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Q13316 (DMP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dentin matrix acidic phosphoprotein 1

Short name=DMP-1
Short name=Dentin matrix protein 1
Gene names
Name:DMP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length513 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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 osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite. Ref.6

Subunit structure

Interacts with importin alpha. Ref.6

Subcellular location

Nucleus. Cytoplasm. Secretedextracellular spaceextracellular matrix. Note: In proliferating preosteoblasts it is nuclear, during early maturation stage is cytoplasmic and in mature osteoblast localizes in the mineralized matrix. Export from the nucleus of differentiating osteoblast is triggered by the release of calcium from intracellular stores followed by a massive influx of this pool of calcium into the nucleus. Ref.6

Tissue specificity

Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Post-translational modification

Phosphorylated in the cytosol and extracellular matrix and unphosphorylated in the nucleus. Phosphorylation is necessary for nucleocytoplasmic transport and may be catalyzed by a nuclear isoform ofCK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif. Ref.6 Ref.9

Involvement in disease

Hypophosphatemic rickets, autosomal recessive, 1 (ARHR1) [MIM:241520]: A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13316-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q13316-2)

The sequence of this isoform differs from the canonical sequence as follows:
     46-61: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Chain17 – 513497Dentin matrix acidic phosphoprotein 1
PRO_0000021110

Regions

Motif364 – 3663Cell attachment site Potential

Amino acid modifications

Glycosylation251N-linked (GlcNAc...) Potential
Glycosylation2851N-linked (GlcNAc...) Potential
Glycosylation3241N-linked (GlcNAc...) Potential
Glycosylation3451N-linked (GlcNAc...) Potential
Glycosylation3511N-linked (GlcNAc...) Potential
Glycosylation4131N-linked (GlcNAc...) Potential
Glycosylation4261N-linked (GlcNAc...) Potential
Glycosylation4671N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence46 – 6116Missing in isoform 2.
VSP_004191
Natural variant691S → C. Ref.2 Ref.7
Corresponds to variant rs10019009 [ dbSNP | Ensembl ].
VAR_030750
Natural variant1171D → N in one individual with tumoral calcinosis. Ref.7
VAR_030751
Natural variant2721R → H. Ref.7
Corresponds to variant rs145237146 [ dbSNP | Ensembl ].
VAR_030752
Natural variant4631K → R.
Corresponds to variant rs34661425 [ dbSNP | Ensembl ].
VAR_033848

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1998. Version 2.
Checksum: 2C1FDE319A5D106F

FASTA51355,782
        10         20         30         40         50         60 
MKISILLMFL WGLSCALPVT RYQNNESEDS EEWKGHLAQA PTPPLESSES SEGSKVSSEE 

        70         80         90        100        110        120 
QANEDPSDST QSEEGLGSDD HQYIYRLAGG FSRSTGKGGD DKDDDEDDSG DDTFGDDDSG 

       130        140        150        160        170        180 
PGPKDRQEGG NSRLGSDEDS DDTIQASEES APQGQDSAQD TTSESRELDN EDRVDSKPEG 

       190        200        210        220        230        240 
GDSTQESESE EHWVGGGSDG ESSHGDGSEL DDEGMQSDDP ESIRSERGNS RMNSAGMKSK 

       250        260        270        280        290        300 
ESGENSEQAN TQDSGGSQLL EHPSRKIFRK SRISEEDDRS ELDDNNTMEE VKSDSTENSN 

       310        320        330        340        350        360 
SRDTGLSQPR RDSKGDSQED SKENLSQEES QNVDGPSSES SQEANLSSQE NSSESQEEVV 

       370        380        390        400        410        420 
SESRGDNPDP TTSYVEDQED SDSSEEDSSH TLSHSKSESR EEQADSESSE SLNFSEESPE 

       430        440        450        460        470        480 
SPEDENSSSQ EGLQSHSSSA ESQSEESHSE EDDSDSQDSS RSKEDSNSTE SKSSSEEDGQ 

       490        500        510 
LKNIEIESRK LTVDAYHNKP IGDQDDNDCQ DGY 

« Hide

Isoform 2 [UniParc].

