LOCUS       NM_001018116            3098 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens caveolae associated protein 4 (CAVIN4), mRNA.
ACCESSION   NM_001018116 XM_294592
VERSION     NM_001018116.2
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 3098)
  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   2  (bases 1 to 3098)
  AUTHORS   Naito,D., Ogata,T., Hamaoka,T., Nakanishi,N., Miyagawa,K.,
            Maruyama,N., Kasahara,T., Taniguchi,T., Nishi,M., Matoba,S. and
            Ueyama,T.
  TITLE     The coiled-coil domain of MURC/cavin-4 is involved in membrane
            trafficking of caveolin-3 in cardiomyocytes
  JOURNAL   Am J Physiol Heart Circ Physiol 309 (12), H2127-H2136 (2015)
   PUBMED   26497963
REFERENCE   3  (bases 1 to 3098)
  AUTHORS   Faggi,F., Codenotti,S., Poliani,P.L., Cominelli,M., Chiarelli,N.,
            Colombi,M., Vezzoli,M., Monti,E., Bono,F., Tulipano,G.,
            Fiorentini,C., Zanola,A., Lo,H.P., Parton,R.G., Keller,C. and
            Fanzani,A.
  TITLE     MURC/cavin-4 Is Co-Expressed with Caveolin-3 in Rhabdomyosarcoma
            Tumors and Its Silencing Prevents Myogenic Differentiation in the
            Human Embryonal RD Cell Line
  JOURNAL   PLoS One 10 (6), e0130287 (2015)
   PUBMED   26086601
  REMARK    GeneRIF: MURC/cavin-4, especially in combination with Cav-3, may
            play a consistent role in the differentiation process of
            rhabdomyosarcoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3098)
  AUTHORS   Chouraki,V., De Bruijn,R.F., Chapuis,J., Bis,J.C., Reitz,C.,
            Schraen,S., Ibrahim-Verbaas,C.A., Grenier-Boley,B., Delay,C.,
            Rogers,R., Demiautte,F., Mounier,A., Fitzpatrick,A.L., Berr,C.,
            Dartigues,J.F., Uitterlinden,A.G., Hofman,A., Breteler,M.,
            Becker,J.T., Lathrop,M., Schupf,N., Alperovitch,A., Mayeux,R., van
            Duijn,C.M., Buee,L., Amouyel,P., Lopez,O.L., Ikram,M.A., Tzourio,C.
            and Lambert,J.C.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     A genome-wide association meta-analysis of plasma Abeta peptides
            concentrations in the elderly
  JOURNAL   Mol Psychiatry 19 (12), 1326-1335 (2014)
   PUBMED   24535457
REFERENCE   5  (bases 1 to 3098)
  AUTHORS   Ogata,T., Naito,D., Nakanishi,N., Hayashi,Y.K., Taniguchi,T.,
            Miyagawa,K., Hamaoka,T., Maruyama,N., Matoba,S., Ikeda,K.,
            Yamada,H., Oh,H. and Ueyama,T.
  TITLE     MURC/Cavin-4 facilitates recruitment of ERK to caveolae and
            concentric cardiac hypertrophy induced by alpha1-adrenergic
            receptors
  JOURNAL   Proc Natl Acad Sci U S A 111 (10), 3811-3816 (2014)
   PUBMED   24567387
REFERENCE   6  (bases 1 to 3098)
  AUTHORS   Rodriguez,G., Ueyama,T., Ogata,T., Czernuszewicz,G., Tan,Y.,
            Dorn,G.W. 2nd, Bogaev,R., Amano,K., Oh,H., Matsubara,H.,
            Willerson,J.T. and Marian,A.J.
  TITLE     Molecular genetic and functional characterization implicate
            muscle-restricted coiled-coil gene (MURC) as a causal gene for
            familial dilated cardiomyopathy
  JOURNAL   Circ Cardiovasc Genet 4 (4), 349-358 (2011)
   PUBMED   21642240
  REMARK    GeneRIF: MURC mutations impart loss-of-function effects on MURC
            functions and probably are causal variants in human dilated
            cardiomyopathy
REFERENCE   7  (bases 1 to 3098)
  AUTHORS   Hansen,C.G., Bright,N.A., Howard,G. and Nichols,B.J.
  TITLE     SDPR induces membrane curvature and functions in the formation of
            caveolae
  JOURNAL   Nat Cell Biol 11 (7), 807-814 (2009)
   PUBMED   19525939
REFERENCE   8  (bases 1 to 3098)
  AUTHORS   Bastiani,M., Liu,L., Hill,M.M., Jedrychowski,M.P., Nixon,S.J.,
            Lo,H.P., Abankwa,D., Luetterforst,R., Fernandez-Rojo,M.,
            Breen,M.R., Gygi,S.P., Vinten,J., Walser,P.J., North,K.N.,
            Hancock,J.F., Pilch,P.F. and Parton,R.G.
