LOCUS       NM_024926               4299 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens intraflagellar transport 56 (IFT56), transcript
            variant 1, mRNA.
ACCESSION   NM_024926
VERSION     NM_024926.4
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 4299)
  AUTHORS   David,O., Eskin-Schwartz,M., Ling,G., Dolgin,V., Kristal,E.,
            Benkowitz,E., Osyntsov,L., Gradstein,L., Birk,O.S., Loewenthal,N.
            and Yerushalmi,B.
  TITLE     Pituitary stalk interruption syndrome broadens the clinical
            spectrum of the TTC26 ciliopathy
  JOURNAL   Clin Genet 98 (3), 303-307 (2020)
   PUBMED   32617964
  REMARK    GeneRIF: Pituitary stalk interruption syndrome broadens the
            clinical spectrum of the TTC26 ciliopathy.
REFERENCE   2  (bases 1 to 4299)
  AUTHORS   Shaheen,R., Alsahli,S., Ewida,N., Alzahrani,F., Shamseldin,H.E.,
            Patel,N., Al Qahtani,A., Alhebbi,H., Alhashem,A., Al-Sheddi,T.,
            Alomar,R., Alobeid,E., Abouelhoda,M., Monies,D., Al-Hussaini,A.,
            Alzouman,M.A., Shagrani,M., Faqeih,E. and Alkuraya,F.S.
  TITLE     Biallelic Mutations in Tetratricopeptide Repeat Domain 26
            (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in
            Humans
  JOURNAL   Hepatology 71 (6), 2067-2079 (2020)
   PUBMED   31595528
  REMARK    GeneRIF: Biallelic Mutations in Tetratricopeptide Repeat Domain 26
            (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in
            Humans.
REFERENCE   3  (bases 1 to 4299)
  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   4  (bases 1 to 4299)
  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   5  (bases 1 to 4299)
  AUTHORS   Ishikawa,H., Ide,T., Yagi,T., Jiang,X., Hirono,M., Sasaki,H.,
            Yanagisawa,H., Wemmer,K.A., Stainier,D.Y., Qin,H., Kamiya,R. and
            Marshall,W.F.
  TITLE     TTC26/DYF13 is an intraflagellar transport protein required for
            transport of motility-related proteins into flagella
  JOURNAL   Elife 3, e01566 (2014)
   PUBMED   24596149
  REMARK    GeneRIF: TTC26 is an intraflagellar transport protein required for
            transport of motility-related proteins into flagella.
            Erratum:[Elife. 2014 Apr 01;3:e02897. doi: 10.7554/eLife.02897..
            PMID: 24692455]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4299)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 4299)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  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
            BP315162.1, BC126331.1, AC009220.10 and CA450032.1.
            
            On Nov 22, 2018 this sequence version replaced NM_024926.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK022633.1, SRR1660803.248116.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000464848.5/ ENSP00000419279.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                BP315162.1         35-81
            48-1918             BC126331.1         7-1877
            1919-3591           AC009220.10        38317-39989
            3592-4299           CA450032.1         18-725              c
FEATURES             Location/Qualifiers
     source          1..4299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..4299
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /note="intraflagellar transport 56"
                     /db_xref="GeneID:79989"
                     /db_xref="HGNC:HGNC:21882"
                     /db_xref="MIM:617453"
     exon            1..83
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1745
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tetratricopeptide repeat protein 26; TPR repeat protein
                     26; intraflagellar transport protein 56; tetratricopeptide
                     repeat domain 26"
                     /codon_start=1
                     /product="intraflagellar transport protein 56 isoform 1"
                     /protein_id="NP_079202.2"
                     /db_xref="CCDS:CCDS5852.1"
                     /db_xref="GeneID:79989"
                     /db_xref="HGNC:HGNC:21882"
                     /db_xref="MIM:617453"
                     /translation="MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAIT
                     LLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYF
                     FLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASI
                     HYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDS
                     TIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQV
                     LPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMG
                     SRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYND
                     DIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWEL
                     YLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIF
                     QMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI"
     exon            84..221
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            222..314
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            315..429
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            430..479
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            480..625
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            626..797
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            798..872
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            873..975
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1031
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1085
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1149
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1238
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1322
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1392
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1499
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1633
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..4299
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2091..2096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /note="hexamer: AACAAA"
     polyA_site      2115
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /note="major polyA site"
     regulatory      4275..4280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
                     /note="hexamer: ATTAAA"
     polyA_site      4299
                     /gene="IFT56"
                     /gene_synonym="BRENS; dyf-13; DYF13; TTC26"
ORIGIN      
        1 agaacgtgct gtgtggatgc ggcgaaacgc tgaggcgcgg ccttcgctgt gtggtgggga
       61 ctcacaagac cgacgtcaag atgatgcttt caagggccaa acctgctgta ggcagaggcg
      121 tacagcacac tgacaaaaga aagaagaaag gtaggaagat tccaaaacta gaggagctac
      181 tttcaaaaag agatttcact ggagctatta ccctgttgga gttcaaacgt catgttgggg
      241 aagaagaaga ggatactaat ttgtggattg gatattgtgc ctttcacctg ggtgactaca
      301 agagagctct ggaggaatac gaaaatgcta caaaagagga aaattgtaat tctgaagtct
      361 gggtgaacct agcttgcacc tacttctttc ttgggatgta taaacaagct gaagcagctg
      421 gatttaaagc ttcaaaaagc cgactccaaa accgcctcct cttccacttg gctcacaagt
      481 ttaatgatga gaaaaaattg atgagctttc atcaaaatct tcaggatgtc acagaagatc
      541 aactcagttt ggcctcaatc cactatatgc gatctcacta ccaagaagct atagatatat
      601 ataagcgaat actgctagat aacagggaat accttgccct taatgtttat gtggccctct
      661 gctactacaa gttggattac tatgatgtgt ctcaagaagt tttggctgtt taccttcagc
      721 aaattcctga tagtaccatc gcactcaatc ttaaagcctg taaccatttt cgcctttaca
      781 atggcagagc agctgaggca gaactcaaaa gcttgatgga caatgcttct tcatcctttg
      841 aatttgctaa agaactcatc aggcacaatc tggttgtttt ccgaggaggt gaaggggctt
      901 tgcaggtttt acctccccta gttgatgtca ttcctgaagc taggctaaac ttggtgattt
      961 actaccttcg tcaagatgat gtacaagaag cttataactt aattaaggat ctggaaccta
     1021 ctactcctca ggagtatatt ctcaaaggag tggtcaatgc agcccttggc caggaaatgg
     1081 gttcaaggga tcatatgaaa attgcccagc agttcttcca gttggtggga ggatcagcta
     1141 gtgaatgtga tacaatacca gggaggcagt gcatggcttc ctgtttcttc ctgcttaagc
     1201 aatttgatga tgttttgatt tacctcaact catttaagag ttacttctat aatgatgaca
     1261 tctttaactt taattatgcc caagccaaag ctgcaacagg caataccagt gagggcgaag
     1321 aggcgttcct cttgatccaa agtgagaaga tgaaaaatga ttacatttac ctcagctggt
     1381 tagctcggtg ctatattatg aataagaaac caagactagc ctgggaactt tatcttaaga
     1441 tggaaacctc cggcgagtcc ttcagtctct tacagctcat tgctaatgac tgctacaaga
     1501 tgggccagtt ttactattct gccaaagctt ttgatgtcct tgagaggctg gatcctaacc
     1561 ctgaatattg ggaaggcaaa cggggtgcct gtgtgggcat tttccagatg atcatagctg
     1621 ggagagaacc caaagagacc cttcgagaag tgctccattt actgagaagc acaggtaaca
     1681 cccaagtaga atacatgatc cggatcatga agaaatgggc caaagaaaac agagtgtcca
     1741 tctaaaatag cgccagcgtc ctaggaacca gcttctactt tgacataaaa ctggaaatca
     1801 ttttcactcc agtttaatct gtgatacagg gctctgtttt attgacattt tccttccttg
     1861 ctctttaagc ctcaaggtca gagactgact tgctgagact tagtctcctg gctgaacaga
     1921 gtgccatagt ctgtgaccct gtatgatcct agtagcaata agattttgga cttatctggt
     1981 gcctttcttc caaaaatgct cagagtactt ttatgcaatt tactgacttt aaggaaaaca
     2041 gtataacttt tttttgttag cattttatgg cattgtctcc tggctgcaat aacaaacatc
     2101 tttgatgttc aagaatcagc atcattgtat catttaactt taaggcgtct ctgtacgtta
     2161 tcccatttta ttggggaatt ccataaaggg ttttataacg tcatctctga atcttgggag
     2221 aataactagc tatgtgtttc taagaaaggc agtaagctac tttatcaaac tgtccagtca
     2281 ttaataggat agatttatgg gattactctt tcagtaatta aattgttgat gataataaca
     2341 tgttacagcg cagtaagatg agtattgcaa tgttttaaaa ggtgagtact atgaaaaaaa
     2401 ttgtagtacc tctaaaggta ttcaagaaac aatgtttatg aatctcacta gtccattata
     2461 gtttggtacc ataattattt taggtaacaa agcaggttag gtttttgtta atgtatcttg
     2521 cttaacaaac atcagttttt gttgttgttg ttgttgttgt tgttgttgtt gtttttgaga
     2581 cggagtctcg ctctgtcgcc caggctggag tacagtggtg cgatctcggc tcactgcaag
     2641 ctccacctcc tgggttcacg ccagtctcct gcctcagcct tctgagtagc tgggactaca
     2701 ggcacccgcc accgcgcccg gctaattttt tgtattttta gtagagacgg ggtttcaccg
     2761 tgttagccac aatgctctcc atctcctgac ctcgtgatcc gcccgtctca gcctcccaaa
     2821 gtgctgggat tacaggcatg agccaccgcg cctggcccaa acatcagttt tgaaagtagg
     2881 gctacagtga tttatatgta ttgtgggcac ttattaatgt aacgataata aaacatgaat
     2941 cgtataaagt cctttgaggg aatctcctaa tggctaggct ctctgtcgta agtcatattc
     3001 cagccccagg cttctgagct cttataacat acaactgagc attcttaagc tcacaaccta
     3061 tttccagaaa agagacccac atctttctat gttttatact acctttgttt ttacaccata
     3121 tagttttttt ctattagttt aaggtaccta gtgttacagg tctagaaagt gcagagccat
     3181 ccctacctag aagagaatag atgggaagag aactgaaaga aagaattcct caagcactga
     3241 agtcaggaaa atccccgtag gcactgtatt agttgttcca tttatcccag cactccactt
     3301 gtggatgaag gagttgtata gaaaggagat gagaaaatgg caggagtgga agcagccaag
     3361 aagagatcga tgactgaaga tctccttcac cttcaggact gtctcaaggg gttatttcac
     3421 ctctactcat gaggatggcc agtttttctg tcttttatct ttagacccat atataatcag
     3481 ttcagagcac aaatcaaaat aaactggcct aaataactga attctaggaa gcaaagctac
     3541 atcttttttc atatgccaaa gcttctgttt cctcatgttg ttcctacttt ttaaataata
     3601 aatggctctc agcatcttag gaactagatg ggtcccatct gggtagaacc tgctataatt
     3661 tttagaatca ctcttgtaat tcttacctca cttaaaatat taggaaacac agtaatagaa
     3721 aagacaggga gaactcgtct gcaggttttg gcagtgaaat ttgtcttcca gtgaattgct
     3781 attattttca aattgcctat agtcaaaaag cttttccatt gatggagact tactttcaaa
     3841 tgagcttgtg ttgaattcag cactctagat tctctctgac attttcctgt cttttgggaa
     3901 aaaaaagcag atattccaaa aatggcagaa atctaatttt tgtaaacttt ttcatctata
     3961 ggattgagcc aaaaaacata catactattt taaagaaagg taccatctaa ttcttttatt
     4021 aaagatagct acttctgaaa tgtcttaaca gagtttcaag attgcaaagt agtattgcat
     4081 agctggtttt cttacatgtg atgatggagg agagaggaag acccagactt aggcatgtag
     4141 tgaaatatgt acagtttctg gcatcagtgt actatttata gtctatagca tacattactt
     4201 gcaaatggga aaagtatttt ataattattt ttgtacctca aaataattat tatattctac
     4261 tgtattatat tcaaattaaa gtttattatt tgattctta
//
