Q9NZW4 (DSPP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dentin sialophosphoprotein

Cleaved into the following 2 chains:

1. Dentin phosphoprotein
   Alternative name(s):
   Dentin phosphophoryn
   Short name=DPP
2. Dentin sialoprotein
   Short name=DSP

Gene names

Name:

DSPP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1301 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	Interacts with FBLN7 By similarity.
Subcellular location	Secreted › extracellular space › extracellular matrix.
Tissue specificity	Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts.
Post-translational modification	DSP is glycosylated.
Involvement in disease	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]: A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Dentinogenesis imperfecta 1 (DGI1) [MIM:125490]: Autosomal dominant disorder in which both the primary and the permanent teeth are affected. It occurs with an incidence of 1:8000 live births. The teeth are amber and opalescent, the pulp chamber being obliterated by abnormal dentin. The enamel, although unaffected, tends to fracture, which makes dentin undergo rapid attrition, leading to shortening of the teeth. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]: Patients with DGI3 do not have stigmata of osteogenesis imperfecta. The finding that a single defects in the DSPP gene causes both phenotypic patterns of DGI2 and DGI3 strongly supports the conclusion that these two disorders are not separate diseases but rather the phenotypic variation of a single genetic defect. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Dentin dysplasia 2 (DTDP2) [MIM:125420]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Deafness Disease mutation
Domain	Signal
Ligand	Calcium Sialic acid
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	biomineral tissue development Inferred from electronic annotation. Source: UniProtKB-KW cellular response to cell-matrix adhesion Inferred from electronic annotation. Source: Compara ossification Traceable author statement Ref.3. Source: ProtInc skeletal system development Traceable author statement PubMed 8995371. Source: ProtInc
Cellular_component	proteinaceous extracellular matrix Traceable author statement PubMed 8995371. Source: ProtInc
Molecular_function	calcium ion binding Traceable author statement Ref.3. Source: ProtInc collagen binding Traceable author statement Ref.3. Source: ProtInc extracellular matrix structural constituent Traceable author statement PubMed 8995371. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 15	15	Potential
	Chain	16 – 1301	1286	Dentin sialophosphoprotein		PRO_0000021120
	Chain	16 – 462	447	Dentin sialoprotein		PRO_0000021121
	Chain	463 – 1301	839	Dentin phosphoprotein		PRO_0000021122
Regions
	Motif	488 – 490	3	Cell attachment site Potential
	Compositional bias	439 – 1301	863	Asp/Ser-rich
Amino acid modifications
	Modified residue	259	1	Phosphoserine; by CK1 Potential
	Modified residue	301	1	Phosphoserine By similarity
	Glycosylation	41	1	N-linked (GlcNAc...) Potential
	Glycosylation	49	1	N-linked (GlcNAc...) Potential
	Glycosylation	81	1	N-linked (GlcNAc...) Potential
	Glycosylation	130	1	N-linked (GlcNAc...) Potential
	Glycosylation	150	1	N-linked (GlcNAc...) Potential
	Glycosylation	190	1	N-linked (GlcNAc...) Potential
	Glycosylation	191	1	N-linked (GlcNAc...) Potential
	Glycosylation	209	1	N-linked (GlcNAc...) Potential
	Glycosylation	222	1	N-linked (GlcNAc...) Potential
	Glycosylation	275	1	N-linked (GlcNAc...) Potential
	Glycosylation	336	1	N-linked (GlcNAc...) Potential
	Glycosylation	387	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	6	1	Y → D in DTDP2; causes a failure of translocation of the encoded proteins into the endoplasmic reticulum and is therefore likely to lead to a loss of function of both DSP and DPP. Ref.6		VAR_036861
