LOCUS       NM_018272               2510 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens dynein axonemal intermediate chain 7 (DNAI7),
            transcript variant 1, mRNA.
ACCESSION   NM_018272
VERSION     NM_018272.5
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 2510)
  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 2510)
  AUTHORS   Eijgelsheim,M., Newton-Cheh,C., Sotoodehnia,N., de Bakker,P.I.,
            Muller,M., Morrison,A.C., Smith,A.V., Isaacs,A., Sanna,S., Dorr,M.,
            Navarro,P., Fuchsberger,C., Nolte,I.M., de Geus,E.J., Estrada,K.,
            Hwang,S.J., Bis,J.C., Ruckert,I.M., Alonso,A., Launer,L.J.,
            Hottenga,J.J., Rivadeneira,F., Noseworthy,P.A., Rice,K.M., Perz,S.,
            Arking,D.E., Spector,T.D., Kors,J.A., Aulchenko,Y.S., Tarasov,K.V.,
            Homuth,G., Wild,S.H., Marroni,F., Gieger,C., Licht,C.M.,
            Prineas,R.J., Hofman,A., Rotter,J.I., Hicks,A.A., Ernst,F.,
            Najjar,S.S., Wright,A.F., Peters,A., Fox,E.R., Oostra,B.A.,
            Kroemer,H.K., Couper,D., Volzke,H., Campbell,H., Meitinger,T.,
            Uda,M., Witteman,J.C., Psaty,B.M., Wichmann,H.E., Harris,T.B.,
            Kaab,S., Siscovick,D.S., Jamshidi,Y., Uitterlinden,A.G.,
            Folsom,A.R., Larson,M.G., Wilson,J.F., Penninx,B.W., Snieder,H.,
            Pramstaller,P.P., van Duijn,C.M., Lakatta,E.G., Felix,S.B.,
            Gudnason,V., Pfeufer,A., Heckbert,S.R., Stricker,B.H.,
            Boerwinkle,E. and O'Donnell,C.J.
  TITLE     Genome-wide association analysis identifies multiple loci related
            to resting heart rate
  JOURNAL   Hum Mol Genet 19 (19), 3885-3894 (2010)
   PUBMED   20639392
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 2510)
  AUTHORS   Kohno,T., Kunitoh,H., Suzuki,K., Yamamoto,S., Kuchiba,A.,
            Matsuno,Y., Yanagitani,N. and Yokota,J.
  TITLE     Association of KRAS polymorphisms with risk for lung adenocarcinoma
            accompanied by atypical adenomatous hyperplasias
  JOURNAL   Carcinogenesis 29 (5), 957-963 (2008)
   PUBMED   18299280
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2510)
  AUTHORS   Manenti,G., Galbiati,F., Pettinicchio,A., Spinola,M., Piconese,S.,
            Leoni,V.P., Conti,B., Ravagnani,F., Incarbone,M., Pastorino,U. and
            Dragani,T.A.
  TITLE     A V141L polymorphism of the human LRMP gene is associated with
            survival of lung cancer patients
  JOURNAL   Carcinogenesis 27 (7), 1386-1390 (2006)
   PUBMED   16410263
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092794.10 and AC023510.16.