  TITLE     MURC/Cavin-4 and cavin family members form tissue-specific caveolar
            complexes
  JOURNAL   J Cell Biol 185 (7), 1259-1273 (2009)
   PUBMED   19546242
REFERENCE   9  (bases 1 to 3098)
  AUTHORS   Tagawa,M., Ueyama,T., Ogata,T., Takehara,N., Nakajima,N.,
            Isodono,K., Asada,S., Takahashi,T., Matsubara,H. and Oh,H.
  TITLE     MURC, a muscle-restricted coiled-coil protein, is involved in the
            regulation of skeletal myogenesis
  JOURNAL   Am J Physiol Cell Physiol 295 (2), C490-C498 (2008)
   PUBMED   18508909
REFERENCE   10 (bases 1 to 3098)
  AUTHORS   Ogata,T., Ueyama,T., Isodono,K., Tagawa,M., Takehara,N.,
            Kawashima,T., Harada,K., Takahashi,T., Shioi,T., Matsubara,H. and
            Oh,H.
  TITLE     MURC, a muscle-restricted coiled-coil protein that modulates the
            Rho/ROCK pathway, induces cardiac dysfunction and conduction
            disturbance
  JOURNAL   Mol Cell Biol 28 (10), 3424-3436 (2008)
   PUBMED   18332105
  REMARK    GeneRIF: MURC modulates RhoA signaling, and MURC plays an important
            role in the development of cardiac dysfunction and conduction
            disturbance with increased vulnerability to atrial arrhythmias.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300099.1, BC090888.1,
            EU487253.1, AL354917.8 and AA446953.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 26, 2013 this sequence version replaced NM_001018116.1.
            
            Summary: This gene encodes a protein containing two coiled-coil
            regions. The encoded protein promotes Rho/ROCK (Rho-kinase)
            signaling in cardiac muscles cells, and may facilitate myofibrillar
            organization. [provided by RefSeq, Jun 2013].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on 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 :: AK300099.1, BC090888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307584.6/ ENSP00000418668.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                AK300099.1         1-83
            84-661              BC090888.1         1-578
            662-1160            EU487253.1         597-1095
            1161-2609           AL354917.8         95939-97387
            2610-3098           AA446953.1         1-489               c
FEATURES             Location/Qualifiers
     source          1..3098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..3098
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="caveolae associated protein 4"
                     /db_xref="GeneID:347273"
                     /db_xref="HGNC:HGNC:33742"
                     /db_xref="MIM:617714"
     exon            1..473
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1160
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="muscle-restricted coiled-coil protein; muscle
                     related coiled-coil protein"
                     /codon_start=1
                     /product="caveolae-associated protein 4"
                     /protein_id="NP_001018126.1"
                     /db_xref="CCDS:CCDS35083.1"
                     /db_xref="GeneID:347273"
                     /db_xref="HGNC:HGNC:33742"
                     /db_xref="MIM:617714"
                     /translation="MEHNGSASNADKIHQNRLSSVTEDEDQDAALTIVTVLDKVASIV
                     DSVQASQKRIEERHREMENAIKSVQIDLLKLSQSHSNTGHIINKLFEKTRKVSAHIKD
                     VKARVEKQQIHVKKVEVKQEEIMKKNKFRVVIFQEKFRCPTSLSVVKDRNLTENQEED
                     DDDIFDPPVDLSSDEEYYVEESRSARLRKSGKEHIDNIKKAFSKENMQKTRQNLDKKV
                     NRIRTRIVTPERRERLRQSGERLRQSGERLRQSGERFKKSISNAAPSKEAFKMRSLRK
                     GKDRTVAEGEECAREMGVDIIARSESLGPISELYSDELSEPEHEAARPVYPPHEGREI
                     PTPEPLKVTFKSQVKVEDDESLLLDLKHSS"
     exon            474..3098
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1299..1304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="hexamer: TATAAA"
     polyA_site      1320
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
     regulatory      3077..3082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="hexamer: AATAAA"
