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Protein

Dentin sialophosphoprotein

Gene

DSPP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: ProtInc
  • collagen binding Source: GO_Central
  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processBiomineralization
LigandCalcium, Sialic acid

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3000178 ECM proteoglycans

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dentin sialophosphoprotein
Cleaved into the following 2 chains:
Alternative name(s):
Dentin phosphophoryn
Short name:
DPP
Dentin sialoprotein
Short name:
DSP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DSPP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000152591.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3054 DSPP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
125485 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZW4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta.
See also OMIM:605594
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01228017P → T in DFNA39/DGI1; dominant negative mutation; the mutant protein is retained intracellularly. 2 PublicationsCorresponds to variant dbSNP:rs121912986EnsemblClinVar.1
Dentinogenesis imperfecta, Shields type 2 (DGI2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831 and PubMed:22392858).
Disease descriptionA form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta.
See also OMIM:125490
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03686215A → V in DGI2; dominant negative mutation; results in signal peptide retention; the mutant protein is retained within the rough ER membrane. 2 PublicationsCorresponds to variant dbSNP:rs121912989EnsemblClinVar.1
Natural variantiVAR_05444317P → S in DGI2 AND DGI3; dominant negative mutation; the mutant protein is retained intracellularly. 3 Publications1
Natural variantiVAR_07025318V → D in DGI2; dominant negative mutation; the mutant protein is retained intracellularly. 2 Publications1
Natural variantiVAR_03066168R → W in DGI2. 2 PublicationsCorresponds to variant dbSNP:rs36094464EnsemblClinVar.1
Dentinogenesis imperfecta, Shields type 3 (DGI3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831 and PubMed:22392858).
Disease descriptionA form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.
See also OMIM:125500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07025217P → L in DGI3; the mutant protein is largely retained in the ER. 1 Publication1
Natural variantiVAR_05444317P → S in DGI2 AND DGI3; dominant negative mutation; the mutant protein is retained intracellularly. 3 Publications1
Dentin dysplasia 2 (DTDP2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. DSPP defects causing dentin abnormalities act in a dominant negative manner and include missense, splice-site, frameshift mutations. 5' frameshift mutations cause dentin dysplasia while frameshift mutations at the 3' end cause the more severe dentinogenesis imperfecta phenotype (PubMed:18521831, PubMed:22392858).2 Publications
Disease descriptionA dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones.
See also OMIM:125420
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0368616Y → D in DTDP2; the mutant protein does not translocate into the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs121912988EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1834

MalaCards human disease database

More...
MalaCardsi
DSPP
MIMi125420 phenotype
125490 phenotype
125500 phenotype
605594 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000152591

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99789 Dentin dysplasia type I
99791 Dentin dysplasia type II
166260 Dentinogenesis imperfecta type 2
166265 Dentinogenesis imperfecta type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27507

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DSPP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273974

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 15Sequence analysisAdd BLAST15
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002112016 – 1301Dentin sialophosphoproteinAdd BLAST1286
ChainiPRO_000002112116 – 462Dentin sialoproteinAdd BLAST447
ChainiPRO_0000021122463 – 1301Dentin phosphoproteinAdd BLAST839

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi49N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi81N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi150N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi191N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi209N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi222N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei259Phosphoserine; by CK1Sequence analysis1
Glycosylationi275N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei301PhosphoserineBy similarity1
Glycosylationi336N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi387N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

DSP is glycosylated.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NZW4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZW4

ProteomicsDB human proteome resource

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ProteomicsDBi
83522

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NZW4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZW4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000152591 Expressed in 151 organ(s), highest expression level in myocardium

CleanEx database of gene expression profiles

More...
CleanExi
HS_DSPP

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZW4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036230

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FBLN7.By similarity

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000282478

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9NZW4

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi488 – 490Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi439 – 1301Asp/Ser-richAdd BLAST863

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410JAJ8 Eukaryota
ENOG4111CIV LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000111489

