LOCUS       NM_018010               3057 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens intraflagellar transport 57 (IFT57), mRNA.
ACCESSION   NM_018010
VERSION     NM_018010.4
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 3057)
  AUTHORS   Dong,K., Nihal,R., Meyer,T.J., Singh,S.P., Kaur,S. and Roberts,D.D.
  TITLE     CD47 and IFT57 Are Colinear Genes That Are Highly Coexpressed in
            Most Cancers and Exhibit Parallel Cancer-Specific Correlations with
            Survival
  JOURNAL   Int J Mol Sci 25 (16), 8956 (2024)
   PUBMED   39201643
  REMARK    GeneRIF: CD47 and IFT57 Are Colinear Genes That Are Highly
            Coexpressed in Most Cancers and Exhibit Parallel Cancer-Specific
            Correlations with Survival.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3057)
  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 3057)
  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 3057)
  AUTHORS   Sorusch,N., Yildirim,A., Knapp,B., Janson,J., Fleck,W., Scharf,C.
            and Wolfrum,U.
  TITLE     SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein
            Network to the Intraflagellar Transport Module by Direct Binding to
            IFT-B Proteins
  JOURNAL   Front Cell Dev Biol 7, 216 (2019)
   PUBMED   31637240
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3057)
  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 3057)
  AUTHORS   Baker,S.A., Freeman,K., Luby-Phelps,K., Pazour,G.J. and
            Besharse,J.C.
  TITLE     IFT20 links kinesin II with a mammalian intraflagellar transport
            complex that is conserved in motile flagella and sensory cilia
  JOURNAL   J Biol Chem 278 (36), 34211-34218 (2003)
   PUBMED   12821668
REFERENCE   7  (bases 1 to 3057)
  AUTHORS   Cheng,C.M., Huang,S.P., Chang,Y.F., Chung,W.Y. and Yuo,C.Y.
  TITLE     The viral death protein Apoptin interacts with Hippi, the protein
            interactor of Huntingtin-interacting protein 1
  JOURNAL   Biochem Biophys Res Commun 305 (2), 359-364 (2003)
   PUBMED   12745083
  REMARK    GeneRIF: Hippi interacts with the viral death protein Apoptin.
REFERENCE   8  (bases 1 to 3057)
  AUTHORS   Gervais,F.G., Singaraja,R., Xanthoudakis,S., Gutekunst,C.A.,
            Leavitt,B.R., Metzler,M., Hackam,A.S., Tam,J., Vaillancourt,J.P.,
            Houtzager,V., Rasper,D.M., Roy,S., Hayden,M.R. and Nicholson,D.W.
  TITLE     Recruitment and activation of caspase-8 by the
            Huntingtin-interacting protein Hip-1 and a novel partner Hippi
  JOURNAL   Nat Cell Biol 4 (2), 95-105 (2002)
   PUBMED   11788820
  REMARK    GeneRIF: Results show that pro-apoptotic Hippi-Hip-1 heterodimers
            can recruit procaspase-8 into a complex of Hippi, Hip-1 and
            procaspase-8, and launch apoptosis through components of the
            'extrinsic' cell-death pathway.
REFERENCE   9  (bases 1 to 3057)
  AUTHORS   Mattson,M.P.
  TITLE     Accomplices to neuronal death
  JOURNAL   Nature 415 (6870), 377-379 (2002)
   PUBMED   11807533
  REMARK    GeneRIF: critical for the death-promoting effects of mutant
            huntingtin protein in cultured cells
REFERENCE   10 (bases 1 to 3057)
  AUTHORS   Kalchman,M.A., Koide,H.B., McCutcheon,K., Graham,R.K., Nichol,K.,
            Nishiyama,K., Kazemi-Esfarjani,P., Lynn,F.C., Wellington,C.,
            Metzler,M., Goldberg,Y.P., Kanazawa,I., Gietz,R.D. and Hayden,M.R.
