LOCUS       NM_014208               4331 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.
ACCESSION   NM_014208
VERSION     NM_014208.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4331)
  AUTHORS   Hassib,N.F., Mehrez,M., Mostafa,M.I. and Abdel-Hamid,M.S.
  TITLE     Isolated dentinogenesis imperfecta: Novel DSPP variants and
            insights on genetic counselling
  JOURNAL   Clin Oral Investig 28 (5), 254 (2024)
   PUBMED   38630328
  REMARK    GeneRIF: Isolated dentinogenesis imperfecta: Novel DSPP variants
            and insights on genetic counselling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4331)
  AUTHORS   Jia,J., Bian,Z. and Song,Y.
  TITLE     The Role of DSPP in Dentine Formation and Hereditary Dentine
            Defects
  JOURNAL   Chin J Dent Res 27 (1), 17-28 (2024)
   PUBMED   38546516
  REMARK    GeneRIF: The Role of DSPP in Dentine Formation and Hereditary
            Dentine Defects.
            Review article
REFERENCE   3  (bases 1 to 4331)
  AUTHORS   Zhang,Z., Huang,G., Huang,Y., Liu,S., Chen,F., Gao,X., Dong,Y. and
            Tian,H.
  TITLE     Novel dentin sialophosphoprotein gene frameshift mutations affect
            dentin mineralization
  JOURNAL   Arch Oral Biol 151, 105701 (2023)
   PUBMED   37084484
  REMARK    GeneRIF: Novel dentin sialophosphoprotein gene frameshift mutations
            affect dentin mineralization.
REFERENCE   4  (bases 1 to 4331)
  AUTHORS   Du,Q., Cao,L., Yan,N., Kang,S., Lin,M., Cao,P., Jia,R., Wang,C.,
            Qi,H., Yu,Y., Zou,J. and Yang,J.
  TITLE     Identification of DSPP novel variants and phenotype analysis in
            dentinogenesis dysplasia Shields type II patients
  JOURNAL   Clin Oral Investig 27 (7), 3885-3894 (2023)
   PUBMED   37017752
  REMARK    GeneRIF: Identification of DSPP novel variants and phenotype
            analysis in dentinogenesis dysplasia Shields type II patients.
REFERENCE   5  (bases 1 to 4331)
  AUTHORS   Suzuki,S., Haruyama,N., Nishimura,F. and Kulkarni,A.B.
  TITLE     Dentin sialophosphoprotein and dentin matrix protein-1: Two highly
            phosphorylated proteins in mineralized tissues
  JOURNAL   Arch Oral Biol 57 (9), 1165-1175 (2012)
   PUBMED   22534175
  REMARK    Review article
REFERENCE   6  (bases 1 to 4331)
  AUTHORS   Gu,K., Chang,S., Ritchie,H.H., Clarkson,B.H. and Rutherford,R.B.
  TITLE     Molecular cloning of a human dentin sialophosphoprotein gene
  JOURNAL   Eur J Oral Sci 108 (1), 35-42 (2000)
   PUBMED   10706475
REFERENCE   7  (bases 1 to 4331)
  AUTHORS   Dean,J.A., Hartsfield,J.K. Jr., Wright,J.T. and Hart,T.C.
  TITLE     Dentin dysplasia, type II linkage to chromosome 4q
  JOURNAL   J Craniofac Genet Dev Biol 17 (4), 172-177 (1997)
   PUBMED   9493074
REFERENCE   8  (bases 1 to 4331)
  AUTHORS   MacDougall,M., Simmons,D., Luan,X., Nydegger,J., Feng,J. and
            Gu,T.T.
  TITLE     Dentin phosphoprotein and dentin sialoprotein are cleavage products
            expressed from a single transcript coded by a gene on human
            chromosome 4. Dentin phosphoprotein DNA sequence determination
  JOURNAL   J Biol Chem 272 (2), 835-842 (1997)
   PUBMED   8995371
REFERENCE   9  (bases 1 to 4331)
  AUTHORS   MacDougall,M., Simmons,D., Luan,X., Gu,T.T. and DuPont,B.R.