     polyA_site      3098
                     /gene="CAVIN4"
                     /gene_synonym="cavin-4; MURC"
                     /note="major polyA site"
ORIGIN      
        1 gactttttgc tccaagtgcc agaattgatt gtggttagga catcttacgc tgagaaataa
       61 ataaaatgga acataatggg tctgcttcaa atgctgataa aatccaccag aatcgcctgt
      121 cgagtgttac agaagatgaa gaccaagacg ctgctcttac cattgtgact gtgctggaca
      181 aagtagcctc catcgtggac agtgtgcagg caagccagaa gagaatagaa gagagacaca
      241 gggaaatgga aaatgccata aaatccgtcc agattgacct gttgaagctt tcacagtcgc
      301 atagcaatac agggcatatc attaacaaat tgtttgagaa aacccgaaaa gttagtgctc
      361 acattaaaga tgtgaaagcc cgggtggaga agcaacaaat tcatgttaaa aaagttgaag
      421 tcaagcaaga ggaaataatg aagaaaaaca aattccgcgt ggtaatattc caggagaagt
      481 ttcggtgtcc gacatccctg tctgttgtta aagacagaaa cctaactgag aaccaagaag
      541 aggatgatga tgatatcttt gatcccccag tagatctgtc ttcggatgaa gaatattatg
      601 ttgaagaaag cagatctgcc aggcttagga agtcaggcaa ggagcacatt gataatatca
      661 agaaggcatt ttccaaagaa aacatgcaga agacacggca gaatcttgac aagaaagtga
      721 acagaattag aactagaata gtgaccccgg agaggagaga gaggctaagg cagtcaggag
      781 agaggctgag acagtcaggg gagaggctga gacagtcagg ggagaggttt aagaaatcta
      841 tttctaatgc agctccctca aaggaagctt ttaagatgcg cagcctcagg aaaggtaagg
      901 accgaacagt ggctgaaggt gaggaatgtg ccagggagat gggtgtggac atcattgcca
      961 ggagcgagtc tctgggcccc atcagtgagc tctactctga tgagctcagt gaaccagaac
     1021 acgaggcagc caggccggtg tatcctcccc atgaaggaag ggaaatcccc acccccgagc
     1081 ctttaaaagt tacttttaaa tctcaggtga aagtagagga tgatgaatct cttttgttag
     1141 atttaaagca ctcatcgtaa agaggaatta agtatatcct aaatatgaat ctcctaatca
     1201 tgcagtttta gtttgaatag tgtagtcgtc tacatttctg tgccatgtag gaaaacataa
     1261 atgtattttt tttcttatat ttaaaatctt gaagataata taaatattat tatcactctt
     1321 tctcatggca gctgtggatt ttttagttcc tttctcttgt ccaccagaaa aatagtttcc
     1381 taggttgggc cagttacgtg tttggtaagg gcaactttgc ggccgtcatt tgcaggagaa
     1441 ctctaaatat tggttaggat taatattgtg gccagcctca aaggggaata actcatgtgt
     1501 gggttatatc gtccagatgt tcagatcaac agatttgtta gtaaattagc agtcacaccc
     1561 cttttttgat gctttcacat taaaaaattg aagttttgga cttgagcatt tggctctagt
     1621 atcatagctt tacttataag aaaaccctgg gcaagtcatc tgcttattct catcagtaaa
     1681 aatggagagg gttggcctct gctgcctgcc tcagaggact gttgtgatga tcaaaggaaa
     1741 tggtacacat tctgggggaa caagaagcac acccagagaa aacaagcctc atcagttcct
     1801 ccaaaacaga atggaaagag ttacaccttc tgaaaaagcc ctcagcacca atcaataagg
     1861 tcctaggttg gagagaaact aaagctggtc ttcagaagcc ttttcacaga atcaagagtg
     1921 aaaaataagt aaatgtttgg gtgaccactt tttcatcaga ctaactatat cttgggtttt
     1981 agttgggtct caaaatgttc cccagccaga ccctttctaa tttccttttg attaagatct
     2041 ttggtggact atagcactaa atttgtttaa gcagtatgag gcataaaatt gtgactatgt
     2101 ttctaaagtc ggccctgatg cattgggttt ggaaatgacc acaaatattc ctgttttcct
     2161 gagtgtaccc ttcagggtcc agctgtccaa aacagtgttg ataggagttc atcatagctg
     2221 ctttgggagg aagccagatt ctccttatct tttagcttta gatcgtggaa tccaggaagt
     2281 agaacaatgt ctattgttgc taaagaaaga aagaaatggg ccgggtgtgg tggctcacgg
     2341 ggagtaatcc cagcactttg cgaggccgag gtgggtgaat cacctgaggt cagaagttca
     2401 cgaccagcct gaccaacatg gcgaaaccct gactctactg aaaatacaaa aattagctgg
     2461 gcatggtggc atgcgcctgt cccagctact caggaggctg agacaggaga attgcctgaa
     2521 cccaggaggc ggaggttgca gtgagccgag attgtgccac tgcactcaag cctgggcaaa
     2581 agagccagac tctgtttcaa aaaaaaagaa aaaaagaaaa gaaagaaatg gtagtactga
     2641 ttctgtactt gaaggatgtt taatgtagca tggtgttgta atagagaaga aatgatgaaa
     2701 ttgttgaatt tgaagagttg ggacaacgat cagctatccc actttttttc tcactttcag
     2761 atcagttttt ggataatcat atggtagtta aaataataag tgtacacata tacacacagg
     2821 catacataaa tcggctttaa aatatttgac tcagttactc agatgtttgg gtttgggagt
     2881 ctgattcagc atcatttcct cttcaccttg catgaataca tgaaatcata atatcgttca
     2941 tgttgttacc tttttatatt gaaaactaaa gtgtatacaa cattggataa cactttcaaa
     3001 tgaataattt taaaatgttt ttatgacatt ttggaaagat cttgggtgcc taatcacata
     3061 ttttcttaag aaccataata aatttgaatt taagaaaa
//