            
            On Nov 23, 2018 this sequence version replaced NM_018272.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031047.1, AK093102.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395987.8/ ENSP00000379310.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                AC092794.10        32488-32572
            86-103              AC092794.10        37017-37034
            104-188             AC092794.10        66451-66535
            189-280             AC092794.10        69085-69176
            281-382             AC092794.10        72236-72337
            383-520             AC092794.10        73192-73329
            521-667             AC092794.10        77874-78020
            668-771             AC092794.10        80544-80647
            772-1084            AC092794.10        82971-83283
            1085-1160           AC023510.16        14333-14408
            1161-1321           AC023510.16        15706-15866
            1322-1478           AC023510.16        18318-18474
            1479-1693           AC023510.16        22749-22963
            1694-1861           AC023510.16        25680-25847
            1862-1975           AC023510.16        27379-27492
            1976-2510           AC023510.16        28796-29330
FEATURES             Location/Qualifiers
     source          1..2510
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..2510
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /note="dynein axonemal intermediate chain 7"
                     /db_xref="GeneID:55259"
                     /db_xref="HGNC:HGNC:29599"
                     /db_xref="MIM:616906"
     exon            1..85
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..2251
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /note="isoform a is encoded by transcript variant 1;
                     cancer susceptibility 1; dynein intermediate chain CFAP94,
                     axonemal; protein phosphatase 1 regulatory subunit 54;
                     lung adenoma susceptibility 1-like protein; cancer
                     susceptibility candidate gene 1 protein; protein CASC1;
                     cilia and flagella associated protein 94; cancer
                     susceptibility candidate 1"
                     /codon_start=1
                     /product="dynein axonemal intermediate chain 7 isoform a"
                     /protein_id="NP_060742.4"
                     /db_xref="CCDS:CCDS31759.2"
                     /db_xref="GeneID:55259"
                     /db_xref="HGNC:HGNC:29599"
                     /db_xref="MIM:616906"
                     /translation="MGPKAKKSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEK
                     EEMERLEIQRIEKEKWHRLEAKDLERRNEELEELYLLERCFPEAEKLKQETKLLSQWK
                     HYIQCDGSPDPSVAQEMNTFISLWKEKTNETFEEVIEKSKVVLNLIEKLKFILLETPP
                     CDLQDKNIIQYQESILQLQELLHLKFGVATEILLKQASTLADLDSGNMEKVIKDENVT
                     LYVWANLKKNPRHRSVRFSETQIGFEIPRILATSDIAVRLLHTHYDHVSALHPVSTPS
                     KEYTSAVTELVKDDVKNVEKAISKEVEEESKQQERGSHLIQEEEIKVEEEQGDIEVKM
                     SSAEEESEAIKCEREMKVLSETVSAAQLLLVENSSEKPDFFEDNVVDLCQFTTLGGVY
                     HLDILELPPQCKPVKGWMIVEILKEGLQKYTYPPETTEEFETENAFPPIEVTLEVHEN
                     VIFFEDPVVVRWDAEGKHWRTDGISNVSYKPKERLVTFSLDTFGPVTLIQDAHINMPY
                     QSWELRPLDVNKVLLTVTTVFTEIQIQIKENLCMLSSIKLKDKKHISILEGTWMTPIP
                     FIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMALLSSAFAFGWSKWNLLCN
                     STKVVFKVREHLTEACTENPNWALLMFSGDRAQRLKIKEESEAFSEALKEETEFHSTL
                     YHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS"
     exon            86..103
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            104..188
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            189..280
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            281..382
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            383..520
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            521..667
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            668..771
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            772..1084
