LOCUS       NM_016122               3686 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens centrosomal protein 83 (CEP83), transcript variant 1,
            mRNA.
ACCESSION   NM_016122
VERSION     NM_016122.3
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 3686)
  AUTHORS   Mansour,F., Hinze,C., Telugu,N.S., Kresoja,J., Shaheed,I.B.,
            Mosimann,C., Diecke,S. and Schmidt-Ott,K.M.
  TITLE     The centrosomal protein 83 (CEP83) regulates human pluripotent stem
            cell differentiation toward the kidney lineage
  JOURNAL   Elife 11, e80165 (2022)
   PUBMED   36222666
  REMARK    GeneRIF: The centrosomal protein 83 (CEP83) regulates human
            pluripotent stem cell differentiation toward the kidney lineage.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3686)
  AUTHORS   Veldman,B.C.F., Kuper,W.F.E., Lilien,M.,
            Schuurs-Hoeijmakers,J.H.M., Marcelis,C., Phan,M., Hettinga,Y.,
            Talsma,H.E., van Hasselt,P.M. and Haijes,H.A.
  TITLE     Beyond nephronophthisis: Retinal dystrophy in the absence of kidney
            dysfunction in childhood expands the clinical spectrum of CEP83
            deficiency
  JOURNAL   Am J Med Genet A 185 (7), 2204-2210 (2021)
   PUBMED   33938610
  REMARK    GeneRIF: Beyond nephronophthisis: Retinal dystrophy in the absence
            of kidney dysfunction in childhood expands the clinical spectrum of
            CEP83 deficiency.
REFERENCE   3  (bases 1 to 3686)
  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   4  (bases 1 to 3686)
  AUTHORS   Lo,C.H., Lin,I.H., Yang,T.T., Huang,Y.C., Tanos,B.E., Chou,P.C.,
            Chang,C.W., Tsay,Y.G., Liao,J.C. and Wang,W.J.
  TITLE     Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation
  JOURNAL   J Cell Biol 218 (10), 3489-3505 (2019)
   PUBMED   31455668
  REMARK    GeneRIF: The results reveal a molecular mechanism of kinase
            regulation in ciliogenesis and identify CEP83 as a key substrate of
            TTBK2 during cilia initiation.
REFERENCE   5  (bases 1 to 3686)
  AUTHORS   Failler,M., Gee,H.Y., Krug,P., Joo,K., Halbritter,J., Belkacem,L.,
            Filhol,E., Porath,J.D., Braun,D.A., Schueler,M., Frigo,A.,
            Alibeu,O., Masson,C., Brochard,K., Hurault de Ligny,B., Novo,R.,
            Pietrement,C., Kayserili,H., Salomon,R., Gubler,M.C., Otto,E.A.,
            Antignac,C., Kim,J., Benmerah,A., Hildebrandt,F. and Saunier,S.
  TITLE     Mutations of CEP83 cause infantile nephronophthisis and
            intellectual disability
  JOURNAL   Am J Hum Genet 94 (6), 905-914 (2014)
   PUBMED   24882706
  REMARK    GeneRIF: We have identified mutations in CEP83, another distal
            appendages component encoding gene, as a cause of infantile
            nephronophthisis associated with central nervous system
            abnormalities in half of the individuals.
REFERENCE   6  (bases 1 to 3686)
  AUTHORS   Joo,K., Kim,C.G., Lee,M.S., Moon,H.Y., Lee,S.H., Kim,M.J.,
            Kweon,H.S., Park,W.Y., Kim,C.H., Gleeson,J.G. and Kim,J.
  TITLE     CCDC41 is required for ciliary vesicle docking to the mother
            centriole
  JOURNAL   Proc Natl Acad Sci U S A 110 (15), 5987-5992 (2013)
   PUBMED   23530209
  REMARK    GeneRIF: CCDC41 is required for the docking of ciliary vesicles
REFERENCE   7  (bases 1 to 3686)
  AUTHORS   Tanos,B.E., Yang,H.J., Soni,R., Wang,W.J., Macaluso,F.P.,
            Asara,J.M. and Tsou,M.F.
  TITLE     Centriole distal appendages promote membrane docking, leading to
            cilia initiation
  JOURNAL   Genes Dev 27 (2), 163-168 (2013)
   PUBMED   23348840
REFERENCE   8  (bases 1 to 3686)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA440413.1, AF155115.1,
            BC107746.1, BC053614.1 and AC073655.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016122.2.
            
            Summary: The protein encoded by this gene is a centriolar protein
            involved in primary cilium assembly. Defects in this gene have been
            associated with infantile nephronophthisis and intellectual
            disability. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a). Variants 1, 2, and
            3 all encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1468290.1,
                                           SRR1803616.248357.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397809.10/ ENSP00000380911.4
            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
            1-162               DA440413.1         3-164
            163-800             AF155115.1         1-638
            801-1482            BC107746.1         183-864
            1483-1494           AF155115.1         1320-1331
            1495-2876           BC053614.1         1520-2901
            2877-3098           AF155115.1         2712-2933
            3099-3104           BC053614.1         3123-3128
            3105-3686           AC073655.26        66661-67242         c
FEATURES             Location/Qualifiers
     source          1..3686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q22"
     gene            1..3686
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /note="centrosomal protein 83"
                     /db_xref="GeneID:51134"
                     /db_xref="HGNC:HGNC:17966"
                     /db_xref="MIM:615847"
     exon            1..311
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            312..364
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            365..638
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..2571
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /note="isoform a is encoded by transcript variant 1;
                     NY-REN-58 antigen; coiled-coil domain-containing protein
                     41; renal carcinoma antigen NY-REN-58; centrosomal protein
                     of 83 kDa"
                     /codon_start=1
                     /product="centrosomal protein of 83 kDa isoform a"
                     /protein_id="NP_057206.2"
                     /db_xref="CCDS:CCDS41820.1"
                     /db_xref="GeneID:51134"
                     /db_xref="HGNC:HGNC:17966"
                     /db_xref="MIM:615847"
                     /translation="MVVSTFTDMDTFPNNFPPGGDSGLTGSQSEFQKMLIDERLRCEH
                     HKANYQTLKAEHTRLQNEHVKLQNELKHLFNEKQTQQEKLQLLLEELRGELVEKTKDL
                     EEMKLQILTPQKLELLRAQIQQELETPMRERFRNLDEEVEKYRAVYNKLRYEHTFLKS
                     EFEHQKEEYARILDEGKIKYESEIARLEEDKEELRNQLLNVDLTKDSKRVEQLAREKV
                     YLCQKLKGLEAEVAELKAEKENSEAQVENAQRIQVRQLAEMQATVRSLEAEKQSANLR
                     AERLEKELQSSSEQNTFLINKLHKAEREINTLSSKVKELKHSNKLEITDIKLETARAK
                     SELERERNKIQSELDGLQSDNEILKAAVEHHKVLLVEKDRELIRKVQAAKEEGYQKLV
                     VLQDEKLELENRLADLEKMKVEHDVWRQSEKDQYEEKLRASQMAEEITRKELQSVRLK
                     LQQQIVTIENAEKEKNENSDLKQQISSLQIQVTSLAQSENDLLNSNQMLKEMVERLKQ
                     ECRNFRSQAEKAQLEAEKTLEEKQIQWLEEKHKLHERITDREEKYNQAKEKLQRAAIA
                     QKKRKSLHENKLKRLQEKVEVLEAKKEELETENQVLNRQNVPFEDYTRLQKRLKDIQR
                     RHNEFRSLILVPNMPPTASINPVSFQSSAMVPSMELPFPPHMQEEQHQRELSLLRKRL
                     EELETTQRKQLEELGSSGE"
     exon            639..789
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            790..882
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1014
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1266
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1398
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1513
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1658
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1659..1808
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1884
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            1885..2042
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2172
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            2173..2276
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2466
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     exon            2467..3686
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3080..3085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /note="hexamer: ATTAAA"
     polyA_site      3104
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /note="major polyA site"
     regulatory      3318..3323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
                     /note="hexamer: AATAAT"
     polyA_site      3343
                     /gene="CEP83"
                     /gene_synonym="CCDC41; NPHP18; NY-REN-58"
