LOCUS       NM_030565               3001 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Mus musculus FAM20C, golgi associated secretory pathway kinase
            (Fam20c), transcript variant 1, mRNA.
ACCESSION   NM_030565
VERSION     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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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  (bases 1 to 3001)
  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 (bases 1 to 3001)
  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 NM_030565.5.
            
            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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1145              AC165444.2         69283-70427
            1146-1324           AC165444.2         72003-72181
            1325-1403           AC165444.2         80831-80909
            1404-1496           AC113533.14        163387-163479       c
            1497-1612           AC113533.14        161557-161672       c
            1613-1793           AC113533.14        150279-150459       c
            1794-1903           AC113533.14        149306-149415       c
            1904-1985           AC113533.14        149111-149192       c
            1986-2045           AC113533.14        148571-148630       c
            2046-3001           AC113533.14        146603-147558       c
FEATURES             Location/Qualifiers
     source          1..3001
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 77.19 cM"
     gene            1..3001
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /note="FAM20C, golgi associated secretory pathway kinase"
                     /db_xref="GeneID:80752"
                     /db_xref="MGI:MGI:2136853"
     exon            1..1145
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     CDS             556..2295
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dentin matrix protein 4; golgi-enriched fraction casein
                     kinase; extracellular serine/threonine protein kinase
                     Fam20C; family with sequence similarity 20, member C"
                     /codon_start=1
                     /product="extracellular serine/threonine protein kinase
                     FAM20C isoform 1"
                     /protein_id="NP_085042.2"
                     /db_xref="CCDS:CCDS51681.1"
                     /db_xref="GeneID:80752"
                     /db_xref="MGI:MGI:2136853"
                     /translation="MKMILVRRFRVLILVVFLLACALHIAVDLLPKLDRRATRSSGEP
                     GCSCAQPAAEAAGPGWAQARSRPGESAGGDAGWPNKHTLRILQDFSSDPASNLTSHSL
                     EKLPSAAEPVDHAPRGQEPRSPPPRDPAHRPLLRDPGPRPRVPPPGPSGDGSLLAKLF
                     EHPLYQGAVPPLTEDDVLFNVNSDIRFNPKAAENPDWPHEGAEGAEFLPTGEAAVNLY
                     PNWLKFHIGINRYELYSRHNPAIDALLRDLGSQKITSVAMKSGGTQLKLIMTFQNYGQ
                     ALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMINMTKE
                     IRDVTRDKKLWRTFFVSPANNICFYGECSYYCSTEHALCGRPDQIEGSLAAFLPDLSL
                     AKRKTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSGHRILDIMDMTVFDFLMG
                     NMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDELSILAPLHQCCRIRRSTYLRLQL
                     LAKEEHKLSLLMAESLQHDKVAPVLYQLHLEALDRRLRIVLQAVRDCVEKDGLSSVVE
                     DDLATEHRASTER"
     exon            1146..1324
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1403
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1496
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1497..1612
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1793
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1794..1903
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..1985
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            1986..2045
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..3001
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2981..2986
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /note="hexamer: AATAAA"
