LOCUS       NM_014055               3124 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens intraflagellar transport 81 (IFT81), transcript
            variant 1, mRNA.
ACCESSION   NM_014055
VERSION     NM_014055.4
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 3124)
  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   2  (bases 1 to 3124)
  AUTHORS   Zhou,Z., Qiu,H., Castro-Araya,R.F., Takei,R., Nakayama,K. and
            Katoh,Y.
  TITLE     Impaired cooperation between IFT74/BBS22-IFT81 and
            IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome
  JOURNAL   Hum Mol Genet 31 (10), 1681-1693 (2022)
   PUBMED   34888642
  REMARK    GeneRIF: Impaired cooperation between IFT74/BBS22-IFT81 and
            IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
REFERENCE   3  (bases 1 to 3124)
  AUTHORS   Ashraf,T., Vaina,C., Giri,D., Burren,C.P., James,M., Offiah,A.C.,
            Overton,T., Baptista,J., Ellard,S. and Smithson,S.F.
  TITLE     Expanding the phenotypic spectrum of IFT81: Associated ciliopathy
            syndrome
  JOURNAL   Am J Med Genet A 182 (10), 2403-2408 (2020)
   PUBMED   32783357
  REMARK    GeneRIF: Expanding the phenotypic spectrum of IFT81: Associated
            ciliopathy syndrome.
REFERENCE   4  (bases 1 to 3124)
  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 3124)
  AUTHORS   Pettersson,M., Vaz,R., Hammarsjo,A., Eisfeldt,J., Carvalho,C.M.B.,
            Hofmeister,W., Tham,E., Horemuzova,E., Voss,U., Nishimura,G.,
            Klintberg,B., Nordgren,A., Nilsson,D., Grigelioniene,G. and
            Lindstrand,A.
  TITLE     Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are
            associated with skeletal dysplasias
  JOURNAL   Hum Mutat 39 (10), 1456-1467 (2018)
   PUBMED   30080953
  REMARK    GeneRIF: Our data highlights the importance of detection and
            careful characterization of intragenic duplication CNVs, presenting
            them as a novel and very rare genetic mechanism in IFT81-related
            Jeune syndrome and MATN3-related MED.
REFERENCE   6  (bases 1 to 3124)
  AUTHORS   Katoh,Y., Terada,M., Nishijima,Y., Takei,R., Nozaki,S., Hamada,H.
            and Nakayama,K.
  TITLE     Overall Architecture of the Intraflagellar Transport (IFT)-B
            Complex Containing Cluap1/IFT38 as an Essential Component of the
            IFT-B Peripheral Subcomplex
  JOURNAL   J Biol Chem 291 (21), 10962-10975 (2016)
   PUBMED   26980730
REFERENCE   7  (bases 1 to 3124)
  AUTHORS   Perrault,I., Halbritter,J., Porath,J.D., Gerard,X., Braun,D.A.,
            Gee,H.Y., Fathy,H.M., Saunier,S., Cormier-Daire,V., Thomas,S.,
            Attie-Bitach,T., Boddaert,N., Taschner,M., Schueler,M.,
            Lorentzen,E., Lifton,R.P., Lawson,J.A., Garfa-Traore,M., Otto,E.A.,
            Bastin,P., Caillaud,C., Kaplan,J., Rozet,J.M. and Hildebrandt,F.
  TITLE     IFT81, encoding an IFT-B core protein, as a very rare cause of a
            ciliopathy phenotype
  JOURNAL   J Med Genet 52 (10), 657-665 (2015)
   PUBMED   26275418
REFERENCE   8  (bases 1 to 3124)
  AUTHORS   Bhogaraju,S., Cajanek,L., Fort,C., Blisnick,T., Weber,K.,
            Taschner,M., Mizuno,N., Lamla,S., Bastin,P., Nigg,E.A. and
            Lorentzen,E.
  TITLE     Molecular basis of tubulin transport within the cilium by IFT74 and
            IFT81
  JOURNAL   Science 341 (6149), 1009-1012 (2013)
   PUBMED   23990561
  REMARK    GeneRIF: this study found that the two core intraflagellar
            transport proteins IFT74 and IFT81 form a tubulin-binding module
            and mapped the interaction to a calponin homology domain of IFT81
            and a highly basic domain in IFT74.
REFERENCE   9  (bases 1 to 3124)
  AUTHORS   Peng,J., Yu,L., Horiuchi,M., Zhang,P., Huang,X., Zhang,Y., Li,D.,
            Jalil,M.A. and Zhao,S.
