LOCUS       NM_032898               2158 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens centrosomal protein 19 (CEP19), transcript variant 1,
            mRNA.
ACCESSION   NM_032898 XM_942037
VERSION     NM_032898.5
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 2158)
  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 2158)
  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 2158)
  AUTHORS   Yildiz Bolukbasi,E., Mumtaz,S., Afzal,M., Woehlbier,U., Malik,S.
            and Tolun,A.
  TITLE     Homozygous mutation in CEP19, a gene mutated in morbid obesity, in
            Bardet-Biedl syndrome with predominant postaxial polydactyly
  JOURNAL   J Med Genet 55 (3), 189-197 (2018)
   PUBMED   29127258
  REMARK    GeneRIF: CEP19 encodes a centrosomal and ciliary protein, as all
            BBS genes do. Another truncating mutation p.Arg82* has been
            reported as responsible for morbid obesity in a family; however, in
            the family we present, not all homozygotes are obese, although some
            are severely obese.
REFERENCE   4  (bases 1 to 2158)
  AUTHORS   Kanie,T., Abbott,K.L., Mooney,N.A., Plowey,E.D., Demeter,J. and
            Jackson,P.K.
  TITLE     The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate
            Intraflagellar Transport at the Ciliary Base
  JOURNAL   Dev Cell 42 (1), 22-36 (2017)
   PUBMED   28625565
  REMARK    GeneRIF: CEP19 is recruited to the ciliary base by the centriolar
            CEP350/FOP complex and then specifically captures GTP-bound RABL2B,
            which is activated via its intrinsic nucleotide exchange.
REFERENCE   5  (bases 1 to 2158)
  AUTHORS   Nishijima,Y., Hagiya,Y., Kubo,T., Takei,R., Katoh,Y. and
            Nakayama,K.
  TITLE     RABL2 interacts with the intraflagellar transport-B complex and
            CEP19 and participates in ciliary assembly
  JOURNAL   Mol Biol Cell 28 (12), 1652-1666 (2017)
   PUBMED   28428259
  REMARK    GeneRIF: RABL2 binds to CEP19 and the IFT74-IFT81 heterodimer in a
            mutually exclusive manner.
REFERENCE   6  (bases 1 to 2158)
  AUTHORS   Mojarad,B.A., Gupta,G.D., Hasegan,M., Goudiam,O., Basto,R.,
            Gingras,A.C. and Pelletier,L.
  TITLE     CEP19 cooperates with FOP and CEP350 to drive early steps in the
            ciliogenesis programme
  JOURNAL   Open Biol 7 (6) (2017)
   PUBMED   28659385
REFERENCE   7  (bases 1 to 2158)
  AUTHORS   Gupta,G.D., Coyaud,E., Goncalves,J., Mojarad,B.A., Liu,Y., Wu,Q.,
            Gheiratmand,L., Comartin,D., Tkach,J.M., Cheung,S.W., Bashkurov,M.,
            Hasegan,M., Knight,J.D., Lin,Z.Y., Schueler,M., Hildebrandt,F.,
            Moffat,J., Gingras,A.C., Raught,B. and Pelletier,L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   8  (bases 1 to 2158)
  AUTHORS   Grossmann,A., Benlasfer,N., Birth,P., Hegele,A., Wachsmuth,F.,
            Apelt,L. and Stelzl,U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2158)
  AUTHORS   Shalata,A., Ramirez,M.C., Desnick,R.J., Priedigkeit,N.,
            Buettner,C., Lindtner,C., Mahroum,M., Abdul-Ghani,M., Dong,F.,
            Arar,N., Camacho-Vanegas,O., Zhang,R., Camacho,S.C., Chen,Y.,
            Ibdah,M., DeFronzo,R., Gillespie,V., Kelley,K., Dynlacht,B.D.,
            Kim,S., Glucksman,M.J., Borochowitz,Z.U. and Martignetti,J.A.
  TITLE     Morbid obesity resulting from inactivation of the ciliary protein
            CEP19 in humans and mice
  JOURNAL   Am J Hum Genet 93 (6), 1061-1071 (2013)
   PUBMED   24268657
  REMARK    GeneRIF: loss of the ciliary protein CEP19 in humans and mice
            causes morbid obesity.
REFERENCE   10 (bases 1 to 2158)
  AUTHORS   Jakobsen,L., Vanselow,K., Skogs,M., Toyoda,Y., Lundberg,E.,
            Poser,I., Falkenby,L.G., Bennetzen,M., Westendorf,J., Nigg,E.A.,
            Uhlen,M., Hyman,A.A. and Andersen,J.S.
  TITLE     Novel asymmetrically localizing components of human centrosomes
            identified by complementary proteomics methods
  JOURNAL   EMBO J 30 (8), 1520-1535 (2011)
   PUBMED   21399614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314070.1, BC007827.2, AK058155.1 and AC055725.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 16, 2018 this sequence version replaced NM_032898.4.
            
            Summary: The protein encoded by this gene localizes to centrosomes
            and primary cilia and co-localizes with a marker for the mother
            centriole. This gene resides in a region of human chromosome 3 that
            is linked to morbid obesity. A homozygous knockout of the
            orthologous gene in mouse resulted in mice with morbid obesity,
            hyperphagy, glucose intolerance, and insulin resistance. Mutations
            in this gene cause morbid obesity and spermatogenic failure
            (MOSPGF). This gene has a pseudogene on human chromosome 2.
            [provided by RefSeq, Apr 2014].
