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DSPP dentin sialophosphoprotein [ Homo sapiens (human) ]

Gene ID: 1834, updated on 8-Oct-2018

Summary

Official Symbol
DSPPprovided by HGNC
Official Full Name
dentin sialophosphoproteinprovided by HGNC
Primary source
HGNC:HGNC:3054
See related
Ensembl:ENSG00000152591 MIM:125485; Vega:OTTHUMG00000161061
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
DPP; DSP; DGI1; DMP3; DFNA39
Summary
This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See DSPP in Genome Data Viewer
Location:
4q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (87608529..87616873)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88529681..88538025)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377321 Neighboring gene SPARC like 1 Neighboring gene uncharacterized LOC105377323 Neighboring gene dentin matrix acidic phosphoprotein 1 Neighboring gene uncharacterized LOC105377324

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
MedGen: C1854146 OMIM: 605594 GeneReviews: Not available
Compare labs
Denticles
MedGen: C1527284 OMIM: 125420 GeneReviews: Not available
Compare labs
Dentinogenesis imperfecta - Shield's type II
MedGen: C0205730 OMIM: 125490 GeneReviews: Not available
Compare labs
Dentinogenesis imperfecta - Shield's type III
MedGen: C0399378 OMIM: 125500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-03-27)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-03-27)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog

Pathways from BioSystems

  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
collagen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biomineral tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cartilage development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to dexamethasone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to hormone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dentinogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
hair follicle maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
odontoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ossification TAS
Traceable Author Statement
more info
PubMed 
positive regulation of enamel mineralization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of odontoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of odontoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to carbohydrate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to transforming growth factor beta IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dentin sialophosphoprotein
Names
dentin phosphophoryn
dentin phosphoprotein
dentin phosphoryn
dentin sialoprotein

NCBI Reference Sequences (RefSeq)

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

  1. NG_011595.1 RefSeqGene

    Range
    5001..13345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1242

mRNA and Protein(s)

  1. NM_014208.3NP_055023.2  dentin sialophosphoprotein preproprotein

    See identical proteins and their annotated locations for NP_055023.2

    Status: REVIEWED

    Source sequence(s)
    AC093895, AF163151
    Consensus CDS
    CCDS43248.1
    UniProtKB/Swiss-Prot
    Q9NZW4
    Related
    ENSP00000382213.1, ENST00000399271.6
    Conserved Domains (1) summary
    PHA02664
    Location:217343
    PHA02664; hypothetical protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    87608529..87616873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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