LOCUS       NM_001170439            4315 bp    mRNA    linear   ROD 29-MAR-2024
DEFINITION  Rattus norvegicus EvC ciliary complex subunit 1 (Evc), mRNA.
ACCESSION   NM_001170439 XM_001056511 XM_223512
VERSION     NM_001170439.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 4315)
  AUTHORS   Zaka,A., Shahzad,S., Rao,H.Z., Kanwal,S., Gul,A. and Basit,S.
  TITLE     An intrafamilial phenotypic variability in Ellis-Van Creveld
            syndrome due to a novel 27 bps deletion mutation
  JOURNAL   Am J Med Genet A 185 (10), 2888-2894 (2021)
   PUBMED   34037314
REFERENCE   2  (bases 1 to 4315)
  AUTHORS   Liu,F., Liu,X., Xu,Z., Yuan,P., Zhou,Q., Jin,J., Yan,X., Xu,Z.,
            Cao,Q., Yu,J., Cheng,Y., Wan,R. and Hong,K.
  TITLE     Molecular mechanisms of Ellis-van Creveld gene variations in
            ventricular septal defect
  JOURNAL   Mol Med Rep 17 (1), 1527-1536 (2018)
   PUBMED   29257216
REFERENCE   3  (bases 1 to 4315)
  AUTHORS   Ibarra-Ramirez,M., Campos-Acevedo,L.D., Lugo-Trampe,J.,
            Martinez-Garza,L.E., Martinez-Glez,V., Valencia-Benitez,M.,
            Lapunzina,P. and Ruiz-Perez,V.
  TITLE     Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation
            in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld
            Syndrome
  JOURNAL   Am J Case Rep 18, 1325-1329 (2017)
   PUBMED   29229899
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4315)
  AUTHORS   Pusapati,G.V., Hughes,C.E., Dorn,K.V., Zhang,D., Sugianto,P.,
            Aravind,L. and Rohatgi,R.
  TITLE     EFCAB7 and IQCE regulate hedgehog signaling by tethering the
            EVC-EVC2 complex to the base of primary cilia
  JOURNAL   Dev Cell 28 (5), 483-496 (2014)
   PUBMED   24582806
REFERENCE   5  (bases 1 to 4315)
  AUTHORS   Blair,H.J., Tompson,S., Liu,Y.N., Campbell,J., MacArthur,K.,
            Ponting,C.P., Ruiz-Perez,V.L. and Goodship,J.A.
  TITLE     Evc2 is a positive modulator of Hedgehog signalling that interacts
            with Evc at the cilia membrane and is also found in the nucleus
  JOURNAL   BMC Biol 9, 14 (2011)
   PUBMED   21356043
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4315)
  AUTHORS   Ruiz-Perez,V.L., Blair,H.J., Rodriguez-Andres,M.E., Blanco,M.J.,
            Wilson,A., Liu,Y.N., Miles,C., Peters,H. and Goodship,J.A.
  TITLE     Evc is a positive mediator of Ihh-regulated bone growth that
            localises at the base of chondrocyte cilia
  JOURNAL   Development 134 (16), 2903-2912 (2007)
   PUBMED   17660199
REFERENCE   7  (bases 1 to 4315)
  AUTHORS   Tsuji,T., Nakamura,H., Hirata,A. and Yamamoto,T.
  TITLE     Expression of the Ellis-van Creveld (Evc) gene in the rat tibial
            growth plate
  JOURNAL   Anat Rec A Discov Mol Cell Evol Biol 279 (2), 729-735 (2004)
   PUBMED   15278943
  REMARK    GeneRIF: Evc gene functions mainly in prehypertrophic and
            hypertrophic chondrocytes of epiphyseal growth plate. Important for
            future studies of underlying mechanism of chondrodysplasia in
            Ellis-van Creveld syndrome.
REFERENCE   8  (bases 1 to 4315)
  AUTHORS   Ruiz-Perez,V.L., Ide,S.E., Strom,T.M., Lorenz,B., Wilson,D.,
            Woods,K., King,L., Francomano,C., Freisinger,P., Spranger,S.,
            Marino,B., Dallapiccola,B., Wright,M., Meitinger,T.,
            Polymeropoulos,M.H. and Goodship,J.
  TITLE     Mutations in a new gene in Ellis-van Creveld syndrome and Weyers
            acrodental dysostosis
  JOURNAL   Nat Genet 24 (3), 283-286 (2000)
   PUBMED   10700184
  REMARK    Erratum:[Nat Genet 2000 May;25(1):125]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000014.1.
            
            On or before Dec 20, 2009 this sequence version replaced
            XM_001056511.1, XM_223512.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence because no single transcript was available for the
            full length of the gene. The extent of this transcript is supported
            by transcript alignments and orthologous data.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR26643287.30501.1,
                                           SRR21887622.2549668.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760393, SAMEA5760400
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-240               JAXUCZ010000014.1  77680966-77681205
            241-360             JAXUCZ010000014.1  77685123-77685242
            361-444             JAXUCZ010000014.1  77690431-77690514
            445-692             JAXUCZ010000014.1  77692952-77693199
            693-777             JAXUCZ010000014.1  77694666-77694750
            778-876             JAXUCZ010000014.1  77695754-77695852
            877-1014            JAXUCZ010000014.1  77697263-77697400
            1015-1173           JAXUCZ010000014.1  77699303-77699461
            1174-1390           JAXUCZ010000014.1  77701378-77701594
            1391-1539           JAXUCZ010000014.1  77702160-77702308
            1540-1638           JAXUCZ010000014.1  77704224-77704322
            1639-1851           JAXUCZ010000014.1  77706083-77706295
            1852-1961           JAXUCZ010000014.1  77707089-77707198
            1962-2172           JAXUCZ010000014.1  77708860-77709070
            2173-2379           JAXUCZ010000014.1  77710260-77710466
            2380-2524           JAXUCZ010000014.1  77711413-77711557
            2525-2636           JAXUCZ010000014.1  77713276-77713387
            2637-2763           JAXUCZ010000014.1  77717098-77717224
            2764-2857           JAXUCZ010000014.1  77718433-77718526
            2858-2969           JAXUCZ010000014.1  77719234-77719345
            2970-4315           JAXUCZ010000014.1  77719663-77721008
FEATURES             Location/Qualifiers
     source          1..4315
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="14"
                     /map="14q21"
     gene            1..4315
                     /gene="Evc"
                     /note="EvC ciliary complex subunit 1"
                     /db_xref="GeneID:289712"
                     /db_xref="RGD:735186"
     exon            1..240
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..3093
                     /gene="Evc"
                     /note="Ellis van Creveld gene homolog; Ellis van Creveld
                     syndrome protein; Ellis van Creveld syndrome homolog;
                     Ellis van Creveld protein; ellis-van Creveld syndrome
                     protein homolog"
                     /codon_start=1
                     /product="evC complex member EVC"
                     /protein_id="NP_001163910.1"
                     /db_xref="GeneID:289712"
                     /db_xref="RGD:735186"
                     /translation="MTCRRDARLQLGREALQAAPTLLVPAVLLGALLGLGLGLWLGCR
                     ARRLRARLQKDDTKHLLRSSEPPAQSLRDTSSKARRRQRETTRDEDAPEVCEPSLSGN
                     ITAFALKARVVYPINQKFRPLADGSSHPSLHENLTQAAAILPHLPHQPAEASPASSLG
                     SLSQAGKEDGSSSSSMQSTYSDDRVLQCAFLRVGSFPEILAYESVDIDLCVCSLHLKD
                     LLQVDAALRQEKHLMFLQILKACLLECFPKKKPEEELYQKILSKQEHDLEELEKGLQA
                     RLANTEMLGTGDSGYISLADVERKERELSEQLIDNMGAFWKQMESMQPILMDQLKCSS
                     SKARQLMMTLTGRMIVAEGLLHESQDLHVLDTLERTMGRAHMARIVEFLRTQIQEETK
                     CRLAAISRGLELLTVQGQLSGRQKEELLTQQHKAFWEEAECFGREFMQRGKDLVQVSQ
                     AHRAEAVAELTRAQEEERRIFLADTQPTSDPEEFLKAFHEVLERQRLTRSDQEGEEDT
                     RITEAMAALCQELYCGTMETFQKFVDTLFLKTLPEVSSLPVAECEALRQQVQEQAARQ
                     LGQADRFRRRQWGLLCDLLEQDKRVWLEECTLSTVLQRQLRDHHESTIHGVLSRFSGL
                     SEESTRGILQGHELLLCSALRRLALRGTTITALAQMRLSGKKRLLQELHEQLALEQGV
                     SPCLEEHQWQLLRALEARILEETARLEDEAQQTALRLQQQLLAEAQEAGQLLQLHSER
                     AIGQALLVHARNVASKGRTRDKEDFKRTLVETVVESVYVTSTSVNRLVQVHYQGIGKL
                     LQAHEEQLLQRLKTLQDERINAYKLWKKQEFSDPPSESQTPGGTHGAPQAVQQRMTSQ
                     RKKLLDQFTKHQQGRLNSQRQKAQELDQLEAQLETQLQEAEQTLISELATLARVPLAE
                     NKPFSNKRGLPEKPVRTKRKKPPPREREDLGLPNDDHPALADHSTGPLSAVYSASPPI
                     LVHSNGKLGQQDGEACDGENTRKILQKRSNL"
     exon            241..360
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            361..444
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            445..692
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            693..777
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            778..876
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            877..1014
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1173
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1390
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1539
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1638
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1851
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1961
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2172
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2173..2379
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2380..2524
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2525..2636
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2637..2763
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2764..2857
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2858..2969
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2970..4315
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggctcgggcg cagcgggaaa gggtaccgag gcgaggagct ggcgggcggc gggatgcggc
       61 gggtcacccg cccgagccct catgacctgc aggagagatg cgcgactgca gctgggccgg
      121 gaagccctgc aggcggcgcc tacgctgctg gtccccgcag tgctactggg tgccttactc
      181 ggcctgggcc tcggcctgtg gctcggctgt cgtgcgaggc gcttgcgcgc gcggctccag
      241 aaagatgaca caaaacatct gctcaggagt tcggagcccc ctgcacagag cctccgggat
      301 actagctcca aagccaggag gcgacagaga gaaaccactc gagatgaaga tgctcctgag
      361 gtgtgtgagc cgtccttgag tggcaacatc acggcctttg cactgaaagc cagagttgtc
      421 tatcccatca accagaagtt ccggcctctg gctgacggat cctcccaccc atcgctgcat
      481 gaaaacctga cacaggcagc agccatcctg cctcaccttc cccaccagcc ggcagaggcc
      541 tcgccagcca gcagtctggg cagcctgagc caggctggca aggaggatgg cagctcctcc
      601 tccagcatgc agtcaaccta cagcgacgac agggtcctcc agtgtgcctt cctccgggtg
      661 ggcagcttcc ctgagattct ggcctatgag agtgtagata ttgacctgtg tgtctgcagc
      721 cttcacctga aagacctgct tcaggtagac gcggcgctga ggcaggagaa gcacctgatg
      781 ttccttcaga ttcttaaagc atgcctcctg gaatgttttc ctaaaaagaa gcctgaggag
      841 gaattatacc agaagattct ttccaaacaa gaacatgatt tggaggaatt agaaaaagga
      901 cttcaggcca gattggcaaa cacagaaatg ttaggtaccg gcgactctgg ctacatttcc
      961 ctggcagatg tggagaggaa ggagagagag ctctcagagc agctcataga caatatggga
     1021 gctttctgga agcagatgga aagcatgcag cccattctca tggaccagct taagtgttcc
     1081 agctccaagg cacggcagct catgatgact ctgacgggaa gaatgattgt cgctgaagga
     1141 ctgctgcatg agtctcagga cctgcatgtc ctggacactc tggagaggac aatgggtcga
     1201 gcccacatgg caagaattgt agagttcctg aggacccaga tccaggagga gaccaagtgc
     1261 cggctggccg ccatctcccg tggcctggag ctgctgactg tccaggggca gctgtctggg
     1321 aggcagaagg aggaacttct gacccaacag cacaaggcct tctgggagga ggcagagtgc
     1381 tttggcaggg agtttatgca gcggggcaaa gacctggtcc aggtgtctca ggctcaccgg
     1441 gcagaggcag tggcagagct cacacgggcc caagaagaag aacggaggat tttcctggct
     1501 gatacccagc caacctcaga tccggaagag ttcctcaagg cttttcatga ggtactggag
     1561 aggcagcggc tgacacggag tgaccaggag ggggaggagg acaccaggat cactgaggcc
     1621 atggctgcgc tctgccagga gctctactgt ggcaccatgg aaacgttcca aaagtttgtg
     1681 gacaccctgt ttctgaagac cctcccggaa gtgagcagcc tccctgtggc agaatgcgag
     1741 gccctgaggc aacaggtcca ggaacaggca gcaaggcagc tggggcaggc agaccgattc
     1801 cgcagacgac agtgggggct cctgtgtgac ctcttggagc aggacaaacg ggtgtggctg
     1861 gaggagtgca cgctctccac agtgctgcag aggcagctgc gggatcacca cgagagcacc
     1921 atccacgggg tcctgagcag attcagtggc ctctcggaag agtccacacg aggcatcctg
     1981 cagggacatg agctgctgct gtgctctgct ctgcgcagac tggccctccg aggtaccacc
     2041 atcactgccc tggctcagat gaggctgtct gggaagaaga ggctcctgca ggagctacat
     2101 gagcagctag ctttagagca gggtgtgtcc ccatgcctgg aggagcatca atggcagctg
     2161 ctcagagccc tggaggcacg gatcctggag gagacagcca ggttggagga tgaggcacag
     2221 cagaccgctc tgcggctcca gcagcagctg ctggcggagg cacaggaagc agggcagctg
     2281 ttgcagctgc actcggagcg ggccattggg caggcgctgc tggtacatgc taggaatgta
     2341 gccagcaaag gccggaccag ggataaggaa gactttaaga ggacgctggt ggagacagtg
     2401 gtggagagtg tgtatgtgac cagcactagt gtcaaccgcc ttgtgcaggt gcattaccag
     2461 ggcatcggga agctcctgca ggcccatgaa gaacaattgc tgcagcgcct gaagacccta
     2521 caggatgaga gaatcaatgc ttacaagctg tggaagaagc aagaattcag tgacccacca
     2581 tcagagagcc agacaccagg cggtacccat ggagcgcccc aggctgtaca gcagaggatg
     2641 acgtcacagc ggaagaagct cctggaccag ttcacaaagc accagcaggg ccgcctgaac
     2701 tctcagaggc agaaggcaca agagctggac cagctggaag cccagcttga gacccagctg
     2761 caggaagctg agcagaccct tatctcggag ctggcgacat tggcccgagt gccccttgct
     2821 gagaacaagc cattctccaa caagcgaggc ctgccagaga agccggtaag gaccaaaagg
     2881 aagaagcccc cacctcggga gagagaggac ctggggctac caaacgatga ccaccctgcc
     2941 ttggccgacc actccacagg accactcagt gcagtgtact cagcatcgcc gcccatcctt
     3001 gtccacagca acggaaagct gggtcagcag gacggcgaag cttgtgatgg agaaaacacg
     3061 aggaagatac tgcagaaaag aagcaatctg tgagctgctg agacggcctg ccatgcacct
     3121 cacttcctct gtgcgactgg gggacagaag aataggccag tcttgagaga gggggtgcca
     3181 cctgccttag aaagtgaaga tggcgagaca gtagcaccaa gtgcctggga tcattggaaa
     3241 cgatggggac atgcccttga gaatgtagca tctcagcttt caccctggac ctcttgccct
     3301 gatctcttcc tccctcagga gggtcctcta cccctgccct ccagcctcac acagtgtctt
     3361 ggtgctgcct aacagtctgg ttagagattg gagaccctga ttcccagcat gcatgaagtc
     3421 ctgcccatca gggtctcagc atggctggta ttttccaggc ctgaggccac tgtttcatct
     3481 ccaccatcca cagtcatccc ctggtccctg gctctggctg ccaggatccc aactggaacc
     3541 aacttttggc cttgctattt ctatctgttg gctcaggtag ccctgggacc tgggcaccca
     3601 aggatgtgtg agtcccaggg ccaacgttct tggcataaca aaggggttcc agacacacag
     3661 acctgttctg aaccactcag aacatgggga ccatacttgc ctgtcacata taacaaggag
     3721 tcctctgtgg gcagggaaga catagaagga cactgttcct accaccagga gtcgctgagg
     3781 agaggaaatc atccctcgag gagacaccca caggtcacct gcccttccga gggatgatga
     3841 agacttcata agctttcaaa ccagccacac ttgccccata ggccagaggc ctttcccacc
     3901 caggggggct ttctcttcca gcagcatcta ggattcccaa tcatcactgt caacatttgg
     3961 gtatgatcac tcattatcca ggtgtgaaag ctgctgctgc caaagatgga gtctcttatg
     4021 tcagacccac acccatgtgg agctgggagg ttgtgggcgg cacacacagg tacatctgag
     4081 atgagagcca tcactcaatg gaaacacacc ttcaggtttc ctgctcttag gagacacctc
     4141 ccaaggaaca gcagtgtgtc tgggagtgac accagaggca gaaagagggc ctgactaagg
     4201 acttggctga ggcagcaacc aatgttccct tttcttcctc caatactatt cccccagcct
     4261 cctgtgccat aacctccttg ctgcctcttc ctaaataaag aactctaccc cagga
//
