LOCUS       NM_024296                880 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 28B (CCDC28B),
            transcript variant 2, mRNA.
ACCESSION   NM_024296
VERSION     NM_024296.5
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 880)
  AUTHORS   Capitani,N., Onnis,A., Finetti,F., Cassioli,C., Plebani,A.,
            Brunetti,J., Troilo,A., D'Elios,S., Baronio,M., Gazzurelli,L.,
            Della Bella,C., Billadeau,D.D., D'Elios,M.M., Lougaris,V. and
            Baldari,C.T.
  TITLE     A CVID-associated variant in the ciliogenesis protein CCDC28B
            disrupts immune synapse assembly
  JOURNAL   Cell Death Differ 29 (1), 65-81 (2022)
   PUBMED   34294890
  REMARK    GeneRIF: A CVID-associated variant in the ciliogenesis protein
            CCDC28B disrupts immune synapse assembly.
REFERENCE   2  (bases 1 to 880)
  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   3  (bases 1 to 880)
  AUTHORS   Novas,R., Cardenas-Rodriguez,M., Lepanto,P., Fabregat,M., Rodao,M.,
            Fariello,M.I., Ramos,M., Davison,C., Casanova,G., Alfaya,L.,
            Lecumberry,F., Gonzalez-Sapienza,G., Irigoin,F. and Badano,J.L.
  TITLE     Kinesin 1 regulates cilia length through an interaction with the
            Bardet-Biedl syndrome related protein CCDC28B
  JOURNAL   Sci Rep 8 (1), 3019 (2018)
   PUBMED   29445114
  REMARK    GeneRIF: these studies demonstrate that kinesin 1 regulates
            ciliogenesis through CCDC28B
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 880)
  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   5  (bases 1 to 880)
  AUTHORS   Cardenas-Rodriguez,M., Irigoin,F., Osborn,D.P., Gascue,C.,
            Katsanis,N., Beales,P.L. and Badano,J.L.
  TITLE     The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2
            function and interacts with SIN1 to control cilia length
            independently of the mTOR complex
  JOURNAL   Hum Mol Genet 22 (20), 4031-4042 (2013)
   PUBMED   23727834
  REMARK    GeneRIF: Findings implicate CCDC28B in the regulation of mTORC2,
            and uncover a novel function of SIN1 regulating cilia length that
            is likely independent of mTOR signaling.
REFERENCE   6  (bases 1 to 880)
  AUTHORS   Cardenas-Rodriguez,M., Osborn,D.P., Irigoin,F., Grana,M.,
            Romero,H., Beales,P.L. and Badano,J.L.
  TITLE     Characterization of CCDC28B reveals its role in ciliogenesis and
            provides insight to understand its modifier effect on Bardet-Biedl
            syndrome
  JOURNAL   Hum Genet 132 (1), 91-105 (2013)
   PUBMED   23015189
  REMARK    GeneRIF: reports CCDC28B as a novel protein involved in the process
            of ciliogenesis whilst providing functional insight into the
            cellular basis of its modifier effect in Bardet-Biedl syndrome.
REFERENCE   7  (bases 1 to 880)
  AUTHORS   Badano,J.L., Leitch,C.C., Ansley,S.J., May-Simera,H., Lawson,S.,
            Lewis,R.A., Beales,P.L., Dietz,H.C., Fisher,S. and Katsanis,N.
  TITLE     Dissection of epistasis in oligogenic Bardet-Biedl syndrome
  JOURNAL   Nature 439 (7074), 326-330 (2006)
   PUBMED   16327777
  REMARK    GeneRIF: identification of a novel locus, MGC1203, that contributes
            epistatic alleles to Bardet-Biedl syndrome, a pleiotropic,
            oligogenic disorder; MGC1203 encodes a pericentriolar protein that
            interacts and colocalizes with the BBS proteins
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291904.1 and BC022848.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_024296.4.
            
            Summary: The product of this gene localizes to centrosomes and
            basal bodies. The protein colocalizes with several proteins
            associated with Bardet-Biedl syndrome (BBS) and participates in the
            regulation of cilia development. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) lacks an alternate segment in
            the 3' coding region, which results in a frameshift, 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 :: BC022848.2, BU538767.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373602.10/ ENSP00000362704.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AK291904.1         220-276
            58-880              BC022848.2         1-823
FEATURES             Location/Qualifiers
     source          1..880
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     gene            1..880
                     /gene="CCDC28B"
                     /note="coiled-coil domain containing 28B"
                     /db_xref="GeneID:79140"
                     /db_xref="HGNC:HGNC:28163"
                     /db_xref="MIM:610162"
     exon            1..115
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     exon            116..302
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..741
                     /gene="CCDC28B"
                     /note="isoform 2 is encoded by transcript variant 2;
                     coiled-coil domain-containing protein 28B"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 28B
                     isoform 2"
                     /protein_id="NP_077272.2"
                     /db_xref="CCDS:CCDS354.2"
                     /db_xref="GeneID:79140"
                     /db_xref="HGNC:HGNC:28163"
                     /db_xref="MIM:610162"
                     /translation="MDDKKKKRSPKPCLAQPAQAPGTLRRVPVPTSHSGSLALGLPHL
                     PSPKQRAKFKRVGKEKCRPVLAGGGSGSAGTPLQHSFLTEVTDVYEMEGGLLNLLNDF
                     HSGRLQAFGKECSFEQLEHVREMQEKLARLHFSLDVCGEEEDDEEEEDGVTEGLPEEQ
                     KKTMADRNLDQLLSNLEDLSNSIQKLHLAENAEPEEQSAA"
     exon            303..469
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     exon            470..663
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     exon            664..686
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     exon            687..880
                     /gene="CCDC28B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      860..865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC28B"
                     /note="hexamer: ATTAAA"
     polyA_site      880
                     /gene="CCDC28B"
                     /note="major polyA site"
ORIGIN      
        1 aaatgcaaat gaactccctc cagcttagct ttcacccggt ggtgttcccg ggaggagagg
       61 gcggagggcg gagggaactt gcaccgaagc atcactcgag accccaaacc tccaggcctg
      121 aggcccagcc agcgcccaat ggatgacaaa aagaagaaac ggagtcccaa gccctgcctg
      181 gcccagccag cccaggcccc aggcacacta cggagggtcc ctgtgcctac cagccacagc
      241 ggctccttgg ccctaggact tcctcatctg ccatccccca agcagcgggc caagttcaag
      301 agagtaggca aagagaagtg ccgcccagtc ctggctggag gtggaagcgg ctctgcaggc
      361 acgcccctgc agcactcctt cctgaccgag gtgactgatg tctatgagat ggagggggga
      421 ctcctgaacc tgctcaatga tttccactct ggccggctgc aggccttcgg gaaggaatgc
      481 tcctttgagc agctggagca cgttcgggag atgcaggaga agctagcccg gctgcacttc
      541 agcctggatg tgtgtgggga ggaggaggac gatgaagagg aagaggatgg ggtcactgag
      601 gggctgccag aggagcagaa gaagacaatg gctgaccgta acctggacca gctgcttagc
      661 aatctggaag acctcagtaa ttctatccag aagctgcacc tggccgagaa cgccgagcct
      721 gaggagcagt ccgctgcgta ggcgtcccac gcaggcccac actgcccctc tcattctctt
      781 caaactgtga ctttttacag actcgggcgg gtgttctgcg gccccccagg tgctatgggg
      841 gaggggggcg ttgaatggaa ttaaaccaga aagaaagcaa
//