  TITLE     Identification of human CDV-1R and mouse Cdv-1R, two novel proteins
            with putative signal peptides, especially highly expressed in
            testis and increased with the male sex maturation
  JOURNAL   Mol Biol Rep 29 (4), 353-362 (2002)
   PUBMED   12549821
  REMARK    GeneRIF: inconsistent expression levels of human CDV-1 and mouse
            Cdv-1 in heart implied that cardiac hypertrophy in human SCD might
            not be associated with the abnormal expression of CDV-1
REFERENCE   10 (bases 1 to 3124)
  AUTHORS   Higashi,M., Kobayashi,K., Iijima,M., Wakana,S., Horiuchi,M.,
            Yasuda,T., Yoshida,G., Kanmura,Y. and Saheki,T.
  TITLE     Genomic organization and mapping of mouse CDV (carnitine
            deficiency-associated gene expressed in ventricle)-1 and its
            related CDV-1R gene
  JOURNAL   Mamm Genome 11 (12), 1053-1057 (2000)
   PUBMED   11130971
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP351086.1 and AF332010.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014055.3.
            
            Summary: The protein encoded by this gene, together with IFT74,
            forms a tubulin-binding module of intraflagellar transport complex
            B. This module is involved in transport of tubulin within the
            cilium, and the encoded protein is required for ciliogenesis.
            Mutations in this gene are a cause of short-rib polydactyly
            syndromes. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 3
            both encode 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 :: SRR1660807.222467.1, AF332010.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242591.10/ ENSP00000242591.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                BP351086.1         23-109
            88-3124             AF332010.1         68-3104
FEATURES             Location/Qualifiers
     source          1..3124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..3124
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /note="intraflagellar transport 81"
                     /db_xref="GeneID:28981"
                     /db_xref="HGNC:HGNC:14313"
                     /db_xref="MIM:605489"
     exon            1..505
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            506..670
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     CDS             527..2557
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carnitine deficiency-associated gene expressed in
                     ventricle 1; intraflagellar transport protein 81 homolog;
                     carnitine deficiency-associated protein expressed in
                     ventricle 1"
                     /codon_start=1
                     /product="intraflagellar transport protein 81 homolog
                     isoform 1"
                     /protein_id="NP_054774.2"
                     /db_xref="CCDS:CCDS41831.1"
                     /db_xref="GeneID:28981"
                     /db_xref="HGNC:HGNC:14313"
                     /db_xref="MIM:605489"
                     /translation="MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAE
                     IDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVL
                     HWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQ
                     LKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKER
                     EEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYM
                     VTEKFPKELENKKKELHFLQKVVSEPAMGHSDLLELESKINEINTEINQLIEKKMMRN
                     EPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLEREASVKRNQTREFDGTEVL
                     KGDEFKRYVNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTME
                     EKKGISGYSYTQEELERVSALKSEVDEMKGRTLDDMSEMVKKLYSLVSEKKSALASVI
                     KELRQLRQKYQELTQECDEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQEESRYHY
                     TNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAIREQYTKNTAEQENLGKKLREKQKV
                     IRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLIL"
     exon            671..774
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            775..955
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1045
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1111
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1222
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1307
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1471
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1567
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1714
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1864
