LOCUS       NM_001102564             816 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens intraflagellar transport 43 (IFT43), transcript
            variant 2, mRNA.
ACCESSION   NM_001102564
VERSION     NM_001102564.3
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 816)
  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   2  (bases 1 to 816)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 816)
  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 816)
  AUTHORS   Takahara,M., Katoh,Y., Nakamura,K., Hirano,T., Sugawa,M.,
            Tsurumi,Y. and Nakayama,K.
  TITLE     Ciliopathy-associated mutations of IFT122 impair ciliary protein
            trafficking but not ciliogenesis
  JOURNAL   Hum Mol Genet 27 (3), 516-528 (2018)
   PUBMED   29220510
REFERENCE   5  (bases 1 to 816)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 816)
  AUTHORS   Wang,M.X., Itoh,M., Li,S., Hida,Y., Ohta,K., Hayakawa,M.,
            Nishida,E., Ueda,M., Islam,S., Tana and Nakagawa,T.
  TITLE     CED-4 is an mRNA-binding protein that delivers ced-3 mRNA to
            ribosomes
  JOURNAL   Biochem Biophys Res Commun 470 (1), 48-53 (2016)
   PUBMED   26740177
  REMARK    GeneRIF: These results suggest that CED-4 forms a complex with
            ced-3 mRNA and delivers it to ribosomes for translation.
REFERENCE   7  (bases 1 to 816)
  AUTHORS   Cornejo-Garcia,J.A., Liou,L.B., Blanca-Lopez,N., Dona,I.,
            Chen,C.H., Chou,Y.C., Chuang,H.P., Wu,J.Y., Chen,Y.T., Plaza-Seron
            Mdel,C., Mayorga,C., Gueant-Rodriguez,R.M., Lin,S.C., Torres,M.J.,
            Campo,P., Rondon,C., Laguna,J.J., Fernandez,J., Gueant,J.L.,
            Canto,G., Blanca,M. and Lee,M.T.
  TITLE     Genome-wide association study in NSAID-induced acute
            urticaria/angioedema in Spanish and Han Chinese populations
  JOURNAL   Pharmacogenomics 14 (15), 1857-1869 (2013)
   PUBMED   24236485
REFERENCE   8  (bases 1 to 816)
  AUTHORS   Arts,H.H., Bongers,E.M., Mans,D.A., van Beersum,S.E., Oud,M.M.,
            Bolat,E., Spruijt,L., Cornelissen,E.A., Schuurs-Hoeijmakers,J.H.,
            de Leeuw,N., Cormier-Daire,V., Brunner,H.G., Knoers,N.V. and
            Roepman,R.
  TITLE     C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
  JOURNAL   J Med Genet 48 (6), 390-395 (2011)
   PUBMED   21378380
  REMARK    GeneRIF: C14ORF179 encoding IFT43 is mutated in Sensenbrenner
            syndrome.
REFERENCE   9  (bases 1 to 816)
  AUTHORS   Mukhopadhyay,S., Wen,X., Chih,B., Nelson,C.D., Lane,W.S.,
            Scales,S.J. and Jackson,P.K.
  TITLE     TULP3 bridges the IFT-A complex and membrane phosphoinositides to
            promote trafficking of G protein-coupled receptors into primary
            cilia
  JOURNAL   Genes Dev 24 (19), 2180-2193 (2010)
   PUBMED   20889716
REFERENCE   10 (bases 1 to 816)
  AUTHORS   Tan,W., Lin,A. and Keppler-Noreuil,K.
  TITLE     Cranioectodermal Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24027799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF107885.2 and AC008015.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 18, 2020 this sequence version replaced NM_001102564.2.
            
            Summary: This gene encodes a subunit of the intraflagellar
            transport complex A (IFT-A). IFT-A is a multiprotein complex that
            plays an important role in cilia assembly and maintenance by
            mediating retrograde ciliary transport. Mutations in this gene are
            a cause of cranioectodermal dysplasia-3 (CED3), also known as
            Sensenbrenner syndrome. Alternatively spliced transcript variants
            encoding multiple isoforms have been observed for this gene.
            [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (2) lacks an exon and contains two
            alternate exons in the coding region, but maintains the reading
            frame, compared to variant 1. The encoded isoform (2) is shorter
            than isoform 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 :: DR423699.1, CB851159.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314067.11/ ENSP00000324177.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AF107885.2         168244-168321
            79-171              AF107885.2         171366-171458
            172-239             AC008015.5         20900-20967
            240-272             AC008015.5         57215-57247
            273-319             AC008015.5         57900-57946
            320-392             AC008015.5         80868-80940
            393-468             AC008015.5         81190-81265
            469-531             AC008015.5         81800-81862
            532-816             AC008015.5         82031-82315
FEATURES             Location/Qualifiers
     source          1..816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..816
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /note="intraflagellar transport 43"
                     /db_xref="GeneID:112752"
                     /db_xref="HGNC:HGNC:29669"
                     /db_xref="MIM:614068"
     exon            1..78
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..651
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /note="isoform 2 is encoded by transcript variant 2; IFT
                     complex A subunit; intraflagellar transport protein 43
                     homolog; intraflagellar transport 43 homolog"
                     /codon_start=1
                     /product="intraflagellar transport protein 43 homolog
                     isoform 2"
                     /protein_id="NP_001096034.1"
                     /db_xref="CCDS:CCDS41973.1"
                     /db_xref="GeneID:112752"
                     /db_xref="HGNC:HGNC:29669"
                     /db_xref="MIM:614068"
                     /translation="MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSL
                     TLTGETSSAKLPRCRQGGWAGDSVKASKFRRKASEEIEDFRLRPQSLNGSDYGGDIPI
                     IPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKV
                     LAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT"
     exon            79..171
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            172..239
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            240..272
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            273..319
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            320..392
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            393..468
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            469..531
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     exon            532..816
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      794..799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /note="hexamer: AATAAA"
     polyA_site      816
                     /gene="IFT43"
                     /gene_synonym="C14orf179; CED3; RP81; SRTD18"
                     /note="major polyA site"
ORIGIN      
        1 aagtgacgtc aggcggccgc ggagatggag gatttgctcg acttggacga ggagcttcgc
       61 tacagcttgg ctacctccag ggccaagatg ggtcgccgag ctcaacagga gtcagcgcag
      121 gccgagaatc acctcaatgg caagaattcc tctttgactc tgactggaga gacttcctct
      181 gctaaattac ctcgctgccg acagggaggc tgggcaggtg attccgtgaa ggcttcgaag
      241 tttaggagga aggcttctga agaaatagaa gatttccgcc tcagaccaca gagcctgaat
      301 ggatcagatt atggaggaga tattcctatc attccggatc tggaggaagt acaggaagaa
      361 gactttgttt tgcaggtggc agcccctccc agcatccaga taaagcgggt gatgacctac
      421 cgtgacctgg acaatgacct catgaagtac tcagccattc agacactgga tggggagatc
      481 gacctgaaac tcctcaccaa agtgctcgcg ccggagcacg aagtccggga ggatgatgtc
      541 ggctgggact gggaccatct gttcactgag gtgtcctcag aggtcctcac tgagtgggac
      601 ccactgcaga cggagaagga ggaccctgcg gggcaggcca ggcacacctg agcccgtcac
      661 ccatgctcta gacatgaaga aatgcaatga gcttaaagct aaagaagctt gtaagcagct
      721 ccgaattttt acctggaata ttttgtaata aaaatattta tattcagtca accacattgg
      781 ataattcaat tgcaataaat tgcttattct gtgcca
//
