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Q13316

- DMP1_HUMAN

UniProt

Q13316 - DMP1_HUMAN

Protein

Dentin matrix acidic phosphoprotein 1

Gene

DMP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 2 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: ProtInc
    2. extracellular matrix binding Source: Ensembl
    3. integrin binding Source: ProtInc

    GO - Biological processi

    1. biomineral tissue development Source: UniProtKB-KW
    2. extracellular matrix organization Source: Reactome
    3. ossification Source: ProtInc
    4. positive regulation of cell-substrate adhesion Source: Ensembl

    Keywords - Biological processi

    Biomineralization

    Enzyme and pathway databases

    ReactomeiREACT_163906. ECM proteoglycans.
    SignaLinkiQ13316.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dentin matrix acidic phosphoprotein 1
    Short name:
    DMP-1
    Short name:
    Dentin matrix protein 1
    Gene namesi
    Name:DMP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:2932. DMP1.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication. Secretedextracellular spaceextracellular matrix 1 Publication
    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.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular region Source: Reactome
    3. intracellular membrane-bounded organelle Source: HPA
    4. nucleolus Source: HPA
    5. nucleus Source: HPA
    6. proteinaceous extracellular matrix Source: ProtInc

    Keywords - Cellular componenti

    Cytoplasm, Extracellular matrix, Nucleus, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi241520. phenotype.
    Orphaneti289176. Autosomal recessive hypophosphatemic rickets.
    PharmGKBiPA27379.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Chaini17 – 513497Dentin matrix acidic phosphoprotein 1PRO_0000021110Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi25 – 251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi285 – 2851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi324 – 3241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi345 – 3451N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi351 – 3511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi413 – 4131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi426 – 4261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi467 – 4671N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    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 of CK2 and can be augmented by calcium. Phosphorylated (in vitro) by FAM20C in the extracellular medium at sites within the S-x-E/pS motif.2 Publications

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ13316.
    PRIDEiQ13316.

    PTM databases

    PhosphoSiteiQ13316.

    Expressioni

    Tissue specificityi

    Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

    Gene expression databases

    BgeeiQ13316.
    CleanExiHS_DMP1.
    GenevestigatoriQ13316.

    Organism-specific databases

    HPAiHPA037465.

    Interactioni

    Subunit structurei

    Interacts with importin alpha.1 Publication

    Protein-protein interaction databases

    BioGridi108098. 1 interaction.
    STRINGi9606.ENSP00000340935.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13316.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi364 – 3663Cell attachment siteSequence Analysis

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG86154.
    HOGENOMiHOG000220909.
    HOVERGENiHBG073257.
    InParanoidiQ13316.
    OMAiQEGLQSH.
    OrthoDBiEOG7F24TN.
    PhylomeDBiQ13316.
    TreeFamiTF337029.

    Family and domain databases

    InterProiIPR009889. DMP1.
    [Graphical view]
    PANTHERiPTHR23400. PTHR23400. 1 hit.
    PfamiPF07263. DMP1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13316-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MKISILLMFL WGLSCALPVT RYQNNESEDS EEWKGHLAQA PTPPLESSES    50
    SEGSKVSSEE QANEDPSDST QSEEGLGSDD HQYIYRLAGG FSRSTGKGGD 100
    DKDDDEDDSG DDTFGDDDSG PGPKDRQEGG NSRLGSDEDS DDTIQASEES 150
    APQGQDSAQD TTSESRELDN EDRVDSKPEG GDSTQESESE EHWVGGGSDG 200
    ESSHGDGSEL DDEGMQSDDP ESIRSERGNS RMNSAGMKSK ESGENSEQAN 250
    TQDSGGSQLL EHPSRKIFRK SRISEEDDRS ELDDNNTMEE VKSDSTENSN 300
    SRDTGLSQPR RDSKGDSQED SKENLSQEES QNVDGPSSES SQEANLSSQE 350
    NSSESQEEVV SESRGDNPDP TTSYVEDQED SDSSEEDSSH TLSHSKSESR 400
    EEQADSESSE SLNFSEESPE SPEDENSSSQ EGLQSHSSSA ESQSEESHSE 450
    EDDSDSQDSS RSKEDSNSTE SKSSSEEDGQ LKNIEIESRK LTVDAYHNKP 500
    IGDQDDNDCQ DGY 513
    Length:513
    Mass (Da):55,782
    Last modified:January 1, 1998 - v2
    Checksum:i2C1FDE319A5D106F
    GO
    Isoform 2 (identifier: Q13316-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:497
    Mass (Da):54,115
    Checksum:i6E146232B6365507
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691S → C.2 Publications
    Corresponds to variant rs10019009 [ dbSNP | Ensembl ].
    VAR_030750
    Natural varianti117 – 1171D → N in one individual with tumoral calcinosis. 1 Publication
    VAR_030751
    Natural varianti272 – 2721R → H.1 Publication
    Corresponds to variant rs145237146 [ dbSNP | Ensembl ].
    VAR_030752
    Natural varianti463 – 4631K → R.
    Corresponds to variant rs34661425 [ dbSNP | Ensembl ].
    VAR_033848