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1865..1993
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2083
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2084..2170
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2242
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2243..2328
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2329..2374
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..3124
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3086..3091
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /note="hexamer: AATAAA"
     polyA_site      3124
                     /gene="IFT81"
                     /gene_synonym="CDV-1; CDV-1R; CDV1; CDV1R; DV1; SRTD19"
                     /note="major polyA site"
ORIGIN      
        1 gttgccaagg agctcgactc tgggagcggt ctagagcccg ggcgcctcct ggggggtggg
       61 gaaacggttt cgtgaggaga atttgaggta acctcgccaa ctcgcggtcg gaagctcctc
      121 tgaaccccga aataggagag agctcccgtc ctctctcggt cctgatgcag cacctcgcaa
      181 gtggaagggg tcgtcgcggt taagcccccg gataggggaa tcgggcccct tctgggattc
      241 gagcggatcc aggccgctcc ctggagggat gaactgtcga ggggcccagg gcagcccccg
      301 ctagaggccc ggtcgggtgt ggggtcccct gtcccctgtc ccgagcccgg ggagggggac
      361 actatttctg gtactcccag gaggctgcgg gtcgatgctc gtgccagcct gggacccagg
      421 cagcacggtt tctctcccaa attgtgccag agaacacgca cgtcctggtt ttcattgttc
      481 cccgcctcct gcgactcgtt tgtggttaaa attataagac ctaattatga gtgatcaaat
      541 taaattcatt atggacagtc tcaataagga gccctttagg aagaactata atttaatcac
      601 gtttgattcc ttggagccaa tgcaactatt acaagttctc agtgatgttc tggctgagat
      661 tgacccaaag caacttgtgg atatcagaga ggagatgcca gagcagacag ccaaacgaat
      721 gttgagcctt cttggtattc ttaagtacaa accttcagga aatgccacag atatgagtac
      781 ttttcgtcag ggtttggtga ttggaagtaa acctgtaatt tacccagtgc tccactggct
      841 tcttcagagg actaatgaac tgaagaaaag agcatattta gctcgttttt taataaaact
      901 tgaggtacca agtgagtttc ttcaggatga aactgtggct gacaccaata aacagtatga
      961 agagttaatg gaagccttta aaactttgca taaagaatat gagcagctca agatatctgg
     1021 attttctaca gcagaaataa gaaaggatat cagtgcaatg gaagaagaaa aggatcagct
     1081 cattaagaga gttgaacatt tgaagaaaag ggttgagaca gctcagaatc atcaatggat
     1141 gcttaaaata gcaaggcaac ttcgagttga aaaagagaga gaagaatatc ttgcacaaca
     1201 gaaacaggaa caaaagaatc agctatttca tgcagtgcaa agattgcaaa gagtacaaaa
     1261 ccagctgaaa agcatgcgcc aagctgcagc agatgcaaag cctgaaagtt taatgaagag
     1321 gctagaggag gagataaaat ttaatttata tatggtaact gaaaaatttc ctaaagaatt
     1381 agaaaataag aaaaaggaat tacatttttt acaaaaagta gtttcagagc cagctatggg
     1441 ccattctgat cttcttgaac ttgaatctaa aataaatgaa ataaacacag aaattaacca
     1501 gttgattgaa aagaaaatga tgagaaatga gcccattgaa ggcaaactct cactgtatag
     1561 gcaacaggca tctatcattt cccgtaaaaa agaagccaaa gctgaggaac ttcaggaggc
     1621 caaggagaag ttagccagcc tagagagaga agcatcagta aagagaaatc agacccgtga
     1681 atttgatggt actgaagttt taaagggaga tgagttcaaa cgatatgtca ataaacttcg
     1741 aagcaagagt acagttttca aaaagaagca tcagataata gctgaactta aagctgaatt
     1801 cggtcttttg cagaggactg aagaacttct taagcaacgt catgaaaata ttcaacaaca
     1861 actgcaaact atggaggaga aaaagggtat atctggatat agttacaccc aagaagagct
     1921 agaaagagta tctgcactga agagtgaagt tgatgaaatg aaaggacgaa cattggatga
     1981 tatgtctgaa atggtgaaaa aactgtattc attggtatct gaaaagaagt cagctcttgc
     2041 ctcagttata aaagagctac gacagttgcg tcaaaaatat caagaactga cccaggagtg
     2101 tgatgaaaag aaatcccagt atgatagctg tgcagcaggc ctcgaaagca atcggtccaa
     2161 attagaacag gaagttagaa gactccgtga agaatgtctt caagaagaaa gtagatacca
     2221 ttatacaaat tgtatgatta agaacctaga agttcaactt cgtcgtgcta ctgatgagat
     2281 gaaggcatat atctcttctg atcaacaaga aaaaagaaag gcaattaggg aacagtatac
     2341 caaaaatact gctgaacaag aaaaccttgg aaagaaactt cgggaaaaac aaaaagttat
     2401 acgagaaagt catggtccaa atatgaaaca agcaaaaatg tggcgtgatt tggaacaatt
     2461 aatggaatgt aagaaacagt gctttctgaa acaacaaagc caaacttcca ttggtcaggt
     2521 aattcaggag ggtggggagg accggctaat actgtgaatt cttgtgtcat cgtttggggt
     2581 tttacttgat accactagct ataagcctaa tctcataatg tatttctttt ttgaaactga
     2641 tttgtatagc attttgtttt cagaagagcc attctttatt aagttttcat agaaaataat
     2701 gttaaggtag atttagtttg aatgtttttt catatgaaaa agaggctttt attcttttcc
     2761 atagtttaga catcactggc gtcttctgag ttttatgaga caggaaacta agtttactat
     2821 ctgtaaatgt aaacatatgt ccattaagaa acatgtagtt tttttttaga atgtaataac
     2881 ccagtggctt actgtttttc ttaatctctt ttaaaaaaac tttagaagaa tcttttagga
     2941 actaatatct cttgttctga agaaacattt atctgacgtt cagcagttcc tacagtttta
     3001 cttcagttta tttttcttct gtaaaatgca agaaaattta atattttgac taacatgtct
     3061 tttctgtttg tatcatttaa aggcaaataa acttggtacg tatttcatat ctatttaaaa
     3121 aatg
//
