LOCUS       NM_015681                913 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens B9 domain containing 1 (B9D1), transcript variant 2,
            mRNA.
ACCESSION   NM_015681
VERSION     NM_015681.6
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 913)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 913)
  AUTHORS   Okazaki,M., Kobayashi,T., Chiba,S., Takei,R., Liang,L., Nakayama,K.
            and Katoh,Y.
  TITLE     Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is
            essential as a diffusion barrier for ciliary membrane proteins
  JOURNAL   Mol Biol Cell 31 (20), 2259-2268 (2020)
   PUBMED   32726168
  REMARK    GeneRIF: Formation of the B9-domain protein complex MKS1-B9D2-B9D1
            is essential as a diffusion barrier for ciliary membrane proteins.
REFERENCE   3  (bases 1 to 913)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 913)
  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    GeneRIF: describe four patients with mild Joubert phenotypes who
            carry pathogenic mutations in either MKS1 or B9D1, two genes
            previously implicated only in Meckel syndrome
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 913)
  AUTHORS   Hopp,K., Heyer,C.M., Hommerding,C.J., Henke,S.A., Sundsbak,J.L.,
            Patel,S., Patel,P., Consugar,M.B., Czarnecki,P.G., Gliem,T.J.,
            Torres,V.E., Rossetti,S. and Harris,P.C.
  TITLE     B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted
            exon-enriched next-generation sequencing and deletion analysis
  JOURNAL   Hum Mol Genet 20 (13), 2524-2534 (2011)
   PUBMED   21493627
  REMARK    GeneRIF: B9D1 is a novel Meckel syndrome gene
REFERENCE   6  (bases 1 to 913)
  AUTHORS   Bialas,N.J., Inglis,P.N., Li,C., Robinson,J.F., Parker,J.D.,
            Healey,M.P., Davis,E.E., Inglis,C.D., Toivonen,T., Cottell,D.C.,
            Blacque,O.E., Quarmby,L.M., Katsanis,N. and Leroux,M.R.
  TITLE     Functional interactions between the ciliopathy-associated Meckel
            syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR)
            proteins
  JOURNAL   J Cell Sci 122 (Pt 5), 611-624 (2009)
   PUBMED   19208769
  REMARK    GeneRIF: MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9,
            MKSR-2/B9D2), localize to transition zones/basal bodies of sensory
            cilia; subcellular localization is largely co-dependent, pointing
            to a functional relationship between the proteins
REFERENCE   7  (bases 1 to 913)
  AUTHORS   Williams,C.L., Winkelbauer,M.E., Schafer,J.C., Michaud,E.J. and
            Yoder,B.K.
  TITLE     Functional redundancy of the B9 proteins and nephrocystins in
            Caenorhabditis elegans ciliogenesis
  JOURNAL   Mol Biol Cell 19 (5), 2154-2168 (2008)
   PUBMED   18337471
  REMARK    GeneRIF: Ciliary transition zone localization.  Functions in a
            module with related proteins (MKS1 and B9D1) that cooperates with
            nephrocystins in ciliogenesis.
REFERENCE   8  (bases 1 to 913)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   9  (bases 1 to 913)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 913)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124066.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 23, 2021 this sequence version replaced NM_015681.5.
            
            Summary: This gene encodes a B9 domain-containing protein, one of
            several that are involved in ciliogenesis. Alterations in
            expression of this gene have been found in a family with Meckel
            syndrome. Meckel syndrome has been associated with at least six
            different genes. This gene is located within the Smith-Magenis
            syndrome region on chromosome 17. [provided by RefSeq, Mar 2016].
            
            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 :: SRR11853559.13590.1,
                                           SRR14038192.3898986.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261499.11/ ENSP00000261499.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-217               AC124066.6         34058-34274
            218-286             AC124066.6         36393-36461
            287-398             AC124066.6         38830-38941
            399-495             AC124066.6         48901-48997
            496-558             AC124066.6         49450-49512
            559-626             AC124066.6         52924-52991
            627-913             AC124066.6         53320-53606
FEATURES             Location/Qualifiers
     source          1..913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..913
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /note="B9 domain containing 1"
                     /db_xref="GeneID:27077"
                     /db_xref="HGNC:HGNC:24123"
                     /db_xref="MIM:614144"
     exon            1..217
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..769
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /note="isoform b is encoded by transcript variant 2;
                     endothelial precursor protein B9; B9 domain-containing
                     protein 1; MKS1-related protein 1; B9 protein domain 1"
                     /codon_start=1
                     /product="B9 domain-containing protein 1 isoform b"
                     /protein_id="NP_056496.1"
                     /db_xref="CCDS:CCDS11205.1"
                     /db_xref="GeneID:27077"
                     /db_xref="HGNC:HGNC:24123"
                     /db_xref="MIM:614144"
                     /translation="MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTA
                     GLEEGISQITSKSQDVRQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRG
                     YGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREVTR
                     VRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ"
     exon            218..286
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            287..398
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            399..495
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            496..558
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            559..626
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     exon            627..913
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      892..897
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /note="hexamer: AATAAA"
     polyA_site      913
                     /gene="B9D1"
                     /gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
                     /note="major polyA site"
ORIGIN      
        1 gcatgccaca cgcgcactcg cgtggccttc gcgaaggtgt cgctgccaag aaacgtgtcc
       61 tgcgcgctac gccgtctgtt tctagggcaa cgccggcgtc tcttagcaac cgcgcgcggc
      121 ctaggtgggt ccccccggca cccccagacc tgccatggcg accgcgagtc ctagcgtctt
      181 tctactcatg gtcaacgggc aggtggagag cgcccagttt ccagagtatg atgacctcta
      241 ctgcaagtac tgctttgtgt acggccagga ctgggccccc acagcgggtc tggaggaggg
      301 gatctcacag atcacatcca agagccaaga tgtgcggcaa gcactggtgt ggaacttccc
      361 cattgatgtc acctttaaaa gcaccaaccc ctacggctgg ccacagatcg tgctcagcgt
      421 gtatggacca gatgtgttcg ggaacgatgt ggttcgaggc tatggggccg tgcacgtgcc
      481 cttctcacct ggccggcaca aaaggaccat ccccatgttt gtcccagaat ctacgtctaa
      541 actgcagaag tttacaagct ggttcatggg gcggcggccc gagtacacag accccaaggt
      601 ggtggctcag ggtgaaggcc gggaagtgac ccgtgtccgt tctcagggct ttgtcaccct
      661 cctcttcaac gtggtgacca aggacatgag gaaactgggc tatgacactg ggccttctga
      721 tacacagggt gtgttggggc ccagcccacc ccagagcttc ccccagtgaa ggctccacag
      781 gctgcacagt ctctgataat gaagggctgc cttcccgaag tcagccgctg cccatcggcc
      841 tgaggggcag cctggtggcc agagctgggg gcacacagaa tagttttgta taataaagtc
      901 tcattttcag aga
//
