LOCUS       NM_013717                834 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus B9 protein domain 1 (B9d1), transcript variant 1,
            mRNA.
ACCESSION   NM_013717
VERSION     NM_013717.3
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 834)
  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 834)
  AUTHORS   Burnicka-Turek,O., Steimle,J.D., Huang,W., Felker,L., Kamp,A.,
            Kweon,J., Peterson,M., Reeves,R.H., Maslen,C.L., Gruber,P.J.,
            Yang,X.H., Shendure,J. and Moskowitz,I.P.
  TITLE     Cilia gene mutations cause atrioventricular septal defects by
            multiple mechanisms
  JOURNAL   Hum Mol Genet 25 (14), 3011-3028 (2016)
   PUBMED   27340223
REFERENCE   3  (bases 1 to 834)
  AUTHORS   Roberson,E.C., Dowdle,W.E., Ozanturk,A., Garcia-Gonzalo,F.R.,
            Li,C., Halbritter,J., Elkhartoufi,N., Porath,J.D., Cope,H.,
            Ashley-Koch,A., Gregory,S., Thomas,S., Sayer,J.A., Saunier,S.,
            Otto,E.A., Katsanis,N., Davis,E.E., Attie-Bitach,T.,
            Hildebrandt,F., Leroux,M.R. and Reiter,J.F.
  TITLE     TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes
            the ciliary transition zone
  JOURNAL   J Cell Biol 209 (1), 129-142 (2015)
   PUBMED   25869670
REFERENCE   4  (bases 1 to 834)
  AUTHORS   Barker,A.R., Renzaglia,K.S., Fry,K. and Dawe,H.R.
  TITLE     Bioinformatic analysis of ciliary transition zone proteins reveals
            insights into the evolution of ciliopathy networks
  JOURNAL   BMC Genomics 15 (1), 531 (2014)
   PUBMED   24969356
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 834)
  AUTHORS   Romani,M., Micalizzi,A., Kraoua,I., Dotti,M.T., Cavallin,M.,
            Sztriha,L., Ruta,R., Mancini,F., Mazza,T., Castellana,S.,
            Hanene,B., Carluccio,M.A., Darra,F., Mate,A., Zimmermann,A.,
            Gouider-Khouja,N. and Valente,E.M.
  TITLE     Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding
            the genetic overlap with the lethal ciliopathy Meckel syndrome
  JOURNAL   Orphanet J Rare Dis 9, 72 (2014)
   PUBMED   24886560
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 834)
  AUTHORS   Chih,B., Liu,P., Chinn,Y., Chalouni,C., Komuves,L.G., Hass,P.E.,
            Sandoval,W. and Peterson,A.S.
  TITLE     A ciliopathy complex at the transition zone protects the cilia as a
            privileged membrane domain
  JOURNAL   Nat Cell Biol 14 (1), 61-72 (2011)
   PUBMED   22179047
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 834)
  AUTHORS   Dowdle,W.E., Robinson,J.F., Kneist,A., Sirerol-Piquer,M.S.,
            Frints,S.G., Corbit,K.C., Zaghloul,N.A., van Lijnschoten,G.,
            Mulders,L., Verver,D.E., Zerres,K., Reed,R.R., Attie-Bitach,T.,
            Johnson,C.A., Garcia-Verdugo,J.M., Katsanis,N., Bergmann,C. and
            Reiter,J.F.
  TITLE     Disruption of a ciliary B9 protein complex causes Meckel syndrome
  JOURNAL   Am J Hum Genet 89 (1), 94-110 (2011)
   PUBMED   21763481
  REMARK    GeneRIF: B9d1 is required for normal Hh signaling, ciliogenesis,
            and ciliary protein localization. B9d1 and B9d2 are essential
            components of a B9 protein complex, disruption of which causes
            Meckel syndrome.
            Erratum:[Am J Hum Genet. 2011 Oct 7;89(4):589. Zaghloul, Norran A
            [corrected to Zaghloul, Norann A]]
REFERENCE   8  (bases 1 to 834)
  AUTHORS   Garcia-Gonzalo,F.R., Corbit,K.C., Sirerol-Piquer,M.S.,
            Ramaswami,G., Otto,E.A., Noriega,T.R., Seol,A.D., Robinson,J.F.,
            Bennett,C.L., Josifova,D.J., Garcia-Verdugo,J.M., Katsanis,N.,
            Hildebrandt,F. and Reiter,J.F.