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG098252

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NZW4

Identification of Orthologs from Complete Genome Data

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OMAi
DFDDESM

Database of Orthologous Groups

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OrthoDBi
EOG091G0DJR

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NZW4

TreeFam database of animal gene trees

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TreeFami
TF318563

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q9NZW4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKIITYFCIW AVAWAIPVPQ SKPLERHVEK SMNLHLLARS NVSVQDELNA
60 70 80 90 100
SGTIKESGVL VHEGDRGRQE NTQDGHKGEG NGSKWAEVGG KSFSTYSTLA
110 120 130 140 150
NEEGNIEGWN GDTGKAETYG HDGIHGKEEN ITANGIQGQV SIIDNAGATN
160 170 180 190 200
RSNTNGNTDK NTQNGDVGDA GHNEDVAVVQ EDGPQVAGSN NSTDNEDEII
210 220 230 240 250
ENSCRNEGNT SEITPQINSK RNGTKEAEVT PGTGEDAGLD NSDGSPSGNG
260 270 280 290 300
ADEDEDEGSG DDEDEEAGNG KDSSNNSKGQ EGQDHGKEDD HDSSIGQNSD
310 320 330 340 350
SKEYYDPEGK EDPHNEVDGD KTSKSEENSA GIPEDNGSQR IEDTQKLNHR
360 370 380 390 400
ESKRVENRIT KESETHAVGK SQDKGIEIKG PSSGNRNITK EVGKGNEGKE
410 420 430 440 450
DKGQHGMILG KGNVKTQGEV VNIEGPGQKS EPGNKVGHSN TGSDSNSDGY
460 470 480 490 500
DSYDFDDKSM QGDDPNSSDE SNGNDDANSE SDNNSSSRGD ASYNSDESKD
510 520 530 540 550
NGNGSDSKGA EDDDSDSTSD TNNSDSNGNG NNGNDDNDKS DSGKGKSDSS
560 570 580 590 600
DSDSSDSSNS SDSSDSSDSD SSDSNSSSDS DSSDSDSSDS SDSDSSDSSN
610 620 630 640 650
SSDSSDSSDS SDSSDSSDSS DSKSDSSKSE SDSSDSDSKS DSSDSNSSDS
660 670 680 690 700
SDNSDSSDSS NSSNSSDSSD SSDSSDSSSS SDSSNSSDSS DSSDSSNSSE
710 720 730 740 750
SSDSSDSSDS DSSDSSDSSN SNSSDSDSSN SSDSSDSSNS SDSSDSSDSS
760 770 780 790 800
NSSDSSDSSD SSNSSDSSDS SDSSDSSDSS NSSDSNDSSN SSDSSDSSNS
810 820 830 840 850
SDSSNSSDSS DSSDSSDSDS SNSSDSSNSS DSSDSSNSSD SSDSSDSSDG
860 870 880 890 900
SDSDSSNRSD SSNSSDSSDS SDSSNSSDSS DSSDSNESSN SSDSSDSSNS
910 920 930 940 950
SDSDSSDSSN SSDSSDSSNS SDSSESSNSS DNSNSSDSSN SSDSSDSSDS
960 970 980 990 1000
SNSSDSSNSS DSSNSSDSSD SNSSDSSDSS NSSDSSDSSD SSDSSDSSDS
1010 1020 1030 1040 1050
SNSSDSSDSS DSSDSSNSSD SSNSSDSSNS SDSSDSSDSS DSSDSSDSSD
1060 1070 1080 1090 1100
SSDSSNSSDS SDSSDSSDSS DSSDSSDSSD SSESSDSSDS SNSSDSSDSS
1110 1120 1130 1140 1150
DSSDSSDSSD SSDSSDSSDS SNSSDSSDSS DSSDSSDSSN SSDSSDSSES
1160 1170 1180 1190 1200
SDSSDSSDSS DSSDSSDSSD SSDSSDSSNS SDSSDSSDSS DSSDSSDSSD
1210 1220 1230 1240 1250
SSDSSDSSDS SDSSDSSDSS DSSDSSDSSD SNESSDSSDS SDSSDSSNSS
1260 1270 1280 1290 1300
DSSDSSDSSD STSDSNDESD SQSKSGNGNN NGSDSDSDSE GSDSNHSTSD