            
            Transcript Variant: Variants 1, 3 and 4 encode the same isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript 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 :: DA565308.1, SRR1803613.37543.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2148093,
                                           SAMEA2153307 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000409690.5/
                                                ENSP00000387209.4
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-884               AK314070.1         14-897
            885-1321            BC007827.2         858-1294
            1322-1385           AK058155.1         1264-1327
            1386-2158           AC055725.22        73343-74115         c
FEATURES             Location/Qualifiers
     source          1..2158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q29"
     gene            1..2158
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /note="centrosomal protein 19"
                     /db_xref="GeneID:84984"
                     /db_xref="HGNC:HGNC:28209"
                     /db_xref="MIM:615586"
     exon            1..322
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /inference="alignment:Splign:2.1.0"
     exon            323..522
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /inference="alignment:Splign:2.1.0"
     CDS             393..884
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     centrosomal protein 19kDa"
                     /codon_start=1
                     /product="centrosomal protein of 19 kDa isoform 1"
                     /protein_id="NP_116287.3"
                     /db_xref="CCDS:CCDS43193.3"
                     /db_xref="GeneID:84984"
                     /db_xref="HGNC:HGNC:28209"
                     /db_xref="MIM:615586"
                     /translation="MMCTAKKCGIRFQPPAIILIYESEIKGKIRQRIMPVRNFSKFSD
                     CTRAAEQLKNNPRHKSYLEQVSLRQLEKLFSFLRGYLSGQSLAETMEQIQRETTIDPE
                     EDLNKLDDKELAKRKSIMDELFEKNQKKKDDPNFVYDIEVEFPQDDQLQSCGWDTESA
                     DEF"
     exon            523..2158
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2139..2144
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /note="hexamer: AATAAA"
     polyA_site      2158
                     /gene="CEP19"
                     /gene_synonym="C3orf34; MOSPGF"
                     /note="major polyA site"
ORIGIN      
        1 ctgtcgctgt ggaaaccgct aggccagcgc tcgccgggac ctggaatccc tgtacgccga
       61 ggtgggagcc ggtggaccgg tcccccagcc ggcccccacc tccgcttccc ggtgtttgag
      121 ggttcgggcc tcccgccggg gagttcaccc ctcgggctcg tcagtagggc tgtggctgtc
      181 gcctcttcct gcagcgccag gctccgcccg gtctcacagt cggcttaggg gctttgcgtg
      241 cactgcggtt gggtggaaaa acccactcct ggttgtttag acgttggcct gcagacgatg
      301 tcatttctgt attcctctaa ggcaggaagt cattatgcaa cttacacata ttcatcagat
      361 ttcctctgac ttacccggac atgtacatgg gaatgatgtg cactgccaag aaatgtggga
      421 ttaggtttca gcctccagct attatcttaa tctatgagag tgaaatcaag gggaaaattc
      481 gccagcgcat tatgccagtt cgaaactttt caaagttttc agattgcacc agagctgctg
      541 aacaattaaa gaataatccg cgacacaaga gttacctaga acaagtatcc ctgaggcagc
      601 tagagaagct attcagtttt ttacgaggtt acttgtcggg gcagagtctg gcagaaacaa
      661 tggaacaaat tcaacgggaa acaaccattg atcctgagga agacctgaac aaactagatg
      721 acaaggagct tgccaaaaga aagagcatca tggatgaact ttttgagaaa aatcagaaga
      781 agaaggatga tccaaatttt gtttatgaca ttgaggttga atttccacag gacgatcaac
      841 tgcagtcctg tggctgggac acagagtcag ctgatgagtt ctgataccaa acactcaaaa
      901 catgcattgg gctagcagaa tatccatgtt tattaccaga ctggttctgg aagaagctgt
      961 aaagaatact aaatatgttg ggttataggg gattgaccat gttacttttc aaaaccagga
     1021 catttaaagc atctactatg taggtgcatg aggagtatgg gaaaaacaga ataaaggaat
     1081 ctgcctttaa ggagcttaca atcatgccgg gtgcggtggc tcacgcctgt aatcccagca
     1141 ctttgggagg ctgaggcggg tggatcacct aaggtcagga gttcgagacc agcctagcca
     1201 acatggtgaa acctcgcctc tactaaaaat acaaaaatta gccaggcgtg gtggcgggtg
     1261 cctgtaatcc cggctactca ggaggctgag gcaggagatt cgcttgaacc tgggaggctg
     1321 aggttgcagt gagccgagat cgcgccattg tactccagcc tgggcgatga gcaaaactcc
     1381 atctcaaaaa aaaaaaaaaa aaaaagctta caatctgact ggaagatgtc aaaacctgtg
     1441 aaaagctaat tagcagtatt aagcaacaca aacattagtg ccaaatgcat gataaaggct
     1501 aaagaaggcc agagcatata ttactgtaga gtagaatagt aagggaagac tttgtccttt
     1561 agtaaagaga taggaggtgg cctggccctt gaaatagtag tgtttaggta gatgcttgtg
     1621 taggattcct gataagagca actgaaaaga aggagagggg aagtagtaaa gggacaagaa
     1681 acaatttttt ttttgaggaa ccataagcaa attatagttt gacaagacaa gattggggga
     1741 catatatggt taccagggaa ttacctctta tgtgttatat ctttatatta tttatctctg
     1801 gaaaagagta ccctgcaaaa ttccctacag ctgcaagcag atgtcacttg atggacagag
     1861 ggggaattct gcccctccgg tatcgggaaa tacatactaa agacattgcg aaacgctgaa
     1921 cctcttccca taaataaaag gtttgtttgt aaaatgggaa atccacccat aataaatgaa
     1981 caataggcac tgccagttta ggcctgttca tgaatggatc tgcaagacag catcttcgtt
     2041 taacaacatt atctgtgatt tgatacattt atccttatta caatattgtt tagttggtag
     2101 aaattctatg ttttctacaa ggaaattgat gtttattaaa taaaactgaa aataatta
//