  TITLE     A transition zone complex regulates mammalian ciliogenesis and
            ciliary membrane composition
  JOURNAL   Nat Genet 43 (8), 776-784 (2011)
   PUBMED   21725307
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 834)
  AUTHORS   Sang,L., Miller,J.J., Corbit,K.C., Giles,R.H., Brauer,M.J.,
            Otto,E.A., Baye,L.M., Wen,X., Scales,S.J., Kwong,M.,
            Huntzicker,E.G., Sfakianos,M.K., Sandoval,W., Bazan,J.F.,
            Kulkarni,P., Garcia-Gonzalo,F.R., Seol,A.D., O'Toole,J.F., Held,S.,
            Reutter,H.M., Lane,W.S., Rafiq,M.A., Noor,A., Ansar,M., Devi,A.R.,
            Sheffield,V.C., Slusarski,D.C., Vincent,J.B., Doherty,D.A.,
            Hildebrandt,F., Reiter,J.F. and Jackson,P.K.
  TITLE     Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy
            disease genes and pathways
  JOURNAL   Cell 145 (4), 513-528 (2011)
   PUBMED   21565611
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK010355.1 and AW121128.1.
            
            On Sep 3, 2016 this sequence version replaced NM_013717.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK010355.1, AB030483.1 [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
            1-809               AK010355.1         2-810
            810-834             AW121128.1         1-25                c
FEATURES             Location/Qualifiers
     source          1..834
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 37.96 cM"
     gene            1..834
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /note="B9 protein domain 1"
                     /db_xref="GeneID:27078"
                     /db_xref="MGI:MGI:1351471"
     exon            1..128
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..680
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /note="isoform 1 is encoded by transcript variant 1; B9
                     domain-containing protein 1; endothelial precursor cells
                     protein B9"
                     /codon_start=1
                     /product="B9 domain-containing protein 1 isoform 1"
                     /protein_id="NP_038745.1"
                     /db_xref="CCDS:CCDS24815.1"
                     /db_xref="GeneID:27078"
                     /db_xref="MGI:MGI:1351471"
                     /translation="MAAASPSVFLLMITGQVESAQFPEYDDLYCKYCFVYGQDWAPTA
                     GLEEGISQIASKSQDVRQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRG
                     YGAVHVPLSPGRHKRTIPMFVPESTSTLQKFTSWFMGRRPEYTDPKVVAQGEGREVTR
                     VRSQGFVTLLFNVVTKDMKKLGYDTGPVDTQGVLGPSLPQGNPQ"
     exon            129..197
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     exon            198..309
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     exon            310..406
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     exon            407..469
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     exon            470..537
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     exon            538..817
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      790..795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /note="hexamer: AATAAA"
     polyA_site      815
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /note="major polyA site"
ORIGIN      
        1 aagacaaccg agagcctcct ggcaacagcg cgcggcctgc gccggtctcc cggcccatca
       61 gtgcaatggc tgcagcaagt cccagcgtct tcctgctcat gatcaccggg caggtagaga
      121 gcgcacagtt tccagagtat gatgacctct actgcaagta ctgctttgtg tatggccagg
      181 actgggcccc aacagcgggt ctggaggagg ggatctcaca gatagcatct aagagccaag
      241 atgtacggca agcactggtg tggaacttcc ccatcgatgt gacctttaaa agtaccaacc
      301 cctatggctg gccacagatt gtactcagtg tctatgggcc ggatgtgttt gggaatgatg
      361 tcgtccgagg ctatggagca gtgcatgtgc ccctctctcc aggacggcac aaaaggacca
      421 tccccatgtt tgtgccagag tctacatcta cactacagaa gttcacaagc tggttcatgg
      481 gacggcgacc cgagtacaca gaccccaagg tggtggccca gggtgaaggc cgggaagtga
      541 ctcgtgttcg ctctcaggga tttgttaccc tcctcttcaa tgtggtgacc aaggacatga
      601 agaagctggg ctatgatact gggcctgtgg acacacaagg agtcctgggt cctagcctgc
      661 cacagggcaa cccacaataa aaatcagccc ttctgtccgc cactgtggac cagatgccct
      721 acagcccaca cacagccaag gacatgccaa ccaggctggg aaacagggga gctaaaggta
      781 gttttatata ataaagtgtc acatgttttt cagaggtaaa aaaaaaaaaa aaaa
//
