:0031214	Process	Biomineral tissue development	IEA
GO:0050840	Function	Extracellular matrix binding	IBA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0070173	Process	Regulation of enamel mineralization	IEA

Other IDs

• MIM: 600980
• HGNC: 2932
• e!Ensembl: ENSG00000152592

Protein

• UniProt ID: Q13316
• Protein name: Dentin matrix acidic phosphoprotein 1 (DMP-1) (Dentin matrix protein 1)
• Protein 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 osteob
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07263	DMP1	1 → 513	Dentin matrix protein 1 (DMP1)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
• Sequence:

  MKISILLMFLWGLSCALPVTRYQNNESEDSEEWKGHLAQAPTPPLESSESSEGSKVSSEE
  QANEDPSDSTQSEEGLGSDDHQYIYRLAGGFSRSTGKGGDDKDDDEDDSGDDTFGDDDSG
  PGPKDRQEGGNSRLGSDEDSDDTIQASEESAPQGQDSAQDTTSESRELDNEDRVDSKPEG
  GDSTQESESEEHWVGGGSDGESSHGDGSELDDEGMQSDDPESIRSERGNSRMNSAGMKSK
  ESGENSEQANTQDSGGSQLLEHPSRKIFRKSRISEEDDRSELDDNNTMEEVKSDSTENSN
  SRDTGLSQPRRDSKGDSQEDSKENLSQEESQNVDGPSSESSQEANLSSQENSSESQEEVV
  SESRGDNPDPTTSYVEDQEDSDSSEEDSSHTLSHSKSESREEQADSESSESLNFSEESPE
  SPEDENSSSQEGLQSHSSSAESQSEESHSEEDDSDSQDSSRSKEDSNSTESKSSSEEDGQ
  LKNIEIESRKLTVDAYHNKPIGDQDDNDCQDGY

• Sequence length: 513

Pathways

KEGG:

ECM-receptor interaction

Reactome:

ECM proteoglycans
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypophosphatemic rickets	Pathogenic; Likely pathogenic	rs1578152074, rs899142959	RCV001843319 RCV000609230	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphatemic rickets, autosomal recessive, 1	Pathogenic; Likely pathogenic	rs587776696, rs587776697, rs104893834, rs587776698	RCV000009104 RCV000009105 RCV000009106 RCV000009107	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMP1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphatemic Rickets, Recessive	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations