LOCUS       NM_152517               3799 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens intraflagellar transport 70B (IFT70B), mRNA.
ACCESSION   NM_152517
VERSION     NM_152517.3
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 3799)
  AUTHORS   Du,Y., Chen,F., Zhang,J., Lin,Z., Ma,Q., Xu,G., Xiao,D., Gui,Y.,
            Yang,J. and Wan,S.
  TITLE     A rare TTC30B variant is identified as a candidate for
            synpolydactyly in a Chinese pedigree
  JOURNAL   Bone 127, 503-509 (2019)
   PUBMED   31306809
  REMARK    GeneRIF: A rare TTC30B variant is identified as a candidate for
            synpolydactyly in a Chinese pedigree.
REFERENCE   2  (bases 1 to 3799)
  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   3  (bases 1 to 3799)
  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   4  (bases 1 to 3799)
  AUTHORS   Howard,P.W., Jue,S.F. and Maurer,R.A.
  TITLE     Interaction of mouse TTC30/DYF-1 with multiple intraflagellar
            transport complex B proteins and KIF17
  JOURNAL   Exp Cell Res 319 (14), 2275-2281 (2013)
   PUBMED   23810713
REFERENCE   5  (bases 1 to 3799)
  AUTHORS   Zhao,C. and Malicki,J.
  TITLE     Nephrocystins and MKS proteins interact with IFT particle and
            facilitate transport of selected ciliary cargos
  JOURNAL   EMBO J 30 (13), 2532-2544 (2011)
   PUBMED   21602787
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA260391.1, DA557876.1, BC033795.1, AW007843.1, AI498353.1 and
            AC073834.6.
            
            On May 17, 2019 this sequence version replaced NM_152517.2.
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR6380202.54350.7, SRR1660809.212068.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000408939.4/ ENSP00000386181.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-299               DA260391.1         1-299
            300-587             DA557876.1         301-588
            588-2168            BC033795.1         572-2152
            2169-2281           AW007843.1         375-487             c
            2282-2645           AI498353.1         8-371               c
            2646-3799           AC073834.6         42094-43247         c
FEATURES             Location/Qualifiers
     source          1..3799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.2"
     gene            1..3799
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="intraflagellar transport 70B"
                     /db_xref="GeneID:150737"
                     /db_xref="HGNC:HGNC:26425"
                     /db_xref="MIM:620742"
     exon            1..3799
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..2031
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="tetratricopeptide repeat protein 30B; TPR repeat
                     protein 30B; tetratricopeptide repeat domain 30B"
                     /codon_start=1
                     /product="intraflagellar transport protein 70B"
                     /protein_id="NP_689730.2"
                     /db_xref="CCDS:CCDS42784.1"
                     /db_xref="GeneID:150737"
                     /db_xref="HGNC:HGNC:26425"
                     /db_xref="MIM:620742"
                     /translation="MAGLSGAQIPDGEFTAVVYRLIRNARYAEAVQLLGGELQRSPRS
                     RAGLSLLGYCYYRLQEFALAAECYEQLGQLHPELEQYRLYQAQALYKACLYAEATRVA
                     FLLLDNPAYHSRVLRLQAAIKYSEGDLPGSRSLVEQLPSREGGEESGGENETDGQINL
                     GCLLYKEGQYEAACSKFFAALQASGYQPDLSYNLALAYYSSRQYASALKHIAEIIERG
                     IRQHPELGVGMTTEGIDVRSVGNTLVLHQTALVEAFNLKAAIEYQLRNYEAAQEALTD
                     MPPRAEEELDPVTLHNQALMNMDARPTEGFEKLQFLLQQNPFPPETFGNLLLLYCKYE
                     YFDLAADVLAENAHLIYKFLTPYLYDFLDAVITCQTAPEEAFIKLDGLAGMLTEVLRK
                     LTIQVQEARHNRDDEAIKKAVNEYDETMEKYIPVLMAQAKIYWNLENYPMVEKIFRKS
                     VEFCNDHDVWKLNVAHVLFMQENKYKEAIGFYEPIVKKHYDNILNVSAIVLANLCVSY
                     IMTSQNEEAEELMRKIEKEEEQLSYDDPDKKMYHLCIVNLVIGTLYCAKGNYDFGISR
                     VIKSLEPYNKKLGTDTWYYAKRCFLSLLENMSKHTIMLRDSVIQECVQFLEHCELHGR
                     NIPAVIEQPLEEERMHVGKNTVTYESRQLKALIYEIIGWNI"
     regulatory      2622..2627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="hexamer: AATGAA"
     polyA_site      2645
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="major polyA site"
     regulatory      3733..3738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="hexamer: AATGAA"
     polyA_site      3756
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="major polyA site"
     regulatory      3764..3769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="hexamer: ATTAAA"
     polyA_site      3799
                     /gene="IFT70B"
                     /gene_synonym="fleer; IFT70; TTC30B"
                     /note="major polyA site"
ORIGIN      
        1 atagtaaccg cacccataac agccgtggtg gttatggctg gcctgagcgg cgcgcagatc
       61 cccgacgggg agttcaccgc ggtcgtgtac cgcctcatcc gcaatgcacg ctacgccgag
      121 gcggtgcagc tgctgggcgg agaactgcag cggagcccta ggagccgcgc cggcctgtcg
      181 ctgctaggct actgctacta ccgcctgcag gagttcgcgc tggcggccga gtgctatgag
      241 cagctgggcc agctgcaccc ggaactggag cagtaccgcc tgtaccaggc ccaggccctg
      301 tacaaggcct gcctttatgc ggaggccacc cgggtcgcct tccttctcct ggataacccc
      361 gcctaccaca gccgggtcct ccgcctgcaa gctgctatca agtacagcga gggcgatctg
      421 ccagggtcca ggagcctggt agagcagctg ccgagtaggg aagggggaga ggaaagtggg
      481 ggcgagaatg agaccgatgg ccagatcaac ctgggttgtt tgctctacaa ggagggacag
      541 tatgaagctg catgctccaa gttttttgcc gccctgcagg cctcgggcta ccagcctgac
      601 ctttcctaca acctggcttt ggcctattac agcagccgac agtatgcttc agcactgaag
      661 catatcgctg agattattga gcgtggcatc cgccagcacc ctgagctagg tgtgggcatg
      721 accactgagg gcattgatgt tcgcagtgtt ggcaacacct tagtcctcca tcagactgct
      781 ctggtggaag ccttcaacct taaggcagct atagaatacc aactgagaaa ctatgaggca
      841 gctcaagaag ccctcactga catgccaccc agggcagagg aagagttgga ccctgtgacc
      901 ctacacaacc aggcactaat gaacatggat gccaggccta cagaagggtt tgaaaagcta
      961 cagtttttgc tccaacagaa tccctttcct ccagagactt ttggcaacct gttgctgctc
     1021 tactgtaaat atgagtattt tgacctggca gcagatgtcc tggcagaaaa tgcccatttg
     1081 atttataagt tcctcacacc ctatctctat gacttcttgg acgctgtgat cacttgccag
     1141 acagctcctg aagaggcttt cattaagctt gatgggctag cagggatgct gactgaggtc
     1201 ctccggaaac ttaccataca agtacaggaa gcaagacaca atagagatga tgaagctatc
     1261 aaaaaggcag tgaatgaata tgatgaaacc atggagaaat acattcctgt gttgatggct
     1321 caggcaaaaa tctactggaa tcttgaaaat tatccaatgg tggaaaagat cttccgcaaa
     1381 tctgtggaat tctgtaacga ccatgatgtg tggaagttga atgtggctca tgttctgttc
     1441 atgcaggaaa acaaatacaa agaagccatt ggtttctatg aacccatagt caagaagcat
     1501 tatgataaca tcctgaatgt cagtgctatt gtactggcta atctctgtgt ttcctatatt
     1561 atgacaagtc aaaatgaaga agcagaggag ttgatgagga agattgaaaa ggaggaagag
     1621 cagctctctt atgatgaccc agataagaaa atgtaccatc tctgcattgt gaatttggtg
     1681 ataggaactc tttattgtgc caaaggaaat tatgactttg gtatttctcg agttatcaaa
     1741 agcttggaac cttacaacaa aaagctggga acagacacct ggtattatgc caaaagatgc
     1801 ttcctgtcct tgttagaaaa catgtcaaaa cacacaatca tgcttcgtga tagtgttatt
     1861 caagaatgtg tccagtttct agaacactgt gaacttcatg gcagaaacat acctgctgtt
     1921 attgaacaac ccctggaaga agaaagaatg catgttggaa agaatacagt cacatatgag
     1981 tctaggcagt taaaagcttt gatttatgag attataggat ggaatatata gtaatagctg
     2041 atagtggcat ttatcaaatg gctttgttat gtaaatttgc atcgctttat ttaccctttg
     2101 gcatctttat atttgttaca tgttgaactt tgtacactta tgcattataa aaaaaaaagt
     2161 agctaaaact tttgctgtta aatttcccag aaagtgacat attctaagaa cttttacccc
     2221 aggagttatg aaaaattcca aacttatgag gaatgtttat atcagaagtt gtaatacgtt
     2281 tgtttccttt cctctgttat cttttgtgct ttgacgtatc ttgaggggtc tttgcacaag
     2341 gattacatca ttcagggacc aagcactatc tcagtaatag ttaagagtag tctttaaata
     2401 atcatttcag ggattgtgtg agagtagtct cacaatttac actcattaat ttgtaatgca
     2461 tactttttat atagacttta ggatattttg gcagtgttta ttcatatgga tataattctt
     2521 tacctaacca aaattcctta ggttataagt ggttttaacg tgcaaaagtc agtaaaaaat
     2581 tttgttgcct taacaaaatt atggtgctat aatgtagaga caatgaacga ttatcaaaga
     2641 acaaatttcc ctggttttct tttgttccct ttaataattt aaatatatga acaagataca
     2701 ctgttactat tttccatgat aactttttaa atatctctgt gagaaataac agagctatcc
     2761 tgagaactca ggggtttgtt taagagacac aggttttgtt atgtttgttg cccaggctag
     2821 tatccagctc ctaggcttaa gcatactccc acttcagctt cccaagtagc tgggactact
     2881 ggcacaaatc actgggtcca gttctcagtt cttaattcct acctttgtgt ttgcaattta
     2941 ggatatgctg gctgtacagt gtttccatgt tgtagcctct tgaataagga aaaatctcag
     3001 ccaccaggtc tgaccaaaaa ggtcaattct aagttgtaat gttcatttca tgtccgcaac
     3061 tcccaagagt tatttggagt tcccactggg aaccacatgc attctgatca ggcattttat
     3121 tttctgaacc ttacaagagc cttactattt gatttcccac tcctcactcc tctcttccca
     3181 caaaaagtaa ctgtcaatcc taacttgacc tggcttagaa aaatcaagtg tattagactg
     3241 aatcatatgc agttgttgat tttgacagtt tttgatgtac aaaactagca gtttctcata
     3301 gctcaaccta gtagctttct tctgaatgat agggaacctc tgccataatg agatgatttt
     3361 ttccttcaag gaaaaggaac cacttagcca cataagtact gataagaaac atgctcagca
     3421 taattcctct gtagcatgac ctcctgagtg ctcaaattgt attataccag gaaatttggc
     3481 ttattgtgaa gttcaatggt tttgaattta tggcatttta aatcttaatt atctgagctg
     3541 ctatcattta ccactgatgc tttagtctca catgtggagg acaagcaatg tttagtgacc
     3601 tcttcactgc atcccatagc acattcaatg tctgggaaat gttctttgtt tgacaacttc
     3661 tgtactaaaa gtgttgctgc agtagctttg tgcccctgtc agtcttggta gccccttaag
     3721 atttggaaag taaatgaact gaaatcttgt tttcaatggc catattaaaa ttcttttttt
     3781 ttttcctgtt tcttctaaa
//