     polyA_site      3001
                     /gene="Fam20c"
                     /gene_synonym="DMP-4; DMP4; GEF-CK; mKIAA4081"
                     /note="major polyA site"
ORIGIN      
        1 ggagctaggc ggtgcgggcg ctgcgctccg ggtcggcctg ctgcacctgc cagatcgtcg
       61 cctctccctg cgcgccccct cgcgctcccc ttctcgcctc tgtctctcca gcccggtctc
      121 ccagcctcag cctgacagaa cagaggagcc gctttgtcgc ctgcccagga cccggcatgg
      181 cccagcggga gcaccgcgct ctggatcgga tctgtcgcgc cttggacggg atgaacagcc
      241 gcgccttctg cttacacgcc cgctgagtgt ggtcgccgtc ccggagaccc tcgtacgccc
      301 ctgcgttccc tgtcaccact gccacccgct ccaccgacga gggccgctgg ccgccccccg
      361 aaatggcctg gagagctggt gctttggtgg cggttgtcct tcacgacgtc caagtctggg
      421 gacagccccc gagctgctag ctgctagtac actgaatgga ccttgacccg cgggtcgttg
      481 cgggcttggt gccaagctga ggggcaccgg tggagcgcgc gtcccgaacc ccccagcccg
      541 ctggcctgcg cggccatgaa gatgatactg gtgcgcaggt ttcgcgtgct catcctggta
      601 gtattcctac tggcttgcgc tttgcacatt gctgttgacc tgctacccaa gctggaccga
      661 cgcgccacgc gatcctccgg ggagcccggt tgctcctgcg ctcagccggc agcagaggca
      721 gctggtccag gctgggccca ggcaaggagc agaccggggg agtccgccgg tggcgacgca
      781 ggctggccca acaaacacac actgcgcatc ctgcaagact tcagctcaga tccagcctct
      841 aacctaacct cccactcctt ggagaagctg ccttctgcag cagagccggt ggatcacgct
      901 ccgcggggtc aggagccccg ttccccgcca ccccgtgacc cagcgcatcg gccgctgctt
      961 cgagacccgg ggccccgacc gcgggtaccg ccccctggcc ccagcgggga cggatcgctc
     1021 ttagccaagt tgtttgagca ccctctctac cagggggctg tgcctcctct gacagaggac
     1081 gacgtcctgt ttaatgtgaa cagcgacatc aggtttaacc ccaaggcagc agagaatcct
     1141 gactggccgc atgaaggtgc tgaaggcgca gaattcttgc ccactggtga ggcagctgtg
     1201 aacctctatc ccaactggct caaattccac attggcatca accggtatga gctgtactcc
     1261 agacacaacc cagccatcga tgccttactg cgggacctcg gctctcagaa gatcaccagc
     1321 gtcgccatga agtcaggggg cacgcagctg aagctcatca tgaccttcca gaattacggg
     1381 caggcgctat tcaaacccat gaagcagacg agagagcagg agacgccgcc tgactttttt
     1441 tatttctctg actatgagag gcacaatgcg gagatcgctg ccttccacct ggacaggatc
     1501 ctggatttcc gcagagtccc tccagtggct ggtaggatga tcaacatgac caaggagatc
     1561 cgggatgtga cgcgggataa gaagctatgg agaactttct ttgtgtctcc agccaacaac
     1621 atctgtttct acggggagtg ttcctactac tgttccaccg agcatgccct gtgtgggagg
     1681 cccgaccaga tcgaaggatc cctggcggcc ttcctgcctg acctgtcgct ggccaagagg
     1741 aagacatggc ggaacccctg gcgtcgttcc taccacaagc gaaagaaggc agagtgggaa
     1801 gtcgaccctg attactgtga ggaggtgaag cagacgccac cctacgacag tggccaccga
     1861 atcctggaca tcatggatat gaccgtcttt gatttcctca tggggaacat ggatcggcat
     1921 cactacgaga cctttgagaa gttcgggaat gagaccttca tcatccactt ggacaacggg
     1981 cgcgggtttg ggaaatactc acacgatgag ctttccattc tcgctcctct tcatcagtgc
     2041 tgcaggatca ggaggtccac ctacctgaga ctgcagctgc tggccaaaga ggaacacaaa
     2101 ctgagcctgc tgatggccga gtccctgcag catgacaagg tggcacccgt gctctaccag
     2161 ctgcatctgg aggccctgga ccggcggttg cgcatagtgc tgcaggctgt gcgagactgt
     2221 gtggagaagg acgggctgag cagtgtggtg gaggacgacc tagccactga gcacagagcc
     2281 tccacggaga ggtagtgacc aggctgccca tgaggaagga ggagcacaga gcctagccac
     2341 ctgtgaattc agtgaattcg gacgggatcg gtcatcccca tagggtgacc tgcggcaggg
     2401 agcatggggt ctccctcatg gttctgatag ggatgtatgg gcctccaatt ccagcagaaa
     2461 ccagacaaag cactctgaac atgcagcaga gtggccagcg ctccgtcctt cccataggga
     2521 gggaccttta actcactatt ttgtacttaa caaaaggctc acactcctgt taatggagaa
     2581 ccatccagca gaccagagat aacctctgag ccacttcaag gaccttctat gatgtgatca
     2641 cactctggcc cccaattaca acccaccttc tgctcctcta tcctggggcc tcctctctca
     2701 aagactgtag agctctagga aggggagaca gcgatggaca tcatggcctg tgtcggagca
     2761 gatgggcacc caagaatggg tttttggata ccaatgacca gctatgcact tgtccgctgc
     2821 tgcagagcag tcagccttat tagttggtgg tgggcaccgc ctgccttggc tgagctttgg
     2881 acgatgggtg tcaagacact acacagagcc cattggcccc aggccagcag gccagccttg
     2941 ggacattttt gtggagtagt ttgcagtgag ataacagtgc aataaagata cagcaagcgt
     3001 g
//
