LOCUS       NM_006531               2850 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens intraflagellar transport 88 (IFT88), transcript
            variant 2, mRNA.
ACCESSION   NM_006531
VERSION     NM_006531.5
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 2850)
  AUTHORS   Thuy,P.X., Jang,T.K. and Moon,E.Y.
  TITLE     Vinblastine Resistance Is Associated with Nephronophthisis
            3-Mediated Primary Cilia via Intraflagellar Transport Protein 88
            and Apoptosis-Antagonizing Transcription Factor
  JOURNAL   Int J Mol Sci 25 (19), 10369 (2024)
   PUBMED   39408701
  REMARK    GeneRIF: Vinblastine Resistance Is Associated with Nephronophthisis
            3-Mediated Primary Cilia via Intraflagellar Transport Protein 88
            and Apoptosis-Antagonizing Transcription Factor.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2850)
  AUTHORS   Odabasi,E., Conkar,D., Deretic,J., Batman,U., Frikstad,K.M.,
            Patzke,S. and Firat-Karalar,E.N.
  TITLE     CCDC66 regulates primary cilium length and signaling via
            interactions with transition zone and axonemal proteins
  JOURNAL   J Cell Sci 136 (3) (2023)
   PUBMED   36606424
REFERENCE   3  (bases 1 to 2850)
  AUTHORS   Chan,H.Y.E. and Chen,Z.S.
  TITLE     Multifaceted investigation underlies diverse mechanisms
            contributing to the downregulation of Hedgehog pathway-associated
            genes INTU and IFT88 in lung adenocarcinoma and uterine corpus
            endometrial carcinoma
  JOURNAL   Aging (Albany NY) 14 (19), 7794-7823 (2022)
   PUBMED   36084949
  REMARK    GeneRIF: Multifaceted investigation underlies diverse mechanisms
            contributing to the downregulation of Hedgehog pathway-associated
            genes INTU and IFT88 in lung adenocarcinoma and uterine corpus
            endometrial carcinoma.
REFERENCE   4  (bases 1 to 2850)
  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   5  (bases 1 to 2850)
  AUTHORS   Stevens,E.M., Vladar,E.K., Alanin,M.C., Christensen,S.T., von
            Buchwald,C. and Milla,C.
  TITLE     Ciliary Localization of the Intraflagellar Transport Protein IFT88
            Is Disrupted in Cystic Fibrosis
  JOURNAL   Am J Respir Cell Mol Biol 62 (1), 120-123 (2020)
   PUBMED   31891309
  REMARK    GeneRIF: The Intraflagellar Transport Protein IFT88 Is Disrupted in
            Cystic Fibrosis.
REFERENCE   6  (bases 1 to 2850)
  AUTHORS   Khanna,H., Hurd,T.W., Lillo,C., Shu,X., Parapuram,S.K., He,S.,
            Akimoto,M., Wright,A.F., Margolis,B., Williams,D.S. and Swaroop,A.
  TITLE     RPGR-ORF15, which is mutated in retinitis pigmentosa, associates
            with SMC1, SMC3, and microtubule transport proteins
  JOURNAL   J Biol Chem 280 (39), 33580-33587 (2005)
   PUBMED   16043481
REFERENCE   7  (bases 1 to 2850)
  AUTHORS   Lehner,B., Semple,J.I., Brown,S.E., Counsell,D., Campbell,R.D. and
            Sanderson,C.M.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   8  (bases 1 to 2850)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (bases 1 to 2850)
  AUTHORS   Murcia,N.S., Sweeney,W.E. Jr. and Avner,E.D.
  TITLE     New insights into the molecular pathophysiology of polycystic
            kidney disease
  JOURNAL   Kidney Int 55 (4), 1187-1197 (1999)
   PUBMED   10200981
  REMARK    Review article
REFERENCE   10 (bases 1 to 2850)
  AUTHORS   Schrick,J.J., Onuchic,L.F., Reeders,S.T., Korenberg,J., Chen,X.N.,
            Moyer,J.H., Wilkinson,J.E. and Woychik,R.P.
  TITLE     Characterization of the human homologue of the mouse Tg737
            candidate polycystic kidney disease gene
  JOURNAL   Hum Mol Genet 4 (4), 559-567 (1995)
   PUBMED   7633404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK126668.1, AK308281.1,
            AK310223.1, BC059357.1, BG182322.1 and AL161772.17.
            
            On Jun 2, 2019 this sequence version replaced NM_006531.4.
            
            Summary: This gene encodes a member of the tetratrico peptide
            repeat (TPR) family. The encoded protein is involved in cilium
            biogenesis. Mutations of a similar gene in mouse can cause
            polycystic kidney disease. Several transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) lacks multiple alternate exons
            in the 5' UTR and lacks a portion of the 5' coding region, compared
            to variant 1. These differences cause translation initiation at a
            downstream AUG and result in an isoform (2) with a shorter
            N-terminus, compared to isoform 1. Variants 2 and 9 both encode the
            same isoform (2).