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1160
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1321
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1478
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1693
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1861
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1862..1975
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2510
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2358..2363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /note="hexamer: ATTAAA"
     polyA_site      2379
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /note="major polyA site"
     regulatory      2490..2495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
                     /note="hexamer: AATAAA"
     polyA_site      2505
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
     polyA_site      2510
                     /gene="DNAI7"
                     /gene_synonym="CASC1; CFAP94; LAS1; PPP1R54"
ORIGIN      
        1 gtcgtccggg caacccggga gcgtttgtcc acacaatttc tgctccgact ctgcggacta
       61 ctgcagtgga gcttgactct taatgggtcc caaagcaaaa aagtctggca gtaagaaaaa
      121 gaaagtcacc aaagctgaac gattgaagct gctacaagag gaggaggaga gacgactgaa
      181 agaggaagag gaagcccgtt tgaaatatga gaaagaagaa atggaaaggc ttgaaataca
      241 gcgaattgag aaagaaaaat ggcatcgact tgaagcaaaa gatctagaaa ggagaaatga
      301 agaacttgaa gaactttatt tattagagag gtgttttcct gaagcagaga aattgaaaca
      361 ggaaactaaa ttgctttctc agtggaagca ctacattcaa tgtgatggga gtcctgatcc
      421 ttcagtagcc caagaaatga acacgtttat tagtttgtgg aaagagaaaa caaatgagac
      481 ttttgaggaa gtgattgaga agagtaaagt agtgctaaat ttaattgaga aattgaaatt
      541 tattttactg gaaactccac catgtgattt gcaagataaa aatataatac agtaccaaga
      601 atcaatacta caactgcagg agctccttca tcttaaattc ggtgtagcca cagaaatact
      661 tctcaaacaa gctagtactt tggcagatct ggacagtgga aatatggaaa aagtcattaa
      721 agatgaaaat gttactctgt atgtgtgggc aaacctcaag aagaatccaa ggcacagaag
      781 tgttagattc tctgaaacac aaattggatt tgagattcca aggatattag caacaagtga
      841 cattgctgta cgactcctgc atacccacta tgatcatgtt tctgcactgc accctgtttc
      901 aacaccatca aaagaataca cttctgcagt aactgagctt gtcaaagatg atgttaagaa
      961 tgtagaaaaa gcaatcagca aggaggtcga agaagagtcc aaacaacaag aaagagggtc
     1021 tcacttaatt caggaggaag aaataaaagt tgaggaggaa caaggtgata ttgaagtgaa
     1081 aatgagttct gctgaggaag aatctgaagc cataaaatgt gaacgagaga tgaaagtatt
     1141 aagtgaaact gtttcagcag cacagttgtt gctggtagag aattcttctg aaaagccaga
     1201 tttctttgaa gacaatgtgg tggatttatg ccagttcaca actctgggtg gagtatacca
     1261 cttggatatt ttggagcttc ctccacagtg taaaccagtg aagggatgga tgattgtgga
     1321 aatactcaaa gaaggattac agaaatacac atatcctccg gaaactacag aagagtttga
     1381 gacagaaaat gctttcccac ctatagaggt cacacttgag gttcatgaga atgtaatctt
     1441 ttttgaggat cctgtggttg taaggtggga tgctgaaggt aaacattgga gaactgatgg
     1501 catcagcaat gtatcctaca aaccaaaaga aagacttgta acattcagcc tggacacctt
     1561 tggccctgtt accttgattc aagatgctca tattaacatg ccgtaccagt catgggaact
     1621 aagaccactt gatgtaaata aagtactttt aactgtgact acagtattta ctgagattca
     1681 aatacaaatt aaggaaaacc tctgcatgtt atcttcaatc aaactaaaag acaagaaaca
     1741 catctctatt ttggaaggaa cctggatgac tcctattcct ttcattattg ctttgaaaga
     1801 agctggactg aatatctttc ctactagaca ctctcatttt tatgttatta taaacaataa
     1861 ggttcctttg gtagaagtga aagcttatcg acagatggcc ctactaagtt ctgcttttgc
     1921 atttggttgg agcaagtgga acctactatg taattctaca aaagtcgtat ttaaggtgag
     1981 ggaacacctt actgaagcat gtactgagaa tcctaattgg gcccttttaa tgtttagtgg
     2041 tgacagagca caaagactga agatcaagga agagagtgag gcattttctg aagcacttaa
     2101 agaagaaact gagtttcatt ctactttata tcacatggtg aaggattttg cttctgagga
     2161 agcaatggag aaagtcagga gttccaactg tcagtttgtc aactctgtgt gccacatgct
     2221 gctctctacc agattgctca gctactccta acctccactt acaaactgta ttgtaagtat
     2281 gaagaaccaa gcatggtgaa agacaggtat ttctgcaaca caatgtaatg agtgaatgaa
     2341 tacatttcaa atcaactatt aaaaattttc taatctgcat tttctactca agttttattt
     2401 taaaaacagt attttttttt cctttgaata cttggcctgt taagaatttc agctttcact
     2461 ctatgaagat ttaaatgatt ctttatttca ataaacttta acaaacaata
//