	Natural variant	15	1	A → V in DGI2. Ref.7		VAR_036862
	Natural variant	17	1	P → S in DGI2. Ref.10		VAR_054443
	Natural variant	17	1	P → T in DFNA39/DGI1. Ref.5 Corresponds to variant rs28929492 [ dbSNP | Ensembl ].		VAR_012280
	Natural variant	18	1	V → F in DFNA39/DGI1 and DGI3. Ref.5 Ref.8		VAR_012281
	Natural variant	68	1	R → W in DGI2. Ref.7 Ref.9 Corresponds to variant rs36094464 [ dbSNP | Ensembl ].		VAR_030661
	Natural variant	243	1	D → N. Corresponds to variant rs3750025 [ dbSNP | Ensembl ].		VAR_047551
Experimental info
	Sequence conflict	673	1	D → DSSDSSS in AAF42472. Ref.1
	Sequence conflict	734 – 739	6	Missing in AAF42472. Ref.1
	Sequence conflict	799	1	N → D in AAD16120. Ref.3
	Sequence conflict	836	1	S → C in AAD16120. Ref.3
	Sequence conflict	850	1	G → S in AAF42472. Ref.1
	Sequence conflict	875	1	N → NSSD in AAF42472. Ref.1
	Sequence conflict	960	1	S → G in AAF42472. Ref.1
	Sequence conflict	1002	1	N → D in AAD16120. Ref.3
	Sequence conflict	1022	1	S → G in AAD16120. Ref.3
	Sequence conflict	1029	1	N → D in AAF42472. Ref.1
	Sequence conflict	1029	1	N → D in AAD16120. Ref.3
	Sequence conflict	1044	1	D → N in AAF42472. Ref.1
	Sequence conflict	1050	1	D → N in AAD16120. Ref.3
	Sequence conflict	1056	1	N → D in AAF42472. Ref.1
	Sequence conflict	1056	1	N → D in AAD16120. Ref.3
	Sequence conflict	1062	1	D → G in AAF42472. Ref.1
	Sequence conflict	1077	1	D → E in AAD16120. Ref.3
	Sequence conflict	1083	1	E → D in AAF42472. Ref.1
	Sequence conflict	1083	1	E → D in AAD16120. Ref.3
	Sequence conflict	1090 – 1140	51	Missing in AAF42472. Ref.1
	Sequence conflict	1090 – 1140	51	Missing in AAD16120. Ref.3
	Sequence conflict	1143	1	D → E in AAF42472. Ref.1
	Sequence conflict	1149	1	E → D in AAF42472. Ref.1
	Sequence conflict	1152	1	D → N in AAD16120. Ref.3
	Sequence conflict	1180	1	S → R in AAD16120. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9NZW4 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: E0D86B52F5E53D05	FASTA	1,301	131,151
	10 20 30 40 50 60 MKIITYFCIW AVAWAIPVPQ SKPLERHVEK SMNLHLLARS NVSVQDELNA SGTIKESGVL 70 80 90 100 110 120 VHEGDRGRQE NTQDGHKGEG NGSKWAEVGG KSFSTYSTLA NEEGNIEGWN GDTGKAETYG 130 140 150 160 170 180 HDGIHGKEEN ITANGIQGQV SIIDNAGATN RSNTNGNTDK NTQNGDVGDA GHNEDVAVVQ 190 200 210 220 230 240 EDGPQVAGSN NSTDNEDEII ENSCRNEGNT SEITPQINSK RNGTKEAEVT PGTGEDAGLD 250 260 270 280 290 300 NSDGSPSGNG ADEDEDEGSG DDEDEEAGNG KDSSNNSKGQ EGQDHGKEDD HDSSIGQNSD 310 320 330 340 350 360 SKEYYDPEGK EDPHNEVDGD KTSKSEENSA GIPEDNGSQR IEDTQKLNHR ESKRVENRIT 370 380 390 400 410 420 KESETHAVGK SQDKGIEIKG PSSGNRNITK EVGKGNEGKE DKGQHGMILG KGNVKTQGEV 430 440 450 460 470 480 VNIEGPGQKS EPGNKVGHSN TGSDSNSDGY DSYDFDDKSM QGDDPNSSDE SNGNDDANSE 490 500 510 520 530 540 SDNNSSSRGD ASYNSDESKD NGNGSDSKGA EDDDSDSTSD TNNSDSNGNG NNGNDDNDKS 550 560 570 580 590 600 DSGKGKSDSS DSDSSDSSNS SDSSDSSDSD SSDSNSSSDS DSSDSDSSDS SDSDSSDSSN 610 620 630 640 650 660 SSDSSDSSDS SDSSDSSDSS DSKSDSSKSE SDSSDSDSKS DSSDSNSSDS SDNSDSSDSS 670 680 690 700 710 720 NSSNSSDSSD SSDSSDSSSS SDSSNSSDSS DSSDSSNSSE SSDSSDSSDS DSSDSSDSSN 730 740 750 760 770 780 SNSSDSDSSN SSDSSDSSNS SDSSDSSDSS NSSDSSDSSD SSNSSDSSDS SDSSDSSDSS 790 800 810 820 830 840 NSSDSNDSSN SSDSSDSSNS SDSSNSSDSS DSSDSSDSDS SNSSDSSNSS DSSDSSNSSD 850 860 870 880 890 900 SSDSSDSSDG SDSDSSNRSD SSNSSDSSDS SDSSNSSDSS DSSDSNESSN SSDSSDSSNS 910 920 930 940 950 960 SDSDSSDSSN SSDSSDSSNS SDSSESSNSS DNSNSSDSSN SSDSSDSSDS SNSSDSSNSS 970 980 990 1000 1010 1020 DSSNSSDSSD SNSSDSSDSS NSSDSSDSSD SSDSSDSSDS SNSSDSSDSS DSSDSSNSSD 1030 1040 1050 1060 1070 1080 SSNSSDSSNS SDSSDSSDSS DSSDSSDSSD SSDSSNSSDS SDSSDSSDSS DSSDSSDSSD 1090 1100 1110 1120 1130 1140 SSESSDSSDS SNSSDSSDSS DSSDSSDSSD SSDSSDSSDS SNSSDSSDSS DSSDSSDSSN 1150 1160 1170 1180 1190 1200 SSDSSDSSES SDSSDSSDSS DSSDSSDSSD SSDSSDSSNS SDSSDSSDSS DSSDSSDSSD 1210 1220 1230 1240 1250 1260 SSDSSDSSDS SDSSDSSDSS DSSDSSDSSD