LOCUS       NM_001168253            4545 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus family with sequence similarity 83, member H (Fam83h),
            transcript variant 1, mRNA.
ACCESSION   NM_001168253
VERSION     NM_001168253.1
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 4545)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4545)
  AUTHORS   He,Z., Wang,X., Zheng,X., Yang,C., He,H. and Song,Y.
  TITLE     Fam83h mutation causes mandible underdevelopment via
            CK1alpha-mediated Wnt/beta-catenin signaling in male C57/BL6J mice
  JOURNAL   Bone 172, 116756 (2023)
   PUBMED   37028581
  REMARK    GeneRIF: Fam83h mutation causes mandible underdevelopment via
            CK1alpha-mediated Wnt/beta-catenin signaling in male C57/BL6J mice.
REFERENCE   3  (bases 1 to 4545)
  AUTHORS   Zheng,X., Huang,W., He,Z., Li,Y., Li,S. and Song,Y.
  TITLE     Effects of Fam83h truncation mutation on enamel developmental
            defects in male C57/BL6J mice
  JOURNAL   Bone 166, 116595 (2023)
   PUBMED   36272714
  REMARK    GeneRIF: Effects of Fam83h truncation mutation on enamel
            developmental defects in male C57/BL6J mice.
REFERENCE   4  (bases 1 to 4545)
  AUTHORS   Wang,S.K., Hu,Y., Smith,C.E., Yang,J., Zeng,C., Kim,J.W., Hu,J.C.
            and Simmer,J.P.
  TITLE     The Enamel Phenotype in Homozygous Fam83h Truncation Mice
  JOURNAL   Mol Genet Genomic Med 7 (6), e724 (2019)
   PUBMED   31060110
  REMARK    GeneRIF: Fam83h-/- mice showed no enamel phenotype.  Fam83h Tr/Tr
            (p.Tyr297*) mutation disturbed amelogenesis through a neomorphic
            mechanism and caused obvious enamel malformations.
REFERENCE   5  (bases 1 to 4545)
  AUTHORS   Shi,G., Zhou,Y., Guo,J., Yang,Z., Lu,Y., Song,Y. and Jia,J.
  TITLE     Immunohistochemical Localization of Fam83h During Fluorosis-induced
            Mouse Molar Development
  JOURNAL   J Histochem Cytochem 66 (9), 663-671 (2018)
   PUBMED   29676651
  REMARK    GeneRIF: These findings shed new light on the association of Fam83h
            and fluorosis and indicated that high fluoride decreased the
            expression of Fam83h in morphological and cytological development.
            This may be one of the reasons for the occurrence of fluorosis.
REFERENCE   6  (bases 1 to 4545)
  AUTHORS   Yang,M., Huang,W., Yang,F., Zhang,T., Wang,C. and Song,Y.
  TITLE     Fam83h mutation inhibits the mineralization in ameloblasts by
            activating Wnt/beta-catenin signaling pathway
  JOURNAL   Biochem Biophys Res Commun 501 (1), 206-211 (2018)
   PUBMED   29709481
  REMARK    GeneRIF: Compared with the control, the Fam83h mutation altered the
            expression and localization of Fam83h, CK1alpha and beta-catenin in
            LS8 ameloblasts, inhibited mineralization and down-regulated the
            expression of mineralization factors.
REFERENCE   7  (bases 1 to 4545)
  AUTHORS   Wang,S.K., Hu,Y., Yang,J., Smith,C.E., Richardson,A.S.,
            Yamakoshi,Y., Lee,Y.L., Seymen,F., Koruyucu,M., Gencay,K., Lee,M.,
            Choi,M., Kim,J.W., Hu,J.C. and Simmer,J.P.
  TITLE     Fam83h null mice support a neomorphic mechanism for human ADHCAI
  JOURNAL   Mol Genet Genomic Med 4 (1), 46-67 (2015)
   PUBMED   26788537
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4545)
  AUTHORS   Kweon,Y.S., Lee,K.E., Ko,J., Hu,J.C., Simmer,J.P. and Kim,J.W.
  TITLE     Effects of Fam83h overexpression on enamel and dentine formation
  JOURNAL   Arch Oral Biol 58 (9), 1148-1154 (2013)
   PUBMED   23545224
  REMARK    GeneRIF: Findings demonstrate that over-expression of FAM83H in
            mice does not produce a phenotype in dentine or enamel.
