LOCUS       NM_013717                834 bp    mRNA    linear   ROD 05-AUG-2023
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   Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J,
            Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J
            and Moskowitz IP.
  TITLE     Cilia gene mutations cause atrioventricular septal defects by
            multiple mechanisms
  JOURNAL   Hum Mol Genet 25 (14), 3011-3028 (2016)
   PUBMED   27340223
REFERENCE   2  (bases 1 to 834)
  AUTHORS   Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C,
            Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A,
            Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N,
            Davis EE, Attie-Bitach T, Hildebrandt F, Leroux MR and Reiter JF.
  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   3  (bases 1 to 834)
  AUTHORS   Barker AR, Renzaglia KS, Fry K and Dawe HR.
  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   4  (bases 1 to 834)
  AUTHORS   Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L,
            Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA,
            Darra F, Mate A, Zimmermann A, Gouider-Khouja N and Valente EM.
  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   5  (bases 1 to 834)
  AUTHORS   Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W
            and Peterson AS.
  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   6  (bases 1 to 834)
  AUTHORS   Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG,
            Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE,
            Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM,
            Katsanis N, Bergmann C and Reiter JF.
  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   7  (bases 1 to 834)
  AUTHORS   Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto
            EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ,
            Garcia-Verdugo JM, Katsanis N, Hildebrandt F and Reiter JF.
  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   8  (bases 1 to 834)
  AUTHORS   Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye
            LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK,
            Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD,
            O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M,
            Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA,
            Hildebrandt F, Reiter JF and Jackson PK.
  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 precursor 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
                     precursor"
                     /protein_id="NP_038745.1"
                     /db_xref="CCDS:CCDS24815.1"
                     /db_xref="GeneID:27078"
                     /db_xref="MGI:MGI:1351471"
                     /translation="

MAAASPSVFLLMITGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQIASKSQDVRQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPLSPGRHKRTIPMFVPESTSTLQKFTSWFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMKKLGYDTGPVDTQGVLGPSLPQGNPQ"

     sig_peptide     66..122
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     misc_feature    96..587
                     /gene="B9d1"
                     /gene_synonym="B9; Eppb9"
                     /note="Ciliary basal body-associated, B9 protein; Region:
                     B9-C2; pfam07162"
                     /db_xref="CDD:429326"
     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"
ORIGIN      

aagacaaccgagagcctcctggcaacagcgcgcggcctgcgccggtctcccggcccatcagtgcaatggctgcagcaagtcccagcgtcttcctgctcatgatcaccgggcaggtagagagcgcacagtttccagagtatgatgacctctactgcaagtactgctttgtgtatggccaggactgggccccaacagcgggtctggaggaggggatctcacagatagcatctaagagccaagatgtacggcaagcactggtgtggaacttccccatcgatgtgacctttaaaagtaccaacccctatggctggccacagattgtactcagtgtctatgggccggatgtgtttgggaatgatgtcgtccgaggctatggagcagtgcatgtgcccctctctccaggacggcacaaaaggaccatccccatgtttgtgccagagtctacatctacactacagaagttcacaagctggttcatgggacggcgacccgagtacacagaccccaaggtggtggcccagggtgaaggccgggaagtgactcgtgttcgctctcagggatttgttaccctcctcttcaatgtggtgaccaaggacatgaagaagctgggctatgatactgggcctgtggacacacaaggagtcctgggtcctagcctgccacagggcaacccacaataaaaatcagcccttctgtccgccactgtggaccagatgccctacagcccacacacagccaaggacatgccaaccaggctgggaaacaggggagctaaaggtagttttatataataaagtgtcacatgtttttcagaggtaaaaaaaaaaaaaaaaa

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