D
Length:1,301
Mass (Da):131,151
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0D86B52F5E53D05
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti673D → DSSDSSS in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti734 – 739Missing in AAF42472 (PubMed:10706475).Curated6
Sequence conflicti799N → D in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti836S → C in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti850G → S in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti875N → NSSD in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti960S → G in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1002N → D in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1022S → G in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1029N → D in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1029N → D in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1044D → N in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1050D → N in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1056N → D in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1056N → D in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1062D → G in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1077D → E in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1083E → D in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1083E → D in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1090 – 1140Missing in AAF42472 (PubMed:10706475).CuratedAdd BLAST51
Sequence conflicti1090 – 1140Missing in AAD16120 (PubMed:9879917).CuratedAdd BLAST51
Sequence conflicti1143D → E in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1149E → D in AAF42472 (PubMed:10706475).Curated1
Sequence conflicti1152D → N in AAD16120 (PubMed:9879917).Curated1
Sequence conflicti1180S → R in AAD16120 (PubMed:9879917).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0368616Y → D in DTDP2; the mutant protein does not translocate into the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs121912988EnsemblClinVar.1
Natural variantiVAR_03686215A → V in DGI2; dominant negative mutation; results in signal peptide retention; the mutant protein is retained within the rough ER membrane. 2 PublicationsCorresponds to variant dbSNP:rs121912989EnsemblClinVar.1
Natural variantiVAR_07025217P → L in DGI3; the mutant protein is largely retained in the ER. 1 Publication1
Natural variantiVAR_05444317P → S in DGI2 AND DGI3; dominant negative mutation; the mutant protein is retained intracellularly. 3 Publications1
Natural variantiVAR_01228017P → T in DFNA39/DGI1; dominant negative mutation; the mutant protein is retained intracellularly. 2 PublicationsCorresponds to variant dbSNP:rs121912986EnsemblClinVar.1
Natural variantiVAR_07025318V → D in DGI2; dominant negative mutation; the mutant protein is retained intracellularly. 2 Publications1
Natural variantiVAR_01228118V → F in DFNA39/DGI1 and DGI3. 2 PublicationsCorresponds to variant dbSNP:rs121912987EnsemblClinVar.1
Natural variantiVAR_03066168R → W in DGI2. 2 PublicationsCorresponds to variant dbSNP:rs36094464EnsemblClinVar.1
Natural variantiVAR_047551243D → N. Corresponds to variant dbSNP:rs3750025EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF163151 Genomic DNA Translation: AAF42472.1
AC093895 Genomic DNA No translation available.
AF094508 mRNA Translation: AAD16120.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS43248.1

NCBI Reference Sequences

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RefSeqi
NP_055023.2, NM_014208.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.678914

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000399271; ENSP00000382213; ENSG00000152591

Database of genes from NCBI RefSeq genomes

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GeneIDi
1834

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1834

UCSC genome browser

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UCSCi
uc003hqu.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF163151 Genomic DNA Translation: AAF42472.1
AC093895 Genomic DNA No translation available.
AF094508 mRNA Translation: AAD16120.1
CCDSiCCDS43248.1
RefSeqiNP_055023.2, NM_014208.3
UniGeneiHs.678914

3D structure databases

ProteinModelPortaliQ9NZW4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000282478

PTM databases

iPTMnetiQ9NZW4
PhosphoSitePlusiQ9NZW4

Polymorphism and mutation databases

BioMutaiDSPP
DMDMi215273974

Proteomic databases

PaxDbiQ9NZW4
PRIDEiQ9NZW4
ProteomicsDBi83522

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399271; ENSP00000382213; ENSG00000152591
GeneIDi1834
KEGGihsa:1834
UCSCiuc003hqu.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1834
DisGeNETi1834
EuPathDBiHostDB:ENSG00000152591.12

GeneCards: human genes, protein and diseases

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GeneCardsi
DSPP
HGNCiHGNC:3054 DSPP
HPAiHPA036230
MalaCardsiDSPP
MIMi125420 phenotype
125485 gene
125490 phenotype
125500 phenotype
605594 phenotype
neXtProtiNX_Q9NZW4
OpenTargetsiENSG00000152591
Orphaneti99789 Dentin dysplasia type I
99791 Dentin dysplasia type II
166260 Dentinogenesis imperfecta type 2
166265 Dentinogenesis imperfecta type 3
PharmGKBiPA27507

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410JAJ8 Eukaryota
ENOG4111CIV LUCA
GeneTreeiENSGT00730000111489
HOVERGENiHBG098252
InParanoidiQ9NZW4
OMAiDFDDESM
OrthoDBiEOG091G0DJR
PhylomeDBiQ9NZW4
TreeFamiTF318563

Enzyme and pathway databases

ReactomeiR-HSA-3000178 ECM proteoglycans

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Dentin_sialophosphoprotein_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1834

Protein Ontology

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PROi
PR:Q9NZW4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152591 Expressed in 151 organ(s), highest expression level in myocardium
CleanExiHS_DSPP
GenevisibleiQ9NZW4 HS

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDSPP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZW4
Secondary accession number(s): A8MUI0, O95815
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2001
Last sequence update: November 25, 2008
Last modified: December 5, 2018
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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