REFERENCE   9  (bases 1 to 4545)
  AUTHORS   Lee,M.J., Lee,S.K., Lee,K.E., Kang,H.Y., Jung,H.S. and Kim,J.W.
  TITLE     Expression patterns of the Fam83h gene during murine tooth
            development
  JOURNAL   Arch Oral Biol 54 (9), 846-850 (2009)
   PUBMED   19545854
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK030392.1, AK035531.1, AC116487.14 and AA409317.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK030392.1, SRR9219380.6790.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-659               AK030392.1         2-660
            660-2756            AK035531.1         628-2724
            2757-3958           AK030392.1         2759-3960
            3959-4524           AK035531.1         3927-4492
            4525-4530           AC116487.14        95877-95882
            4531-4545           AA409317.1         419-433
FEATURES             Location/Qualifiers
     source          1..4545
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 35.22 cM"
     gene            1..4545
                     /gene="Fam83h"
                     /note="family with sequence similarity 83, member H"
                     /db_xref="GeneID:105732"
                     /db_xref="MGI:MGI:2145900"
     exon            1..125
                     /gene="Fam83h"
                     /inference="alignment:Splign:2.1.0"
     exon            126..587
                     /gene="Fam83h"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..3770
                     /gene="Fam83h"
                     /codon_start=1
                     /product="protein FAM83H"
                     /protein_id="NP_001161725.1"
                     /db_xref="CCDS:CCDS27559.1"
                     /db_xref="GeneID:105732"
                     /db_xref="MGI:MGI:2145900"
                     /translation="MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALTEGGPEAYN
                     RFLASEGAPDFLCPEELEHVSRHLQPPQYVAREPPEGTPSDVDMDGSSGTYWPVNSDQ
                     AVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTD
                     VDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLHHVDFLRVRTVAGPTYYC
                     RTGKSFKGHLKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRI
                     LFAQSEPLVPSAGALARMDAYALAPYSGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPR
                     EEGLGFPSFLDPDRHFLSAFRREELQRMPGGALEPHTGLRPLARPTEAGPFGELAGPR
                     GFFQSRHLEMDAFKRHSYATPDGAGAVENFAAARQVSRQTFLSHGDDFRFQTSHFQRD
                     QLYQQHYQWDPQFAPARPQGLFEKLRAGRPGFADPDDFALGAGHRFPELGADVHQRLE
                     YVPSSASREVRHGSDPAFGPSPRGLEPSGASRPNLGQRFPCQATLRQGLDTASEAEPE
                     RRGGPEGRAGLRHWRLASYLSGCHGDGGEEGLPMEAEACEDEVLAPGGRDLLPSAFRT
                     PAAFPAKGPKPGSGSGGGDSSEREGPEETSLAKQDSFRSRLNPLIQRSSRLRSSLIFA
                     SQAEGAVGTAAATTEKVQLMHKEQTVSETLGPSGEAVRSSASAKVAELLEKYKGPARD
                     PGGAGGAVTSSSHSKAVVSQAWREEVVAPGGAGTERRSLESCLLDLRDSFAQQLHQEA
                     ERHPGAASLTAAQLLDTLGGTDRLPSRFLSAQGRSLSPQGRDSPPPEGLGTHQLPYSE
                     PKGNPTPAYPERKGSPTPAYPERKGSPTPAYPERKGSPTPAYPERKGSPTQAYPERKG
                     SPTSGFPNRRGSPTTGLMEQKGSPTSTYPDRRGSPVPPVPERRGSPVPPVPERRGSLT
                     FAGESSKTGPTEEVSSGPMEVLRKGSLRLRQLLSPKNERRGEDEGSFPTPQENGQPES