ORIGIN      
        1 acccctgagg atcccggtcc acgcggagga gtggggcttt tcaccgccgc cgccgccgcc
       61 ctcggacctc tcccgggata cttcacattt ccctagggac gggagcccga ggggtccgtt
      121 cggccctctt cctctcgctg ggccgacacc ccgctgtagg accgtaaccc ttagtcccaa
      181 tgcctccgta agcggagttg agtgggtgcc tgtggttgga gctgtggagg tgtccccggt
      241 ggcgagcgcg gccagaactg cggtcactta agttttccgt gtgcgggttg caaggagcgt
      301 gcgtgcgtct ggtataggga ggacacctct ggattgagga tcttatgacc tactttagag
      361 gaaggtataa tttggcttcc tgagattctg ccttagcaag aaaggagtgg gaaataccct
      421 tggaaagaaa actaaaacag taagaaagcc aaaacttatt tttacatggt tgtcagcaca
      481 tttaccgata tggacacttt tcccaataat tttcctcctg gtggagacag tggattgaca
      541 ggttctcagt cggagttcca gaaaatgtta attgatgaaa ggttacgatg tgagcatcat
      601 aaagctaatt atcagacact gaaggctgaa cacacaaggt tgcagaatga acatgtaaag
      661 ttacaaaatg aactcaagca cctgtttaat gaaaagcaaa ctcagcagga aaaacttcag
      721 ctcctgcttg aagaactaag aggagaatta gtagagaaaa ctaaagattt agaagaaatg
      781 aaactgcaga tattaactcc acaaaaattg gaattgctaa gagcccaaat acaacaagaa
      841 ttagaaactc caatgagaga acgttttagg aatctagatg aagaggtaga aaagtataga
      901 gctgtatata ataagcttcg ctatgaacat acatttctca agtcagaatt tgaacaccag
      961 aaggaagagt atgcacgtat tttagatgaa ggaaaaataa aatatgaatc agagattgca
     1021 agactggagg aagataaaga agaactacgt aaccagctgc ttaatgttga tctcacaaaa
     1081 gacagcaaac gagtggaaca acttgctcga gaaaaagtct atttgtgtca aaaattaaaa
     1141 ggtttagagg ctgaagtagc ggaattaaag gctgaaaagg agaattctga ggctcaggtg
     1201 gaaaatgccc aaagaataca ggtgcggcag ttggctgaga tgcaggctac agtcagatcc
     1261 ctggaggctg aaaaacaatc agctaattta cgggcagaac gtttggaaaa agagctacaa
     1321 tcaagcagtg aacaaaatac ctttttaatt aataaattgc ataaagctga acgagaaata
     1381 aatacattgt ccagtaaagt aaaagaactt aaacattcaa acaaactgga aataacagac
     1441 atcaaactgg agacagcaag agctaagagt gagctagaaa gagaaaggaa taagattcaa
     1501 agtgaactgg atggattaca gtcagacaat gaaattctca aagcagctgt tgaacatcac
     1561 aaagtgctct tagtagaaaa ggatcgtgaa ttaatacgta aagtacaagc tgccaaagaa
     1621 gaaggttatc aaaaacttgt ggtattacaa gatgaaaagt tagaactcga gaacagatta
     1681 gcagatttgg agaaaatgaa agtggaacat gatgtctgga ggcaatctga aaaggatcag
     1741 tatgaagaga aattgcgggc ttcacagatg gcagaagaga tcaccaggaa ggagcttcag
     1801 agtgttaggt taaaacttca gcaacaaatt gtgactattg aaaatgcaga gaaggaaaaa
     1861 aatgaaaatt ctgacctaaa acagcaaatc agtagtttgc agatccaagt gacttcactt
     1921 gcacagtcag agaatgactt gctgaattca aaccaaatgc tgaaggaaat ggtggagaga
     1981 ttaaaacaag aatgccgaaa ttttagaagc caagctgaaa aagcgcaact agaagctgaa
     2041 aagacattgg aagagaaaca gatacagtgg ttggaagaaa agcataagct tcatgagcgt
     2101 atcacagaca gagaagaaaa gtacaatcaa gctaaggaga aactgcagcg agctgcaatt
     2161 gcccagaaaa agagaaaatc tcttcatgaa aacaaattga aaagactaca agagaaagta
     2221 gaagtcttgg aggcaaagaa agaagaattg gaaacagaaa atcaggtctt aaatagacaa
     2281 aatgttcctt ttgaagacta tacaaggctt caaaaaagac taaaagatat acagagaaga
     2341 cataatgaat ttcgaagtct aattttggtt cctaacatgc ctccaacagc atctatcaat
     2401 cctgttagct ttcagtcatc agccatggtt ccaagcatgg aactaccatt tcctcctcat
     2461 atgcaggagg aacaacatca aagggaactc tctctacttc gcaaaagact agaagaactg
     2521 gaaacaacac aaagaaaaca actagaggaa cttggatctt ccggagaatg atgttcttgg
     2581 agaacaggca gatcaaaaga ggtgaagttg gtgactcagt aaaacttgac attttaacct
     2641 gtggcattta gatacttttt actgtttgcc aaaacacttg aatgtgcctc aagaaaaggt
     2701 acctactaca tgctgtattg tatgactgtc aggattttaa gattatacaa gtgaagcatt
     2761 aaaagagaaa ttctcagaga tatttagaat atttgacaat ggtttgagaa tgtaaaacaa
     2821 aaaggaacta gttagagtca agttttaaaa tttttacttt gttgaatttt tttttttggc
     2881 attttgagtg aaatataact atcattaatt ctctcttcat ctttgagatg cttggccata
     2941 acagggtcca tacacatctt ctggtttact atatacaaaa actgtagttg aaaaaagatg
     3001 acaatttaaa agtcagccta aagaatgtaa aggtatctat atacaaaagg ctaccttttc
     3061 taaaatctgt gtgcacataa ttaaagagct taattttttt ttaatcgtgt gtttaatttt
     3121 acatcaacca tatagcatat atttagcaat atgacagtct actgattttg gctttgttag
     3181 aatagagaat aagtgcaaat aattaaatcc tatggctgta ttaacaaggg ggccattgat
     3241 tataaaactt gaactcaggt ccttttataa acattgttgg tatttaactt tacttcccat
     3301 tactgtggat ctaaccaaat aattatgtgt tttgtgtccc taagtatgct ctcatttttt
     3361 ttggtctaca cccattggaa gcctttttaa tgtgacatct tttagaggaa ttctgctgga
     3421 ataatttcat gttaacgagg ctaaagctca agtctcccaa attaagtgga atgttcatta
     3481 tcccaaggtg ttcatagtca aaagtcccag ttgatagtga agaaggccag gactgtaatt
     3541 gagcagtcct tagcaccatt tagcaaacta ggtttactta ctacataata tagctgctta
     3601 ttcacagcat atacagtgac accttatctc tgaaaaataa tttccacgga gccacttaga
     3661 ataaaaaaac tattataact agaaaa
//