  TITLE     Assignment of dentin sialophosphoprotein (DSPP) to the critical
            DGI2 locus on human chromosome 4 band q21.3 by in situ
            hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 121-122 (1997)
   PUBMED   9533027
REFERENCE   10 (bases 1 to 4331)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF163151.2 and AC093895.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 2, 2006 this sequence version replaced NM_014208.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651931.1/ ENSP00000498766.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AF163151.2         1750-1841
            93-171              AF163151.2         4102-4180
            172-255             AF163151.2         5320-5403
            256-1013            AF163151.2         5537-6294
            1014-1020           AC093895.3         15770-15776
            1021-1242           AF163151.2         6302-6523
            1243-2173           AF163151.2         7000-7930
            2174-4331           AC093895.3         17406-19563
FEATURES             Location/Qualifiers
     source          1..4331
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q22.1"
     gene            1..4331
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /note="dentin sialophosphoprotein"
                     /db_xref="GeneID:1834"
                     /db_xref="HGNC:HGNC:3054"
                     /db_xref="MIM:125485"
     exon            1..92
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /inference="alignment:Splign:2.1.0"
     exon            93..171
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..4026
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /note="dentin phosphophoryn; dentin phosphoprotein; dentin
                     sialoprotein; dentin phosphoryn; deafness, autosomal
                     dominant 39"
                     /codon_start=1
                     /product="dentin sialophosphoprotein preproprotein"
                     /protein_id="NP_055023.2"
                     /db_xref="CCDS:CCDS43248.1"
                     /db_xref="GeneID:1834"
                     /db_xref="HGNC:HGNC:3054"
                     /db_xref="MIM:125485"
                     /translation="MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSV
                     QDELNASGTIKESGVLVHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLANE
                     EGNIEGWNGDTGKAETYGHDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDK
                     NTQNGDVGDAGHNEDVAVVQEDGPQVAGSNNSTDNEDEIIENSCRNEGNTSEITPQIN
                     SKRNGTKEAEVTPGTGEDAGLDNSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNN
                     SKGQEGQDHGKEDDHDSSIGQNSDSKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPE
                     DNGSQRIEDTQKLNHRESKRVENRITKESETHAVGKSQDKGIEIKGPSSGNRNITKEV
                     GKGNEGKEDKGQHGMILGKGNVKTQGEVVNIEGPGQKSEPGNKVGHSNTGSDSNSDGY
                     DSYDFDDKSMQGDDPNSSDESNGNDDANSESDNNSSSRGDASYNSDESKDNGNGSDSK
                     GAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKSDSGKGKSDSSDSDSSDSSNSSDSSDS
                     SDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSKS
                     DSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSSNSSNSSDSSDSSDSSDSSSSSD
                     SSNSSDSSDSSDSSNSSESSDSSDSSDSDSSDSSDSSNSNSSDSDSSNSSDSSDSSNS
                     SDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSNDSSNSSDSSDSS
                     NSSDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSDSSDSSDSSDGSDSDSS
                     NRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNSSDSDSSDSSNSSDS
                     SDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSSDSSNSSDSSDSN
                     SSDSSDSSNSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSNSSDSSNSSDSSNS
                     SDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSESSDSS
                     DSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDSSD
                     SSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDS
                     SDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSDST
                     SDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSDD"
     exon            172..255
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /inference="alignment:Splign:2.1.0"
     exon            256..1242
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..4331
                     /gene="DSPP"
                     /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atgcaaaagt ccaggacagt gggccacttt cagtcttcaa agagaaagat aagaaattct
       61 ggattttcaa aatccttttg aagcctttta agccattgat tattattatt cctaaagaaa
      121 atgaagataa ttacatattt ttgcatttgg gcagtagcat gggccattcc agttcctcaa
      181 agcaaaccac tggagagaca tgtcgaaaaa tccatgaatt tgcatctcct agcaagatca
      241 aatgtgtcag tacaggatga gttaaatgcc agtggaacca tcaaagaaag tggtgtcctg
      301 gtgcatgaag gtgatagagg aaggcaagag aatacccaag atggtcacaa gggagaaggg
      361 aatggctcta agtgggcaga agtaggaggg aagagttttt ctacatattc cacattagca
      421 aacgaagagg ggaatattga gggctggaat ggggacacag gaaaagcaga aacatatggt
      481 catgatggaa tacatgggaa agaagaaaac atcacagcaa atggcatcca gggacaagta
      541 agcatcattg acaatgctgg agccacaaac agaagcaaca ctaatggaaa tactgataag
      601 aatacccaaa atggggatgt tggcgatgca ggtcacaatg aggatgtcgc tgttgtccaa
      661 gaagatggac ctcaagtagc tggaagcaat aacagtacag acaatgagga tgaaataatt
      721 gagaattcct gtagaaacga gggtaataca agtgaaataa cacctcagat caacagcaag
      781 agaaatggga ctaaggaagc tgaggtaaca ccaggcactg gagaagatgc tggcctggat
      841 aattccgatg ggagtcctag tgggaatgga gcagatgagg atgaagacga gggttctggt
      901 gatgatgaag atgaagaagc agggaatgga aaagacagta gtaataacag caagggccag
      961 gagggccagg accatgggaa agaagatgat catgatagta gcataggtca aaattcagat
     1021 agtaaagaat attatgaccc tgaaggcaaa gaagatcccc ataatgaagt tgatggagac
     1081 aagacctcca agagtgagga gaattctgct ggtattccag aagacaatgg cagccaaaga
     1141 atagaggaca cccagaagct caaccataga gaaagcaaac gcgtagaaaa tagaatcacc
     1201 aaagaatcag agacacatgc tgttgggaag agccaagata agggaataga aatcaagggt
     1261 cccagcagtg gcaacagaaa tattaccaaa gaagttggga aaggcaacga aggtaaagag
     1321 gataaaggac aacatggaat gatcttgggc aaaggcaatg tcaagacaca aggagaggtt
     1381 gtcaacatag aaggacctgg ccaaaaatca gaaccaggaa ataaagttgg acacagcaat
     1441 acaggtagtg acagcaatag tgatggatat gacagttatg attttgatga taagtccatg
     1501 caaggagatg atcccaatag cagtgatgaa tctaatggca atgatgatgc taattcagaa
     1561 agtgacaata acagcagtag ccgaggagat gcttcttata actctgatga atcaaaagat
     1621 aatggcaatg gcagtgactc aaaaggagca gaagatgatg acagtgatag cacatcagac
     1681 actaataata gtgacagtaa tggcaatggt aacaatggga atgatgacaa tgacaaatca
     1741 gacagtggca aaggtaaatc agatagcagt gacagtgata gtagtgatag cagcaatagc
     1801 agtgatagta gtgacagcag tgacagtgac agcagtgata gcaacagtag cagtgatagt
     1861 gacagcagtg acagtgacag cagtgatagc agtgacagtg atagtagtga tagcagcaat
     1921 agcagtgaca gtagtgacag cagtgatagc agtgacagta gtgatagtag tgacagcagt
     1981 gacagcaagt cagacagcag caaatcagag agcgacagca gtgatagtga cagtaagtca
     2041 gacagcagtg acagcaacag cagtgacagt agtgacaaca gtgatagcag cgacagcagc
     2101 aatagcagta acagcagtga tagtagtgac agcagtgata gcagtgacag cagcagtagc
     2161 agtgacagca gcaacagcag tgatagtagt gacagtagtg acagcagcaa tagcagtgag
     2221 agcagtgata gtagtgacag cagtgatagt gacagcagtg atagtagtga cagcagtaat
     2281 agtaacagca gcgatagtga cagcagcaac agcagcgata gcagtgacag cagcaacagc
     2341 agtgacagca gtgatagcag tgacagcagc aacagcagtg acagtagcga tagcagtgac
     2401 agcagcaaca gcagtgacag cagtgatagc agtgacagca gtgatagtag tgacagcagc
     2461 aacagcagtg atagcaacga cagcagcaat agcagtgaca gcagtgatag cagcaacagc
     2521 agtgatagca gcaacagcag tgatagcagt gatagcagtg acagcagtga tagcgacagc
     2581 agcaatagca gtgacagcag taatagtagt gacagcagcg atagcagcaa cagcagtgat
     2641 agcagcgaca gcagcgatag cagtgacggc agtgatagcg acagcagcaa tagaagtgac
     2701 agtagtaata gtagtgacag cagcgatagc agtgacagca gcaacagcag tgacagcagt
     2761 gatagcagtg acagcaacga aagcagcaat agcagtgaca gcagtgatag cagcaacagc
     2821 agtgatagtg acagcagtga tagcagcaac agcagtgaca gcagtgatag cagcaacagc
     2881 agtgatagca gtgaaagcag taatagtagt gacaacagca atagcagtga cagcagcaac
     2941 agcagtgaca gcagtgatag cagtgacagc agtaatagta gtgacagcag caatagcagt
     3001 gacagcagca acagcagtga cagcagtgat agcaatagca gcgacagcag tgacagcagc
     3061 aacagcagcg atagcagtga cagcagtgat agcagtgaca gcagtgacag cagtgatagc
     3121 agcaacagca gtgatagcag tgacagcagt gacagcagtg atagcagtaa tagtagtgac
     3181 agcagcaata gcagtgacag cagcaacagc agtgacagca gcgatagcag tgacagcagc
     3241 gatagcagtg acagcagcga tagcagtgac agcagtgaca gcagcaatag cagtgacagc
     3301 agtgacagca gcgacagcag tgatagcagt gacagcagtg acagcagcga cagcagtgat
     3361 agcagtgaaa gcagtgatag cagtgacagc agcaatagca gtgacagcag cgatagcagc
     3421 gacagcagcg acagcagcga tagcagtgac agcagcgata gcagtgacag cagtgacagc
     3481 agcaatagca gtgacagcag tgacagcagc gacagcagtg atagcagtga cagcagcaac
     3541 agcagtgaca gcagtgacag cagtgaaagc agcgacagca gtgacagcag cgacagcagt
     3601 gacagcagcg atagcagcga cagcagcgac agcagcgata gcagtgacag cagcaatagc
     3661 agtgatagca gcgacagcag tgatagcagt gacagcagcg acagcagcga tagcagcgac
     3721 agcagcgata gtagtgatag cagtgacagc agtgacagca gcgacagcag tgacagcagc
     3781 gacagcagtg acagcagcga cagcagtgac agcaatgaaa gcagcgacag cagtgacagc
     3841 agcgatagca gtgacagcag caacagcagt gacagcagcg acagcagtga tagcagtgac
     3901 agcacatctg acagcaatga tgagagtgac agccagagca agtctggtaa cggtaacaac
     3961 aatggaagtg acagtgacag tgacagtgaa ggcagtgaca gtaaccactc aaccagtgat
     4021 gattagaaca aaagaaaaac ccgtaagatt ccttttgtga aaagtttggt aatgggatag
     4081 gaaaaaaaga tttccaagaa agtaaagaaa ggggagaaat aaacataaga cgtatgtaaa
     4141 caaaaacaac tgggggaatc aaatcaaaca gttggattca gaaccaagac ctaactcctg
     4201 cagagacaga ctctgaatgc atgacctttg gtacatgcct gttaatattc atgttctgaa
     4261 aatattttgt taaaagtgta aatctaaaca taaaagaaca attaaaatat tctttaatac
     4321 ttcacacaga a
//