                     PRRPSLSRGDSTEAAAEERGSRVRLASATANALYSSNLRDDTKAILEQISAHGQKHRG
                     VPAPGPAHSSPDVGRPTTAGDLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPGSAEER
                     DRLLRRMESMRKEKRVYSRFEVFCKKDEAGSSGAGDNLADEDTRDSKMGKFVPKILGT
                     FKSKK"
     exon            588..752
                     /gene="Fam83h"
                     /inference="alignment:Splign:2.1.0"
     exon            753..877
                     /gene="Fam83h"
                     /inference="alignment:Splign:2.1.0"
     exon            878..4535
                     /gene="Fam83h"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4506..4511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Fam83h"
                     /note="hexamer: AATAAA"
     polyA_site      4526
                     /gene="Fam83h"
                     /note="major polyA site"
ORIGIN      
        1 gaatcaggcc gaacgggcgg gcgggccgcg gcggggagtg gctgtcggac ggacgggacc
       61 gcgaggccgc tgggcggcgg tgggctcctg ctgcccctgt gccgaaaccc cgctcacctg
      121 gccaggcccc tggccccaac atggcccgtc gctcccagag cagctcgcag ggggacaacc
      181 cactggcacc tgggtacctg ccacctcact acaaagaata ttaccgccta gcggtggatg
      241 cattgactga gggtgggcca gaagcctaca accgcttctt ggcatctgag ggggcacctg
      301 acttcctgtg ccctgaggaa ctggaacacg tgagccgcca cctgcagccc ccacagtatg
      361 tggcccggga accccctgaa ggcaccccat ctgatgtgga catggacggg tcctcaggca
      421 cctactggcc agtgaactca gaccaggctg tgcctgagct ggacctgggc tggcccctca
      481 catttggctt ccaaggcaca gaggtcacca cactggtaca gccgccgcca cctgacagcc
      541 ccagcatcaa agatgaagct cggaggatga tccgctctgc ccagcaggtg gtagctgtgg
      601 tgatggacat gtttaccgac gtggatctgc tcagtgaggt gctagaggcc gctgcaaggc
      661 gagtcccggt ctacattctg ctggatgaaa tgaacgccca gcacttccta gacatggccg
      721 acaagtgtcg cgtcaacctg catcatgtgg acttcctgcg tgtgcgcaca gtggcaggtc
      781 ctacttacta ctgccgcact gggaagtctt tcaagggcca tctaaaggag aagttcttgc
      841 ttgtggactg tgccgtagtg atgagcggca gttatagctt catgtggtcc ttcgagaaaa
      901 tccaccgcag cctggctcat gtgttccagg gagagttggt ctccagcttc gacgaagagt
      961 tccgcatcct cttcgcacag tcggagccac tggtgccctc agccggggcg ctagcccgca
     1021 tggatgccta tgcgctagct ccatactctg gggctgggcc cctggtgggc gtccccgggg
     1081 ttggagcacc aacacctttt tctttcccta aacgggcgca cctcctattc ccaccgccca
     1141 gggaagaagg cctgggcttc ccctctttcc tagaccctga ccgccacttc ctgtcggctt
     1201 tccgccgaga ggagctgcag agaatgcctg ggggtgcttt ggagcctcac acagggctcc
     1261 ggccactggc gcgcccaact gaggctgggc cgttcggaga gctcgcgggc ccccggggct
     1321 tcttccagtc aaggcacctg gaaatggatg ccttcaagcg gcatagctac gcaacacccg
     1381 atggagctgg agcagtggag aactttgcag cggcacggca ggtgtcacga caaacattcc
     1441 tcagtcacgg tgatgacttc cgtttccaga ccagccactt ccaacgggac cagctctatc
     1501 agcagcatta ccagtgggac ccacagtttg ctcctgcgcg cccacagggc ctcttcgaga
     1561 agcttcgtgc aggccgacct ggctttgcgg accctgatga ctttgcctta ggtgctggtc
     1621 accgcttccc agaactcggt gctgatgtgc accaacggct ggaatacgtg ccatccagcg
     1681 catctcggga ggtacgccac ggctcggatc cggcctttgg acccagcccc cgtggtctag
     1741 agcccagtgg agcctcgcgt cccaatctgg gccagcgttt tccatgccaa gcaaccttga
     1801 gacaaggcct ggacaccgct tcggaggcag aacctgagcg caggggcgga cccgagggcc
     1861 gggccgggct gcgtcactgg cgccttgcct cctacctgag cggctgccac ggtgacggtg
