LOCUS       NM_178497                788 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens odontogenesis associated phosphoprotein (ODAPH),
            transcript variant 2, mRNA.
ACCESSION   NM_178497
VERSION     NM_178497.5
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 788)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 788)
  AUTHORS   Prasad,M.K., Laouina,S., El Alloussi,M., Dollfus,H. and
            Bloch-Zupan,A.
  TITLE     Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated
            Genes
  JOURNAL   J Dent Res 95 (13), 1457-1463 (2016)
   PUBMED   27558265
REFERENCE   3  (bases 1 to 788)
  AUTHORS   Springer,M.S., Starrett,J., Morin,P.A., Lanzetti,A., Hayashi,C. and
            Gatesy,J.
  TITLE     Inactivation of C4orf26 in toothless placental mammals
  JOURNAL   Mol Phylogenet Evol 95, 34-45 (2016)
   PUBMED   26596502
REFERENCE   4  (bases 1 to 788)
  AUTHORS   Parry,D.A., Brookes,S.J., Logan,C.V., Poulter,J.A., El-Sayed,W.,
            Al-Bahlani,S., Al Harasi,S., Sayed,J., Raif el,M., Shore,R.C.,
            Dashash,M., Barron,M., Morgan,J.E., Carr,I.M., Taylor,G.R.,
            Johnson,C.A., Aldred,M.J., Dixon,M.J., Wright,J.T., Kirkham,J.,
            Inglehearn,C.F. and Mighell,A.J.
  TITLE     Mutations in C4orf26, encoding a peptide with in vitro
            hydroxyapatite crystal nucleation and growth activity, cause
            amelogenesis imperfecta
  JOURNAL   Am J Hum Genet 91 (3), 565-571 (2012)
   PUBMED   22901946
  REMARK    GeneRIF: Autozygosity mapping and clonal sequencing of an Omani
            family identified mutations in the uncharacterized gene, C4orf26,
            as a cause of recessive hypomineralized amelogenesis imperfecta
REFERENCE   5  (bases 1 to 788)
  AUTHORS   Chung,S.J., Armasu,S.M., Biernacka,J.M., Anderson,K.J.,
            Lesnick,T.G., Rider,D.N., Cunningham,J.M., Eric Ahlskog,J.,
            Frigerio,R. and Maraganore,D.M.
  TITLE     Genomic determinants of motor and cognitive outcomes in Parkinson's
            disease
  JOURNAL   Parkinsonism Relat Disord 18 (7), 881-886 (2012)
   PUBMED   22658654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096759.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 2, 2019 this sequence version replaced NM_178497.4.
            
            Summary: Dental enamel forms the outer cap of teeth and is the
            hardest substance found in vertebrates. This gene is thought to
            encode an extracellular matrix acidic phosphoprotein that has a
            function in enamel mineralization during amelogenesis. Mutations in
            this gene are associated with recessive hypomineralized
            amelogenesis imperfecta. [provided by RefSeq, Oct 2012].
            
            Transcript Variant: This variant (2) lacks an alternate exon that
            results in a frameshift in the central and subsequent coding
            region, compared to variant 1. The encoded isoform (2) has a
            distinct C-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DA912548.1, BC061701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311623.9/ ENSP00000311307.5
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AC096759.3         163559-163642
            85-788              AC096759.3         171607-172310
FEATURES             Location/Qualifiers
     source          1..788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..788
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /note="odontogenesis associated phosphoprotein"
                     /db_xref="GeneID:152816"
                     /db_xref="HGNC:HGNC:26300"
                     /db_xref="MIM:614829"
     exon            1..84
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..410
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; amelogenesis imperfecta type IIA4;
                     uncharacterized protein C4orf26"
                     /codon_start=1
                     /product="odontogenesis associated phosphoprotein isoform
                     2 precursor"
                     /protein_id="NP_848592.2"
                     /db_xref="CCDS:CCDS3569.1"
                     /db_xref="GeneID:152816"
                     /db_xref="HGNC:HGNC:26300"
                     /db_xref="MIM:614829"
                     /translation="MARRHCFSYWLLVCWLVVTVAEGQEEVFTPPGDSQNNADATDCQ
                     IFTLTPPPAPRSPVTRAQPITKTPRCPFHFFPRRPRIHFRFPNRPFVPSRCNHRFPFQ
                     PFYWPHRYLTYRYFPRRRLQRGSSSEES"
     exon            85..788
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      670..675
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /note="hexamer: AATAAA"
     polyA_site      688
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /note="major polyA site"
     regulatory      762..767
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
                     /note="hexamer: AATAAA"
     polyA_site      788
                     /gene="ODAPH"
                     /gene_synonym="AI2A4; C4orf26"
ORIGIN      
        1 actgctcagt agaagccatg gctcgcagac actgcttctc ctactggtta ctggtatgct
       61 ggttggtggt aactgtggca gaaggacaag aagaggtatt tacgcctcct ggagattcac
      121 aaaataatgc ggacgctacc gactgccaga tctttacact cacccctcca cctgccccga
      181 ggagtccggt cacaagggcc cagcccatca caaagacacc caggtgtccc ttccattttt
      241 ttccacgaag gcccagaatc cattttaggt ttccaaacag acctttcgtc ccttcaaggt
      301 gtaaccaccg ttttccattc cagccatttt attggccaca ccgttacctt acttataggt
      361 atttccccag aagaagactc cagagaggaa gctcatctga ggaaagctga gagggaagag
      421 aaacccaaac atactgaagc aaaaaaaagc ctatccttca gaaaaaagca acaaaaagat
      481 ttctgtttta tctttcgaaa ctaaaactat tggatttgaa gattaagtat cctaaacatc
      541 actgactaga aactgttctc tttgtcagca gtgaagatat tggatcatag gttattgatg
      601 gttgcaaaat tggacaataa ccacgttatt tttatcctca acctcttatg gtcacaggat
      661 atttatgcaa ataaaatctt taaatgggtg gctctagtaa ttcctatcca tactaagatg
      721 ctgagagaat ccatctcctc ctctaaatta aacaggattt aaataaattg agatcattat
      781 aaaccaca
//
