LOCUS       NP_085042                579 aa            linear   ROD 09-FEB-2025
DEFINITION  extracellular serine/threonine protein kinase FAM20C isoform 1 [Mus
            musculus].
ACCESSION   NP_085042
VERSION     NP_085042.2
DBSOURCE    REFSEQ: accession NM_030565.6
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 579)
  AUTHORS   Jiang,L., Liu,X., Liu,L., Su,L., Lu,Z., Zhang,H., Guo,Y., Zhang,W.,
            Zhang,S., Xu,W., Zhang,J., Zhang,K., Zhan,Y., Xie,X., Li,R.,
            Dong,X., Jin,H., Zhang,B. and Li,Y.
  TITLE     Knocking out FAM20C in pre-osteoblasts leads to up-regulation of
            osteoclast differentiation to affect long bone development
  JOURNAL   Gene 915, 148396 (2024)
   PUBMED   38552750
  REMARK    GeneRIF: Knocking out FAM20C in pre-osteoblasts leads to
            up-regulation of osteoclast differentiation to affect long bone
            development.
REFERENCE   2  (residues 1 to 579)
  AUTHORS   Liu,P., Li,J., Tang,L., Cong,W., Jin,H., Zhang,H., Cui,B., Yang,S.,
            Xiao,J., Liu,C. and Saiyin,W.
  TITLE     Mutations of family with sequence similarity 20-member C gene
            causing lethal and nonlethal Raine syndrome causes hypophosphatemia
            rickets
  JOURNAL   J Cell Physiol 238 (11), 2556-2569 (2023)
   PUBMED   37698039
  REMARK    GeneRIF: Mutations of family with sequence similarity 20-member C
            gene causing lethal and nonlethal Raine syndrome causes
            hypophosphatemia rickets.
REFERENCE   3  (residues 1 to 579)
  AUTHORS   Naniwa,K., Hirose,K., Usami,Y., Hata,K., Araki,R., Uzawa,N.,
            Komori,T. and Toyosawa,S.
  TITLE     Fam20C overexpression in odontoblasts regulates dentin formation
            and odontoblast differentiation
  JOURNAL   J Mol Histol 54 (4), 329-347 (2023)
   PUBMED   37357253
  REMARK    GeneRIF: Fam20C overexpression in odontoblasts regulates dentin
            formation and odontoblast differentiation.
REFERENCE   4  (residues 1 to 579)
  AUTHORS   Zhang,H., Lu,Y., Kramer,P.R., Benson,M.D., Cheng,Y.L. and Qin,C.
  TITLE     Intracranial calcification in Fam20c-deficient mice recapitulates
            human Raine syndrome
  JOURNAL   Neurosci Lett 802, 137176 (2023)
   PUBMED   36914045
  REMARK    GeneRIF: Intracranial calcification in Fam20c-deficient mice
            recapitulates human Raine syndrome.
REFERENCE   5  (residues 1 to 579)
  AUTHORS   Koike,T., Mikami,T., Tamura,J.I. and Kitagawa,H.
  TITLE     Altered sulfation status of FAM20C-dependent chondroitin sulfate is
            associated with osteosclerotic bone dysplasia
  JOURNAL   Nat Commun 13 (1), 7952 (2022)
   PUBMED   36572689
  REMARK    GeneRIF: Altered sulfation status of FAM20C-dependent chondroitin
            sulfate is associated with osteosclerotic bone dysplasia.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 579)
  AUTHORS   O'Sullivan,J., Bitu,C.C., Daly,S.B., Urquhart,J.E., Barron,M.J.,
            Bhaskar,S.S., Martelli-Junior,H., dos Santos Neto,P.E.,
            Mansilla,M.A., Murray,J.C., Coletta,R.D., Black,G.C. and Dixon,M.J.
  TITLE     Whole-Exome sequencing identifies FAM20A mutations as a cause of
            amelogenesis imperfecta and gingival hyperplasia syndrome
  JOURNAL   Am J Hum Genet 88 (5), 616-620 (2011)
   PUBMED   21549343
REFERENCE   7  (residues 1 to 579)
  AUTHORS   Wang,X., Hao,J., Xie,Y., Sun,Y., Hernandez,B., Yamoah,A.K.,
            Prasad,M., Zhu,Q., Feng,J.Q. and Qin,C.
  TITLE     Expression of FAM20C in the osteogenesis and odontogenesis of mouse
  JOURNAL   J Histochem Cytochem 58 (11), 957-967 (2010)
   PUBMED   20644212
  REMARK    GeneRIF: temporospatial expression profile of FAM20C
REFERENCE   8  (residues 1 to 579)
  AUTHORS   Simpson,M.A., Hsu,R., Keir,L.S., Hao,J., Sivapalan,G., Ernst,L.M.,
            Zackai,E.H., Al-Gazali,L.I., Hulskamp,G., Kingston,H.M.,
            Prescott,T.E., Ion,A., Patton,M.A., Murday,V., George,A. and
            Crosby,A.H.