Checksum: 6E146232B6365507
Show »

FASTA49754,115

References

« Hide 'large scale' references
[1]"Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II."
Hirst K.L., Simmons D., Feng J., Aplin H., Dixon M.J., McDougall M.
Genomics 42:38-45(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Molar.
[2]McDougall M., Juan X., Simmons D., Feng J.
Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT CYS-69.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21."
Aplin H.M., Hirst K.L., Crosby A.H., Dixon M.J.
Genomics 30:347-349(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 462-513, GENE MAPPING.
[6]"Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store."
Narayanan K., Ramachandran A., Hao J., He G., Park K.W., Cho M., George A.
J. Biol. Chem. 278:17500-17508(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, PHOSPHORYLATION, INTERACTION WITH IMPORTIN ALPHA.
[7]"DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis."
Lorenz-Depiereux B., Bastepe M., Benet-Pages A., Amyere M., Wagenstaller J., Mueller-Barth U., Badenhoop K., Kaiser S.M., Rittmaster R.S., Shlossberg A.H., Olivares J.L., Loris C., Ramos F.J., Glorieux F., Vikkula M., Jueppner H., Strom T.M.
Nat. Genet. 38:1248-1250(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ARHR1, VARIANTS CYS-69; ASN-117 AND HIS-272.
[8]"Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism."
Feng J.Q., Ward L.M., Liu S., Lu Y., Xie Y., Yuan B., Yu X., Rauch F., Davis S.I., Zhang S., Rios H., Drezner M.K., Quarles L.D., Bonewald L.F., White K.E.
Nat. Genet. 38:1310-1315(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN ARHR1.
[9]"Secreted kinase phosphorylates extracellular proteins that regulate biomineralization."
Tagliabracci V.S., Engel J.L., Wen J., Wiley S.E., Worby C.A., Kinch L.N., Xiao J., Grishin N.V., Dixon J.E.
Science 336:1150-1153(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION BY FAM20C.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U89012 mRNA. Translation: AAC51332.1.
U34037 Genomic DNA. Translation: AAA97602.1.
CH471057 Genomic DNA. Translation: EAX05996.1.
BC130581 mRNA. Translation: AAI30582.1.
BC132865 mRNA. Translation: AAI32866.1.
U65378 mRNA. Translation: AAB87728.1.
CCDSCCDS3623.1. [Q13316-1]
CCDS43249.1. [Q13316-2]
RefSeqNP_001073380.1. NM_001079911.2. [Q13316-2]
NP_004398.1. NM_004407.3. [Q13316-1]
UniGeneHs.652366.

3D structure databases

ProteinModelPortalQ13316.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108098. 1 interaction.
STRING9606.ENSP00000340935.

PTM databases

PhosphoSiteQ13316.

Polymorphism databases

DMDM7673998.

Proteomic databases

PaxDbQ13316.
PRIDEQ13316.

Protocols and materials databases

DNASU1758.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282479; ENSP00000282479; ENSG00000152592. [Q13316-2]
ENST00000339673; ENSP00000340935; ENSG00000152592. [Q13316-1]
GeneID1758.
KEGGhsa:1758.
UCSCuc003hqv.3. human. [Q13316-1]
uc003hqw.3. human. [Q13316-2]

Organism-specific databases

CTD1758.
GeneCardsGC04P088571.
HGNCHGNC:2932. DMP1.
HPAHPA037465.
MIM241520. phenotype.
600980. gene.
neXtProtNX_Q13316.
Orphanet289176. Autosomal recessive hypophosphatemic rickets.
PharmGKBPA27379.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG86154.
HOGENOMHOG000220909.
HOVERGENHBG073257.
InParanoidQ13316.
OMAQEGLQSH.
OrthoDBEOG7F24TN.
PhylomeDBQ13316.
TreeFamTF337029.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.
SignaLinkQ13316.

Gene expression databases

BgeeQ13316.
CleanExHS_DMP1.
GenevestigatorQ13316.

Family and domain databases

InterProIPR009889. DMP1.
[Graphical view]
PANTHERPTHR23400. PTHR23400. 1 hit.
PfamPF07263. DMP1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDMP1_(gene).
GenomeRNAi1758.
NextBio7157.
PROQ13316.
SOURCESearch...

Entry information

Entry nameDMP1_HUMAN
AccessionPrimary (citable) accession number: Q13316
Secondary accession number(s): A1L4L3, O43265
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM