LOCUS       NM_021292               4317 bp    mRNA    linear   ROD 04-AUG-2023
DEFINITION  Mus musculus EvC ciliary complex subunit 1 (Evc), mRNA.
ACCESSION   NM_021292
VERSION     NM_021292.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4317)
  AUTHORS   Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J,
            Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J
            and Moskowitz IP.
  TITLE     Cilia gene mutations cause atrioventricular septal defects by
            multiple mechanisms
  JOURNAL   Hum Mol Genet 25 (14), 3011-3028 (2016)
   PUBMED   27340223
REFERENCE   2  (bases 1 to 4317)
  AUTHORS   Pusapati GV, Hughes CE, Dorn KV, 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   3  (bases 1 to 4317)
  AUTHORS   Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K,
            Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA and
            Peters H.
  TITLE     Evc regulates a symmetrical response to Shh signaling in molar
            development
  JOURNAL   J Dent Res 92 (3), 222-228 (2013)
   PUBMED   23315474
REFERENCE   4  (bases 1 to 4317)
  AUTHORS   Caparros-Martin JA, Valencia M, Reytor E, Pacheco M, Fernandez M,
            Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA and
            Ruiz-Perez VL.
  TITLE     The ciliary Evc/Evc2 complex interacts with Smo and controls
            Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3
            dissociation and Gli3 trafficking in primary cilia
  JOURNAL   Hum Mol Genet 22 (1), 124-139 (2013)
   PUBMED   23026747
REFERENCE   5  (bases 1 to 4317)
  AUTHORS   Yang C, Chen W, Chen Y and Jiang J.
  TITLE     Smoothened transduces Hedgehog signal by forming a complex with
            Evc/Evc2
  JOURNAL   Cell Res 22 (11), 1593-1604 (2012)
   PUBMED   22986504
  REMARK    GeneRIF: it is proposed that Hedgehog activates Smo by inducing its
            phosphorylation, which recruits Evc/Evc2 to activate Gli proteins
            by antagonizing Sufu in the primary cilia
REFERENCE   6  (bases 1 to 4317)
  AUTHORS   Sund KL, Roelker S, Ramachandran V, Durbin L and Benson DW.
  TITLE     Analysis of Ellis van Creveld syndrome gene products: implications
            for cardiovascular development and disease
  JOURNAL   Hum Mol Genet 18 (10), 1813-1824 (2009)
   PUBMED   19251731
  REMARK    GeneRIF: EVC and LBN protein colocalize at the tip of the primary
            atrial septum during murine cardiac development.
REFERENCE   7  (bases 1 to 4317)
  AUTHORS   Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A,
            Liu YN, Miles C, Peters H and Goodship JA.
  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
  REMARK    GeneRIF: Evc is an intracellular component of the hedgehog signal
            transduction pathway that is required for normal transcriptional
            activation of Ihh target genes.
REFERENCE   8  (bases 1 to 4317)
  AUTHORS   Hurle B, Lane K, Kenney J, Tarantino LM, Bucan M, Brownstein BH and
            Ornitz DM.
  TITLE     Physical mapping of the mouse tilted locus identifies an
            association between human deafness loci DFNA6/14 and vestibular
            system development
  JOURNAL   Genomics 77 (3), 189-199 (2001)
   PUBMED   11597144
REFERENCE   9  (bases 1 to 4317)
  AUTHORS   .
  TITLE     Correction to 'NPHS2, encoding the glomerular protein podocin, is
            mutated in autosomal recessive steroid-resistant nephrotic
            syndrome'
  JOURNAL   Nat Genet 25 (1), 125 (2000)
   PUBMED   10802674
REFERENCE   10 (bases 1 to 4317)
  AUTHORS   Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King
            L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola
            B, Wright M, Meitinger T, Polymeropoulos MH 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
            BY242128.1, AK039759.1, AJ250841.1 and AA423362.1.
            
            [WARNING] On Nov 22, 2023 this sequence was replaced by
            NM_021292.3.
            
            On Nov 21, 2009 this sequence version replaced NM_021292.1.
            
            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 :: AJ250841.1, AK148262.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               BY242128.1         1-271
            272-2492            AK039759.1         242-2462
            2493-2857           AK039759.1         2464-2828
            2858-4310           AJ250841.1         2838-4290
            4311-4317           AA423362.1         459-465
FEATURES             Location/Qualifiers
     source          1..4317
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 20.06 cM"
     gene            1..4317
                     /gene="Evc"
                     /note="EvC ciliary complex subunit 1"
                     /db_xref="GeneID:59056"
                     /db_xref="MGI:MGI:1890596"
     exon            1..247
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..3106
                     /gene="Evc"
                     /note="EvC protein (Ellis-van Creveld syndrome); ellis-van
                     Creveld syndrome protein homolog; Ellis van Creveld gene
                     homolog; Ellis van Creveld gene syndrome"
                     /codon_start=1
                     /product="evC complex member EVC"
                     /protein_id="NP_067267.2"
                     /db_xref="CCDS:CCDS19247.1"
                     /db_xref="GeneID:59056"
                     /db_xref="MGI:MGI:1890596"
                     /translation="MTCTKDARLQLGREALQAAPTLLVPAVLLGGVLGLGLGLWLGCR
                     ASHLRARLQKDDRKRLLGSSEPPAQSLRDTGSQAKARRRQRETTRDEDAPEVCEPSLS
                     GNITAFALKARVVYPINQKFRPLADGSSHPSLHENLTQAAAILPHLPHQPAEASPASS
                     LGSLSQAGKEDGSSSSSMRSTYSDDRILQCAFLRVGSFPEILACESVDIDLCVCSLHL
                     KDLLQVDTALRQEKHLMFIQILKACLLDFFPKKKPDDELCQKVLSKQEHDLEELEKGL
                     QARLANTEMLGTGDSGYVSLADVERKERELSEQLIDNMGAFWKQMESIQPTLMDQFKC
                     SSSKARQFMMTLTGRMIVAEGLLHDSQDLHVLDTLERTMGRSHLARMVEFLRTQIQEE
                     TKCRLAAISRGLELLTVQGQLSGRQKEELLTQQHKAFWEEAERFGREFTQRGKDLVQA
                     SQARQAEAAAELTQTQEEERRSFLADSQLTSDPGEFLKAFHEVLERQRLTRSDQEGDE
                     DTRITEAMAALCQELYCSTMGTFQKFVDSLFLKTLPEVTSLPVAECETLRQQVQEQAA
                     RQLGQADRFRRRQWGLLCDLLEQDKRVWLEEGTLSTVLQRQLRDHHESTIHGVLSRFS
                     GLSEESSRGILQGHELLLCSALRRLALRGTTITALAQMRLSGKKRLLQELHEQLALEQ
                     GVSPCLEEHQWQLLRALEARIQEEAARLEDEAQQTGLRLQQQLLAEAQEAGRLLQLHM
                     ERVIGQALLVHARNVASKGRTREKEDFKRTLVETVVESVYVTSTSVNRLVQAHYQAVG
                     KLLQAHEEQLLQRLKTLQGERINAYKLWKKQEFSDPSLESQTADGTHGASQGVQQRML
                     SQQKRLLDQFTKHQQGRLNSQRQKAQELDQLQAQLETQLQEAEQTLISELSTLARVPL
                     PENKPFSNKRGLPEKPVRTKRKKPPPREREDLGTPNDDHLALADHTTGPLSTTYSASP
                     PIRVHSGGRLDQQDSEAGDGESTSKILQKGSNL"
     exon            248..373
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            374..457
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            458..705
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            706..790
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            791..889
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1027
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1186
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..1403
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1552
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1651
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..1864
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..1974
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            1975..2185
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2186..2392
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2393..2537
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..2649
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2650..2776
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2777..2870
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2871..2982
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
     exon            2983..4312
                     /gene="Evc"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tccctcggct cgggtgcagc gggaaagggt acagaggcgc ggacctggcc ggcggcggga
       61 tgcagcgggt cacccgcctg agccctccat gacctgcact aaagatgcgc ggctgcagct
      121 gggccgggaa gccctgcagg cggcgccgac gctgctggtc cccgcggtgc tactgggtgg
      181 cgttctcggc ctaggccttg gcttgtggct tggctgtcgc gcgagccact tgcgcgcacg
      241 gctccagaaa gatgacagga aacgtctgct cgggagttca gagccccctg cacagagcct
      301 acgggacact ggctctcaag ccaaagccag gaggcgccag agagaaacca ctcgggatga
      361 agacgcccct gaggtgtgtg agccatcctt gagtggcaac atcacggcat ttgcactgaa
      421 agccagagtt gtctatccca tcaaccagaa gttccggcct ctggccgacg gatcctccca
      481 cccatcgctg catgaaaacc tgacacaggc agcggccatc ctgccccacc tgccccacca
      541 gccagcagag gcctcaccag ccagcagcct gggcagcctg agccaggctg gcaaggagga
      601 cggcagctcc tcctccagca tgcggtcaac ctacagcgac gaccggatcc tccagtgtgc
      661 ctttctccgg gtgggcagct tccctgagat cctggcctgt gagagtgtgg acattgacct
      721 gtgtgtctgc agccttcacc tgaaagacct gcttcaggta gacacggcgc tgaggcaaga
      781 gaagcacctg atgttcattc agattcttaa agcatgcctc ctggattttt ttcctaaaaa
      841 gaagcctgat gatgaattat gccagaaggt tctttccaaa caagagcatg atttggagga
      901 attagaaaag ggactccagg ccagattggc gaacacagaa atgttaggca ctggcgactc
      961 tggctacgtt tccctggcag atgtggagag gaaggagaga gagctctcag agcagctcat
     1021 agacaacatg ggagctttct ggaagcagat ggaaagcatc cagcccactc tcatggacca
     1081 gtttaagtgt tccagctcca aagctcggca gttcatgatg actctgacag gaagaatgat
     1141 tgtcgctgaa ggactgctgc atgactctca ggacctgcat gtcctggaca ccctggagag
     1201 gacaatgggt cgatcccact tggcaagaat ggtggagttc ctgagaaccc agatccagga
     1261 ggagaccaag tgcagacttg ctgccatctc ccgtggcctg gagttgctga ctgtccaggg
     1321 gcagctgtct gggaggcaaa aggaggaact cctgactcag cagcacaagg ccttctggga
     1381 ggaggcagag cgttttggca gggaattcac gcagcggggc aaagatctgg tccaggcgtc
     1441 tcaggctcgc caggcagagg cagcagcaga gctcacacag acccaagaag aagaacggag
     1501 gagtttcctg gctgattccc agctgacctc ggatcctggg gaattcctca aggcttttca
     1561 tgaggtcctg gagaggcagc ggctgacaag gagtgaccaa gagggagacg aggacacccg
     1621 aatcactgag gccatggctg cgctctgcca ggagctgtac tgtagcacca tgggaacctt
     1681 ccaaaagttt gtggactccc tgttcctgaa gaccctccca gaagtgacca gcctccctgt
     1741 ggcagaatgt gagaccctgc ggcagcaggt ccaggagcag gcagcaaggc agctgggaca
     1801 ggcagaccga ttccgcagac gacagtgggg actcctatgt gatctattgg agcaggacaa
     1861 acgggtgtgg ctggaggagg gtacgctgtc cacggtgctg cagaggcagc tgcgggatca
     1921 ccacgagagc accatccacg gcgtcctgag cagattcagt ggcctttctg aagagtcctc
     1981 acgaggcatc ctgcagggcc acgaactgct gctgtgctct gctctgcgca gactggccct
     2041 ccgaggcacc accatcactg ccctggctca gatgaggctg tctgggaaga agaggctcct
     2101 gcaggagcta catgagcagc tggcattaga gcagggtgtg tccccatgcc tggaggagca
     2161 tcaatggcag ctgcttagag ccctggaggc gcggatccag gaggaggcag ccaggttgga
     2221 ggatgaggca cagcagacag gtctgcggct ccagcagcag ctgctggcgg aggcacagga
     2281 ggcagggcgg ctgctacagc tgcacatgga gcgggtcatt gggcaggcgc tgctggtaca
     2341 tgctaggaat gttgccagca aaggccggac cagggagaag gaagacttca agaggacgct
     2401 ggtagagacg gtggtggaga gtgtgtatgt gaccagcact agtgtcaacc gcctcgtgca
     2461 ggcgcattac caggccgtcg ggaagctcct gcaggctcat gaggaacaat tgctgcagcg
     2521 cctaaagacc ctgcagggag agagaatcaa tgcttacaag ctgtggaaga agcaagaatt
     2581 cagtgacccg tcgttggaga gtcaaacagc ggatggtacc catggagctt cccagggggt
     2641 acagcagagg atgctttcgc agcagaagag gctcctggac cagttcacga agcatcagca
     2701 aggccgcctg aactctcaga ggcagaaggc acaagagctg gaccagctgc aagcccagct
     2761 tgagacccag ctgcaggaag ctgagcagac ccttatctca gagctatcga cattggcccg
     2821 agtacccctt cctgagaaca agccattctc caacaagcga ggacttccag aaaagccagt
     2881 aagaaccaaa aggaagaaac ccccacctcg ggagagagag gacctgggga caccaaacga
     2941 tgaccacctt gccttggccg accacaccac aggaccactc agtacaacct actcagcatc
     3001 gcctcccatc cgtgtccaca gcggcggaag gctggatcag caggacagcg aagctggcga
     3061 tggagaaagc acaagcaaga tactgcagaa aggaagcaat ctgtagctcc agctgagatg
     3121 ggtctgcacg cacctcactt cctcttggga ccgggggaca gaagaaaagg ccagtcttga
     3181 gagaggggat gccacctgcc ttagagagcg agacaatagc atcaagtgcc tgggatcatt
     3241 ggagatggtg gggacatgcc ttgagaatgt aacatctcca ctgtcacctc tttttggtcc
     3301 tcttgccttg gtctcttgct ccctcagaac ggccctctta cccacaccct ccagtttcac
     3361 acagtatctt gatgctgtct agcagtctga ttggagattg aagacccctg attccagcat
     3421 gcatgaagtt ctgcccatct gggtcttagc atcactggta ttttcctggc ctgaggccac
     3481 tggttcacct ccactgctcc acagtcatct cctgtccctg gttctggctg tcagggtccc
     3541 aaccaggacc aacttttggc cttggtattt ctatctgttg gctctgatag aaggatgtgt
     3601 gagtcccaag gccaatgttc ttggcatagc catggagttc ccctggctat gttctgaacc
     3661 actcagaaca tggggaccac acttgcctgt cacataccac aagaggtcct ctgtgggcag
     3721 ggagggcata gaaggatgct gttcctacca tcaggcttca ctgaggagag gaaactttca
     3781 tctgaggaga tgcccacagg tcacctgccc cttctgaggg atgataaggg cttccgtaag
     3841 ctttcaaacc agccgtactt ccataggcca gagatcattc ccactcaggc tatctcttcc
     3901 aggagcagca tcaaggattc cccgtcatca ctgtcaacat ttgggtatga tcactcattg
     3961 ttcaggtgtg aacgttgctg atggcaagga tggagtctat catgtcagag gcagacccat
     4021 ttggagatgg gaggttgtag gtggcacaca ctgtttcact tgagatgaga gctgtcactc
     4081 agtgaaaaca caccttcagg ttagctgttc ttaggaaaca cctctcgagg aacaccatcg
     4141 tgtctaggag tgacgtttga ggcttttgag agctcctgac taaggacttg gctggggcag
     4201 caaccaactt tccttcttcc tcccctactt ccatccccca gcctcctgtg ccttaacctc
     4261 ctgcacgtga gccaaccctg gctcagcctg aataaagagt tctactccag gaaaaaa
//