            
            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 :: SRR1803612.137465.1,
                                           SRR1660805.219090.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351808.10/ ENSP00000261632.5
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AK126668.1         712-715
            5-222               AK308281.1         1-218
            223-223             AK310223.1         449-449
            224-1442            AK308281.1         220-1438
            1443-1443           BC059357.1         1758-1758
            1444-1695           AK308281.1         1440-1691
            1696-2767           BC059357.1         2011-3082
            2768-2843           BG182322.1         422-497
            2844-2850           AL161772.17        103961-103967
FEATURES             Location/Qualifiers
     source          1..2850
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..2850
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /note="intraflagellar transport 88"
                     /db_xref="GeneID:8100"
                     /db_xref="HGNC:HGNC:20606"
                     /db_xref="MIM:600595"
     exon            1..100
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            101..196
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..2581
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /note="isoform 2 is encoded by transcript variant 2;
                     polaris homolog; tetratricopeptide repeat domain 10; TPR
                     repeat protein 10; recessive polycystic kidney disease
                     protein Tg737 homolog; probe hTg737 (polycystic kidney
                     disease, autosomal recessive); intraflagellar transport
                     protein 88 homolog; intraflagellar transport 88 homolog;
                     tetratricopeptide repeat protein 10; testicular tissue
                     protein Li 93"
                     /codon_start=1
                     /product="intraflagellar transport protein 88 homolog
                     isoform 2"
                     /protein_id="NP_006522.2"
                     /db_xref="CCDS:CCDS31945.1"
                     /db_xref="GeneID:8100"
                     /db_xref="HGNC:HGNC:20606"
                     /db_xref="MIM:600595"
                     /translation="MMQNVHLAPETDEDDLYSGYNDYNPIYDIEELENDAAFQQAVRT
                     SHGRRPPITAKISSTAVTRPIATGYGSKTSLASSIGRPMTGAIQDGVTRPMTAVRAAG
                     FTKAALRGSAFDPLSQSRGPASPLEAKKKDSPEEKIKQLEKEVNELVEESCIANSCGD
                     LKLALEKAKDAGRKERVLVRQREQVTTPENINLDLTYSVLFNLASQYSVNEMYAEALN
                     TYQVIVKNKMFSNAGILKMNMGNIYLKQRNYSKAIKFYRMALDQVPSVNKQMRIKIMQ
                     NIGVTFIQAGQYSDAINSYEHIMSMAPNLKAGYNLTICYFAIGDREKMKKAFQKLITV
                     PLEIDEDKYISPSDDPHTNLVTEAIKNDHLRQMERERKAMAEKYIMTSAKLIAPVIET
                     SFAAGYDWCVEVVKASQYVELANDLEINKAVTYLRQKDYNQAVEILKVLEKKDSRVKS
                     AAATNLSALYYMGKDFAQASSYADIAVNSDRYNPAALTNKGNTVFANGDYEKAAEFYK
                     EALRNDSSCTEALYNIGLTYEKLNRLDEALDCFLKLHAILRNSAEVLYQIANIYELME
                     NPSQAIEWLMQVVSVIPTDPQVLSKLGELYDREGDKSQAFQYYYESYRYFPCNIEVIE
                     WLGAYYIDTQFWEKAIQYFERASLIQPTQVKWQLMVASCFRRSGNYQKALDTYKDTHR
                     KFPENVECLRFLVRLCTDLGLKDAQEYARKLKRLEKMKEIREQRIKSGRDGSGGSRGK
                     REGSASGDSGQNYSASSKGERLSARLRALPGTNEPYESSSNKEIDASYVDPLGPQIER
                     PKTAAKKRIDEDDFADEELGDDLLPE"
     exon            197..259
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            260..316
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            317..370
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            371..434
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            435..504
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            505..595
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            596..700
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            701..803
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            804..918
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1147
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1218
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1305
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1405
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1492
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1679
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1680..1788
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..1939