     1921 gggaggaggg tctaccaatg gaggctgagg cttgtgaaga cgaggtgctg gctcccggag
     1981 gccgggacct gctcccctcc gccttccgca ctcctgcagc cttcccagct aagggaccaa
     2041 agccgggctc aggaagcggt ggtggtgaca gctccgagcg agagggccca gaagagacaa
     2101 gcctggctaa gcaggactcc ttccgctctc gcttgaaccc gctcatccag cgcagctcca
     2161 ggttgcgctc atcactcatc tttgcgtccc aggctgaggg tgctgttggg accgcagcag
     2221 ccaccactga aaaagtacag ctgatgcaca aagaacaaac agtcagtgaa actctgggtc
     2281 ccagcggaga ggctgttcgt tccagcgcct cggccaaagt ggcggagctc ctggagaaat
     2341 acaagggccc tgcccgggac cctggcggtg caggaggtgc cgtcacttcc tccagccaca
     2401 gcaaggctgt agtgtcccag gcctggcggg aggaggtggt agcaccagga ggagcgggaa
     2461 ctgaacgccg cagccttgag agttgcttgc ttgacctgcg cgattccttt gcccagcagt
     2521 tgcaccagga ggcagagcga cacccaggag ccgcttcgct cactgctgcg caactgctcg
     2581 acaccctggg cggcactgac cgcctgccat cacgcttcct ctccgcccag ggccgctcct
     2641 tgtctccaca aggtcgagat agccctccgc cagaagggct tgggacacac cagctgcctt
     2701 attctgagcc aaagggaaac cccaccccag cttaccctga gcgcaagggg agccctaccc
     2761 cagcttaccc tgagcgcaag gggagcccta ccccagctta ccctgagcgc aaggggagcc
     2821 ctaccccagc ttaccctgag cgcaagggga gtcctaccca agcctaccct gagcgcaagg
     2881 ggagccccac gtctggattt cccaatcgga ggggcagccc aaccacagga ttgatggagc
     2941 agaagggaag tcccacttca acctacccag accgcagggg cagtccggtg cccccagtgc
     3001 ctgagcgcag gggtagtcca gtaccccctg tgcccgagcg cagaggcagt ctcactttcg
     3061 ctggggagtc ttcgaagact gggcctacag aggaggtgtc tagtggcccc atggaagtcc
     3121 tgcgaaaggg ttctctccgc ctcaggcagc tgctgagccc caagaatgag aggcgtgggg
     3181 aggatgaggg cagcttccca actccgcagg aaaatgggca gcccgagagc ccccggcggc
     3241 cctcgctgag tcggggtgac agcacagagg ctgctgcaga ggagagaggc tcgagggtcc
     3301 gcctagcttc agctacagcc aatgctctgt acagcagcaa tctgcgagat gacactaagg
     3361 ccattctgga gcaaattagt gcccacggcc agaagcaccg cggggtccct gctccaggtc
     3421 cagcccacag cagtcctgac gtaggtcgtc caacaactgc aggagacttg gccccagaca
     3481 tgtccgacaa ggacaaatgt tcagctatct tccgctcaga cagcctaggg acacaaggcc
     3541 ggctcagccg caccctgcct ggcagtgcag aggagcgaga ccggctcctt cgccgcatgg
     3601 agagcatgcg caaagagaag cgtgtctaca gtcgcttcga agtcttctgc aaaaaggacg
     3661 aagctggcag tagtggggca ggagacaact tggcagatga ggacaccagg gacagtaaaa
     3721 tgggcaaatt tgtccccaag atcctgggca cattcaaaag caaaaaatga tctcctggtc
     3781 tcggaggcca ggactctgca tcactgccat actgaaccta caatacccat ctggagtggt
     3841 ggctgtcagg ttagtgtcaa agcagtttgg gacctagctg acaaccacct gaactgagct
     3901 ccacttgaat tcgcctcgca gccgcactgc ctctcactct tggcttttcc atgaggggct
     3961 tagcccctcc acctggtgcc tttcctcatc acctaccccc accccagcct ccaccatctc
     4021 ctgggctcag gtctactttg ggtcattatt tcacctcagg gatccatctc tctgccttat
     4081 gctccagttt ttcaagaact ctatcacttt gtgcctcagt tccctcttaa ggccttttat
     4141 ctcagggctt tttctcaggg tttccatctc atggctcctg gtcctctccc tctggtgaca
     4201 gcctcctccc atcctctcat ctctatctct ctcgggaaca caccttgcct gctcccactc
     4261 tgactcctca ctgcctcata gcactttctt ggcatctgcc ctcttactgt gtggatggca
     4321 gagttggcct cgggcagttt aagggaagag agggatgctg gctaggacag actgttggaa
     4381 agtaattgct aaacacctag ggctccccac cctccccgcc tcaggccatg cctgccctct
     4441 ccagcaagtt tctgggtagc acttgaagag gagccaagat tggggagcac tgggctttgc
     4501 agtacaataa aggaatcggg acagacgttc tgtgaaaaaa aaaaa
//
