LOCUS       NM_030907               1574 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ciliogenesis and planar polarity effector complex
            subunit 2 (CPLANE2), mRNA.
ACCESSION   NM_030907
VERSION     NM_030907.4
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 1574)
  AUTHORS   Langousis,G., Cavadini,S., Boegholm,N., Lorentzen,E., Kempf,G. and
            Matthias,P.
  TITLE     Structure of the ciliogenesis-associated CPLANE complex
  JOURNAL   Sci Adv 8 (15), eabn0832 (2022)
   PUBMED   35427153
REFERENCE   2  (bases 1 to 1574)
  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   3  (bases 1 to 1574)
  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 1574)
  AUTHORS   Agbu,S.O., Liang,Y., Liu,A. and Anderson,K.V.
  TITLE     The small GTPase RSG1 controls a final step in primary cilia
            initiation
  JOURNAL   J Cell Biol 217 (1), 413-427 (2018)
   PUBMED   29038301
REFERENCE   5  (bases 1 to 1574)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1574)
  AUTHORS   Gray,R.S., Abitua,P.B., Wlodarczyk,B.J., Szabo-Rogers,H.L.,
            Blanchard,O., Lee,I., Weiss,G.S., Liu,K.J., Marcotte,E.M.,
            Wallingford,J.B. and Finnell,R.H.
  TITLE     The planar cell polarity effector Fuz is essential for targeted
            membrane trafficking, ciliogenesis and mouse embryonic development
  JOURNAL   Nat Cell Biol 11 (10), 1225-1232 (2009)
   PUBMED   19767740
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109627.18, BP214716.1, BC008702.1, AL559024.3 and AI744915.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030907.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.976020.1,
                                           SRR3476690.519413.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375599.8/ ENSP00000364749.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL109627.18        79506-79524
            20-232              BP214716.1         1-213
            233-697             BC008702.1         1-465
            698-698             AL559024.3         609-609
            699-1566            BC008702.1         467-1334
            1567-1574           AI744915.1         28-35               c
FEATURES             Location/Qualifiers
     source          1..1574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..1574
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /note="ciliogenesis and planar polarity effector complex
                     subunit 2"
                     /db_xref="GeneID:79363"
                     /db_xref="HGNC:HGNC:28127"
                     /db_xref="MIM:620487"
     exon            1..553
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             442..1218
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /note="Rem/Rab-Similar GTPase 1; miro domain-containing
                     protein C1orf89; REM2- and Rab-like small GTPase 1; REM2
                     and RAB like small GTPase 1"
                     /codon_start=1
                     /product="ciliogenesis and planar polarity effector 2"
                     /protein_id="NP_112169.2"
                     /db_xref="CCDS:CCDS171.1"
                     /db_xref="GeneID:79363"
                     /db_xref="HGNC:HGNC:28127"
                     /db_xref="MIM:620487"
                     /translation="MARPPVPGSVVVPNWHESAEGKEYLACILRKNRRRVFGLLERPV
                     LLPPVSIDTASYKIFVSGKSGVGKTALVAKLAGLEVPVVHHETTGIQTTVVFWPAKLQ
                     ASSRVVMFRFEFWDCGESALKKFDHMLLACMENTDAFLFLFSFTDRASFEDLPGQLAR
                     IAGEAPGVVRMVIGSKFDQYMHTDVPERDLTAFRQAWELPLLRVKSVPGRRLADGRTL
                     DGRAGLADVAHILNGLAEQLWHQDQVAAGLLPNPPESAPE"
     exon            554..706
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            707..831
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..968
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1574
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1548..1553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /note="hexamer: GATAAA"
     polyA_site      1574
                     /gene="CPLANE2"
                     /gene_synonym="C1orf89; RSG1"
                     /note="major polyA site"
ORIGIN      
        1 agctgccagc acgcgcagaa ggcggacgca ggcggggcgg aagtgggccc ggcgggctgg
       61 ggcggcggga gtgcgggtgg gcgtttaaag gggccttcgg cacccaggtc ggttcgccgc
      121 cgggactgct gacggggagg gctaggtagc cctgggagtc gggatctaga aggtagagga
      181 gaagcggggc tgtctgaccc ccggaggtga caaggggaga ggggctgtgt gaataccctc
      241 catgggcagt aatgggatga ctatccccag ggagcattgc gaaggagaga ggcggctgag
      301 ggactgcact ttctggggcc ccccgggaga gtcagagggc agttaagagg gatcacaggc
      361 ccggcttggt actgtcactc cccttcccac tccctgctct cagcattctg tcacctccct
      421 accccgtcgc ggtgcccagc catggccaga cctcccgtgc ccggttcggt ggttgtccca
      481 aactggcacg agagtgccga gggcaaggag tacctggctt gcattctgcg caagaaccgc
      541 cggcgggtgt ttgggctgct tgagcggcca gtgctgctgc cgcctgtgtc cattgacact
      601 gccagctaca agatctttgt gtccgggaag agtggtgtgg gcaagacggc gctggtggcc
      661 aagctggctg gcctggaggt gcctgtggtg caccacgaga ccaccggcat ccagaccacc
      721 gtggtatttt ggccagccaa gctgcaggcc agcagccgtg tcgtcatgtt tcgttttgag
      781 ttctgggact gtggagagtc tgcactcaaa aagttcgatc atatgctgct ggcttgcatg
      841 gagaacacag atgccttcct cttcctcttc tccttcactg accgtgcctc ctttgaagac
      901 ctccctggac agctggcccg catagcaggt gaggcccctg gtgtcgtcag gatggtcatc
      961 ggctccaaat ttgaccagta catgcacacg gacgtgcccg agcgggacct cacagccttc
     1021 cggcaggcct gggagctgcc cctgctacgg gtgaagagtg tgccggggcg gcggctggct
     1081 gatgggcgca cactggacgg gcgggctggg ctggccgacg ttgcccacat actcaatggc
     1141 cttgctgagc agctgtggca ccaggaccag gtggcggctg gcctgcttcc caacccccca
     1201 gagagtgctc ctgaatgagt cacgagtggt tgcctgtgat cccaccccca accctcaggt
     1261 ctcgacatag ggctggaggc tggggcagga acatggatcc tatctggagg actggccagc
     1321 atggcctgat cagggaggat gtggccagag aaggcccacc cgcgagcagc gctttccttg
     1381 cagaattcat ggcagggagg tggggaccaa ggccctgagc tcgaacatct cccgtggcct
     1441 ttcccccttt ggcagcaccg atggaggatg actgggagag ggggtgcctc tcaagttact
     1501 tcaatcaaga acctgtattg gttgaggtga caccatctgt tgtaacagat aaaccccgaa
     1561 atcccagtgc tgaa
//