  TITLE     Mutations in FAM20C are associated with lethal osteosclerotic bone
            dysplasia (Raine syndrome), highlighting a crucial molecule in bone
            development
  JOURNAL   Am J Hum Genet 81 (5), 906-912 (2007)
   PUBMED   17924334
  REMARK    GeneRIF: This study defines the causative role of FAM20C in this
            lethal osteosclerotic disorder and its crucial role in normal bone
            development.
REFERENCE   9  (residues 1 to 579)
  AUTHORS   Hao,J., Narayanan,K., Muni,T., Ramachandran,A. and George,A.
  TITLE     Dentin matrix protein 4, a novel secretory calcium-binding protein
            that modulates odontoblast differentiation
  JOURNAL   J Biol Chem 282 (21), 15357-15365 (2007)
   PUBMED   17369251
REFERENCE   10 (residues 1 to 579)
  AUTHORS   Nalbant,D., Youn,H., Nalbant,S.I., Sharma,S., Cobos,E., Beale,E.G.,
            Du,Y. and Williams,S.C.
  TITLE     FAM20: an evolutionarily conserved family of secreted proteins
            expressed in hematopoietic cells
  JOURNAL   BMC Genomics 6, 11 (2005)
   PUBMED   15676076
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC165444.2 and AC113533.14.
            
            On Feb 7, 2008 this sequence version replaced NP_085042.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK154810.1, SRR1660817.254814.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..579
                     /organism="Mus musculus"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 77.19 cM"
     Protein         1..579
                     /product="extracellular serine/threonine protein kinase
                     FAM20C isoform 1"
                     /EC_number="2.7.11.1"
                     /note="dentin matrix protein 4; golgi-enriched fraction
                     casein kinase; extracellular serine/threonine protein
                     kinase Fam20C; family with sequence similarity 20, member
                     C"
                     /calculated_mol_wt=65635
     Site            11..31
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJS3.1)"
     Region          38..79
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJS3.1)"
     Site            87..88
                     /site_type="cleavage"
                     /note="Cleavage, by MBTPS1.
                     /evidence=ECO:0000250|UniProtKB:Q8IXL6; propagated from
                     UniProtKB/Swiss-Prot (Q5MJS3.1)"
     mat_peptide     88..579
                     /product="Extracellular serine/threonine protein kinase
                     FAM20C. /id=PRO_0000297978"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJS3.1)"
                     /calculated_mol_wt=56438
     Site            96
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q5MJS3.1)"
     Region          104..155
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJS3.1)"
     Region          349..560
                     /region_name="FAM20C_C"
                     /note="C-terminal putative kinase domain of FAM20C (also
                     known as Dentin Matrix Protein 4, DMP4); cd10471"
                     /db_xref="CDD:198462"
     Region          349..560
                     /region_name="Kinase domain.
                     /evidence=ECO:0000250|UniProtKB:Q8IXL6"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5MJS3.1)"
     Site            order(446,453,473)
                     /site_type="active"
                     /note="putative catalytic residues [active]"
                     /db_xref="CDD:198462"
     Site            450..458
                     /site_type="active"
                     /note="putative catalytic loop [active]"
                     /db_xref="CDD:198462"
     Site            order(458,473)
                     /site_type="other"
                     /note="putative metal binding site [ion binding]"
                     /db_xref="CDD:198462"
     Site            473..495
                     /site_type="other"
                     /note="putative activation loop"
                     /db_xref="CDD:198462"
     CDS             1..579
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /coded_by="NM_030565.6:556..2295"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS51681.1"
                     /db_xref="GeneID:80752"
                     /db_xref="MGI:MGI:2136853"
ORIGIN      
        1 mkmilvrrfr vlilvvflla calhiavdll pkldrratrs sgepgcscaq paaeaagpgw
       61 aqarsrpges aggdagwpnk htlrilqdfs sdpasnltsh sleklpsaae pvdhaprgqe
      121 prsppprdpa hrpllrdpgp rprvpppgps gdgsllaklf ehplyqgavp plteddvlfn
      181 vnsdirfnpk aaenpdwphe gaegaeflpt geaavnlypn wlkfhiginr yelysrhnpa
      241 idallrdlgs qkitsvamks ggtqlklimt fqnygqalfk pmkqtreqet ppdffyfsdy
      301 erhnaeiaaf hldrildfrr vppvagrmin mtkeirdvtr dkklwrtffv spannicfyg
      361 ecsyycsteh alcgrpdqie gslaaflpdl slakrktwrn pwrrsyhkrk kaewevdpdy
      421 ceevkqtppy dsghrildim dmtvfdflmg nmdrhhyetf ekfgnetfii hldngrgfgk
      481 yshdelsila plhqccrirr stylrlqlla keehklsllm aeslqhdkva pvlyqlhlea
      541 ldrrlrivlq avrdcvekdg lssvveddla tehraster
//