SNESSDSSDS SDSSDSSNSS DSSDSSDSSD 1270 1280 1290 1300 STSDSNDESD SQSKSGNGNN NGSDSDSDSE GSDSNHSTSD D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of a human dentin sialophosphoprotein gene." Gu K., Chang S.R., Ritchie H.H., Clarkson B.H., Rutherford R.B. Eur. J. Oral Sci. 108:35-42(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Human dentin phosphophoryn nucleotide and amino acid sequence." Gu K., Chang S.R., Slaven M.S., Clarkson B.H., Rutherford R.B., Ritchie H.H. Eur. J. Oral Sci. 106:1043-1047(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 463-1301. Tissue: Tooth.
[4]	"DSPP mutation in dentinogenesis imperfecta Shields type II." Zhang X., Zhao J., Li C., Gao S., Qiu C., Liu P., Wu G., Qiang B., Lo W.H.Y., Shen Y. Nat. Genet. 27:151-152(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN DGI1.
[5]	"Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP." Xiao S., Yu C., Chou X., Yuan W., Wang Y., Bu L., Fu G., Qian M., Yang J., Shi Y., Hu L., Han B., Wang Z., Huang W., Liu J., Chen Z., Zhao G., Kong X. Nat. Genet. 27:201-204(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFNA39/DGI1 THR-17 AND PHE-18.
[6]	"Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization." Rajpar M.H., Koch M.J., Davies R.M., Mellody K.T., Kielty C.M., Dixon M.J. Hum. Mol. Genet. 11:2559-2565(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DTDP2 ASP-6, CHARACTERIZATION OF VARIANT DTDP2 ASP-6.
[7]	"Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II." Malmgren B., Lindskog S., Elgadi A., Norgren S. Hum. Genet. 114:491-498(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DGI2 VAL-15 AND TRP-68.
[8]	"Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II." Kim J.-W., Hu J.C.-C., Lee J.-I., Moon S.-K., Kim Y.-J., Jang K.-T., Lee S.-H., Kim C.-C., Hahn S.-H., Simmer J.P. Hum. Genet. 116:186-191(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DGI3 PHE-18.
[9]	"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: VARIANT TRP-68.
[10]	"Disorders of human dentin." Hart P.S., Hart T.C. Cells Tissues Organs 186:70-77(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DGI2 SER-17.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF163151 Genomic DNA. Translation: AAF42472.1. AC093895 Genomic DNA. No translation available. AF094508 mRNA. Translation: AAD16120.1.
IPI	IPI00872967.
RefSeq	NP_055023.2. NM_014208.3.
UniGene	Hs.678914.
3D structure databases
ProteinModelPortal	Q9NZW4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000382213.
PTM databases
PhosphoSite	Q9NZW4.
Polymorphism databases
DMDM	215273974.
Proteomic databases
PaxDb	Q9NZW4.
PRIDE	Q9NZW4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282478; ENSP00000282478; ENSG00000152591. ENST00000399271; ENSP00000382213; ENSG00000152591.
GeneID	1834.
KEGG	hsa:1834.
UCSC	uc003hqu.3. human.
Organism-specific databases
CTD	1834.
GeneCards	GC04P088529.
HGNC	HGNC:3054. DSPP.
HPA	HPA036230.
MIM	125420. phenotype. 125485. gene. 125490. phenotype. 125500. phenotype. 605594. phenotype.
neXtProt	NX_Q9NZW4.
Orphanet	1653. Dentin dysplasia. 166260. Dentinogenesis imperfecta type 2. 166265. Dentinogenesis imperfecta type 3.
PharmGKB	PA27507.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOVERGEN	HBG098252.
OMA	ERESKVQ.
OrthoDB	EOG41RPVG.
Gene expression databases
ArrayExpress	Q9NZW4.
Bgee	Q9NZW4.
CleanEx	HS_DSPP.
Genevestigator	Q9NZW4.
GermOnline	ENSG00000152591. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	1834.
NextBio	7491.
PMAP-CutDB	A8MUI0.
SOURCE	Search...

Entry information

Entry name

DSPP_HUMAN

Accession

Primary (citable) accession number: Q9NZW4
Secondary accession number(s): A8MUI0, O95815

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 13, 2001
Last sequence update:	November 25, 2008
Last modified:	May 1, 2013
This is version 97 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.