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei46 – 6116Missing in isoform 2. 1 PublicationVSP_004191Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS3623.1. [Q13316-1]
    CCDS43249.1. [Q13316-2]
    RefSeqiNP_001073380.1. NM_001079911.2. [Q13316-2]
    NP_004398.1. NM_004407.3. [Q13316-1]
    UniGeneiHs.652366.

    Genome annotation databases

    EnsembliENST00000282479; ENSP00000282479; ENSG00000152592. [Q13316-2]
    ENST00000339673; ENSP00000340935; ENSG00000152592. [Q13316-1]
    GeneIDi1758.
    KEGGihsa:1758.
    UCSCiuc003hqv.3. human. [Q13316-1]
    uc003hqw.3. human. [Q13316-2]

    Polymorphism databases

    DMDMi7673998.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS3623.1. [Q13316-1 ]
    CCDS43249.1. [Q13316-2 ]
    RefSeqi NP_001073380.1. NM_001079911.2. [Q13316-2 ]
    NP_004398.1. NM_004407.3. [Q13316-1 ]
    UniGenei Hs.652366.

    3D structure databases

    ProteinModelPortali Q13316.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108098. 1 interaction.
    STRINGi 9606.ENSP00000340935.

    PTM databases

    PhosphoSitei Q13316.

    Polymorphism databases

    DMDMi 7673998.

    Proteomic databases

    PaxDbi Q13316.
    PRIDEi Q13316.

    Protocols and materials databases

    DNASUi 1758.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282479 ; ENSP00000282479 ; ENSG00000152592 . [Q13316-2 ]
    ENST00000339673 ; ENSP00000340935 ; ENSG00000152592 . [Q13316-1 ]
    GeneIDi 1758.
    KEGGi hsa:1758.
    UCSCi uc003hqv.3. human. [Q13316-1 ]
    uc003hqw.3. human. [Q13316-2 ]

    Organism-specific databases

    CTDi 1758.
    GeneCardsi GC04P088571.
    HGNCi HGNC:2932. DMP1.
    HPAi HPA037465.
    MIMi 241520. phenotype.
    600980. gene.
    neXtProti NX_Q13316.
    Orphaneti 289176. Autosomal recessive hypophosphatemic rickets.
    PharmGKBi PA27379.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86154.
    HOGENOMi HOG000220909.
    HOVERGENi HBG073257.
    InParanoidi Q13316.
    OMAi QEGLQSH.
    OrthoDBi EOG7F24TN.
    PhylomeDBi Q13316.
    TreeFami TF337029.

    Enzyme and pathway databases

    Reactomei REACT_163906. ECM proteoglycans.
    SignaLinki Q13316.

    Miscellaneous databases

    GeneWikii DMP1_(gene).
    GenomeRNAii 1758.
    NextBioi 7157.
    PROi Q13316.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13316.
    CleanExi HS_DMP1.
    Genevestigatori Q13316.

    Family and domain databases

    InterProi IPR009889. DMP1.
    [Graphical view ]
    PANTHERi PTHR23400. PTHR23400. 1 hit.
    Pfami PF07263. DMP1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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.

    Entry informationi

    Entry nameiDMP1_HUMAN
    AccessioniPrimary (citable) accession number: Q13316
    Secondary accession number(s): A1L4L3, O43265
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 122 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3