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            1940..2055
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2056..2108
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2174
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2175..2281
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2282..2348
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2349..2459
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     exon            2460..2850
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2750..2755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /note="hexamer: AATAAA"
     polyA_site      2770
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /note="major polyA site"
     regulatory      2825..2830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
                     /note="hexamer: AATAAA"
     polyA_site      2850
                     /gene="IFT88"
                     /gene_synonym="D13S1056E; DAF19; hTg737; TG737; TTC10"
ORIGIN      
        1 cttggattcc gcgcttggca acggctcggc gtcgcgcttt ggccaaccgc tgcgtcgtcc
       61 ctgggcccga ataactgtcg cccgcttccc tcagcgtgag gtacaaatga tgcaaaatgt
      121 gcacctggct ccagagacag atgaagatga tctttattcc ggctataatg actacaatcc
      181 aatctatgat atcgaggaat tggagaatga tgcagctttt cagcaagctg tgaggactag
      241 tcatggcaga agacctccaa taactgctaa aatatcaagc acggcagtta ctagacctat
      301 agctactgga tatgggtcca agacatctct ggcatcatca ataggaagac caatgacagg
      361 ggctattcag gatggagtta ctagacccat gacagcagtg agagcagctg gttttaccaa
      421 agcagctttg agaggctctg catttgaccc ccttagtcag tcaaggggcc ctgcttcccc
      481 tttggaagcc aagaaaaaag atagcccaga ggaaaaaata aagcaattag agaaggaagt
      541 aaatgagttg gtagaagaaa gctgtattgc caatagttgt ggagacttaa aattggcctt
      601 agaaaaggca aaagatgcag gaagaaaaga gagagtcctg gtgagacagc gagaacaagt
      661 tacaactcca gaaaatatca atttggattt aacttactca gttcttttca atttggccag
      721 tcagtattca gttaatgaaa tgtatgccga agcacttaac acttatcaag ttatagtcaa
      781 aaataagatg tttagcaatg caggaatatt gaaaatgaat atgggaaata tctatttaaa
      841 gcaaagaaat tattccaaag ccattaaatt ctaccgaatg gcattagacc aagttccaag
      901 tgtcaataag caaatgagga ttaaaataat gcagaatatt ggagttacat ttattcaggc
      961 tggtcagtat tcagatgcta ttaattcata tgagcacata atgagcatgg caccaaatct
     1021 gaaggcaggc tacaacctaa ctatctgtta ttttgctatt ggagaccgag aaaaaatgaa
     1081 gaaggcattc caaaaattga ttactgttcc attagaaatt gatgaagata aatatatttc
     1141 accaagtgat gatcctcata ctaacttagt aactgaagct ataaaaaatg atcacctcag
     1201 gcaaatggaa cgtgaaagga aagccatggc agaaaaatat attatgacat ctgcaaaact
     1261 cattgctcct gtaattgaaa catcttttgc tgcaggttat gattggtgcg tggaagtggt
     1321 gaaagcttct caatatgtag agctagccaa tgatctggaa ataaacaaag cagttacata
     1381 cttgagacaa aaagactata accaagctgt agagatctta aaagtgttgg aaaaaaagga
     1441 cagtagagtg aaaagtgcag ctgcaaccaa tctctcagcc ctgtattata tgggaaagga
     1501 ttttgcacaa gccagcagct atgcagatat agctgtgaac tctgatagat ataatccagc
     1561 agctcttact aataaaggga atacagtttt tgcaaatggt gattatgaga aggccgctga
     1621 attctataaa gaggctctaa gaaatgattc ttcttgtact gaagcacttt ataatattgg
     1681 ccttacctat gagaaactaa atcggctaga tgaggctttg gactgtttcc tgaaacttca
     1741 cgcaatccta cgaaacagtg ccgaagttct ttaccagata gcaaatatat atgaattaat
     1801 ggaaaatccc agtcaagcta ttgaatggct aatgcaggtg gtcagtgtta ttccaaccga
     1861 tcctcaagtt ttatctaagc taggagaatt atatgatcgt gaaggagata aatctcaagc
     1921 atttcaatat tactatgagt catataggta ttttccttgt aatattgaag tcattgagtg
     1981 gcttggagcc tattacattg acacccaatt ttgggaaaaa gctattcagt actttgaaag
     2041 agcttctctt atacagccta cacaagtgaa atggcagctg atggtagcta gttgtttcag
     2101 aagaagtggt aactaccaaa aagcattaga tacttacaaa gatactcaca gaaaatttcc
     2161 agaaaatgtc gaatgtctgc gtttcttagt tcgtctctgc acagatcttg gattaaaaga
     2221 tgctcaagaa tatgccagaa aactgaagag gttggaaaaa atgaaagaaa taagggaaca
     2281 gcgcataaag tcaggcagag atggcagtgg gggctcccgt ggcaaaagag aaggaagtgc
     2341 tagcggtgat agtggccaga actatagtgc cagtagtaaa ggtgaacgac taagtgccag
     2401 actcagagct ttacctggga caaatgaacc ttatgaaagt agcagtaaca aagaaataga
     2461 tgcctcctat gtggacccac ttggccctca aatagaacga ccaaaaactg cagccaagaa
     2521 aaggatcgat gaggatgatt ttgctgatga agaattagga gatgatttgc ttccagaata
     2581 atattcactt taatatttat taaaggaaag aaattgcctt atgagatcat cctcatgtta
     2641 aaccttggat taaatatcta acctgtaatt attttttttc actgtcaaaa cttaagtaag
     2701 tgtattctat tctgtatgta tgcatttaag ttgttttttt cttttaagga ataaaaacag
     2761 gtaaaactaa tactttaggc cagtgacttc cttagctttt tgaaaacatt gacacacagg
     2821 aagaaataaa tttcataaca caacctagta
//