  TITLE     HIP1, a human homologue of S. cerevisiae Sla2p, interacts with
            membrane-associated huntingtin in the brain
  JOURNAL   Nat Genet 16 (1), 44-53 (1997)
   PUBMED   9140394
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA362330.1, BC011899.2, AC012020.17 and AF139576.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018010.3.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            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 :: AF139576.1, SRR1660803.177068.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2159764
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264538.4/ ENSP00000264538.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA362330.1         147-151
            6-1598              BC011899.2         1-1593
            1599-2730           AC012020.17        150618-151749       c
            2731-3057           AF139576.1         2706-3032
FEATURES             Location/Qualifiers
     source          1..3057
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.12-q13.13"
     gene            1..3057
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="intraflagellar transport 57"
                     /db_xref="GeneID:55081"
                     /db_xref="HGNC:HGNC:17367"
                     /db_xref="MIM:606621"
     exon            1..314
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1392
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="HIP1 protein interactor; estrogen-related receptor
                     beta like 1; huntingtin interacting protein-1 interacting
                     protein; HIP1-interacting protein; dermal papilla-derived
                     protein 8; estrogen-related receptor beta-like protein 1;
                     intraflagellar transport 57 homolog"
                     /codon_start=1
                     /product="intraflagellar transport protein 57 homolog"
                     /protein_id="NP_060480.1"
                     /db_xref="CCDS:CCDS2951.1"
                     /db_xref="GeneID:55081"
                     /db_xref="HGNC:HGNC:17367"
                     /db_xref="MIM:606621"
                     /translation="MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVM
                     EDLVEKLKLLRYEEEFLRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPF
                     EQPQEYDDPNATISNILSELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIG
                     FTWKRPIYPVEELEEESVAEDDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHL
                     DMNETAKQEDILESTTDAAEWSLEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIE
                     SALKETKGFLDKLHNEITRTLEKISSREKYINNQLENLVQEYRAAQAQLSEAKERYQQ
                     GNGGVTERTRLLSEVMEELEKVKQEMEEKGSSMTDGAPLVKIKQSLTKLKQETVEMDI
                     RIGIVEHTLLQSKLKEKSNMTRNMHATVIPEPATGFY"
     exon            315..477
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            478..596
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            597..687
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            688..756
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            757..879
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            880..951
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1083
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1146
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1213
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..3057
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1571..1576
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="hexamer: AATAAA"
     regulatory      1580..1585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="hexamer: ATTACA"
     polyA_site      1598
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
     polyA_site      1601
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="major polyA site"
     regulatory      3037..3042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
                     /note="hexamer: AATAAA"
     polyA_site      3057
                     /gene="IFT57"
                     /gene_synonym="ESRRBL1; HIPPI; MHS4R2; OFD18"
ORIGIN      
        1 gcctggtaac cggtcgtggc tgtactggcg gcggcagggc tggcggctta ggccgcagag
       61 gtctgtgggc ctgagcccac gctggactct gtccgttctg cgatgactgc tgctctggcc
      121 gtcgtcacga cgtcgggttt ggaagatggg gtgcctaggt cccgtggcga agggaccggg
      181 gaagtggtct tggagcgggg gcccggcgcg gcctaccaca tgttcgtggt gatggaggac
      241 ttggtggaga agctgaagct gctccgctac gaggaggagt tcctccggaa gagcaacctg
      301 aaggccccgt ccagacacta ttttgcactg cctaccaacc ctggcgaaca gttctacatg
      361 ttttgtactc ttgctgcttg gttgattaat aaagcgggac gtccctttga gcagcctcaa
      421 gaatatgatg accctaatgc aacaatatct aacatactat ccgagcttcg gtcatttgga
      481 agaactgcag attttcctcc ttcaaaatta aagtcaggtt atggagaaca tgtatgctat
      541 gttcttgatt gcttcgctga agaagcattg aaatatattg gtttcacctg gaaaaggcca
      601 atatacccag tagaagaatt agaagaagaa agcgttgcag aagatgatgc agaattaaca
      661 ttaaataaag tggatgaaga atttgtggaa gaagagacag ataatgaaga aaactttatt
      721 gatctcaacg ttttaaaggc ccagacatat cacttggata tgaacgagac tgccaaacaa
      781 gaagatattt tggaatccac aacagatgct gcagaatgga gcctagaagt ggaacgtgta
      841 ctaccgcaac tgaaagtcac gattaggact gacaataagg attggagaat ccatgttgac
      901 caaatgcacc agcacagaag tggaattgaa tctgctctaa aggagaccaa gggatttttg
      961 gacaaactcc ataatgaaat tactaggact ttggaaaaga tcagcagccg agaaaagtac
     1021 atcaacaatc agcttgagaa tttggttcaa gaatatcgtg cagctcaagc ccagctgagt
     1081 gaggcaaagg agcgatacca gcagggaaat ggaggagtga cggaaagaac cagactcctc
     1141 tctgaggtta tggaagaatt agaaaaggta aaacaagaaa tggaagaaaa gggcagcagc
     1201 atgactgatg gtgctccttt ggtgaagatt aaacagagct taacaaaact gaagcaagaa
     1261 actgtagaga tggacattag aattggcatt gtggaacaca cactactcca atcaaagctg
     1321 aaggagaagt ccaacatgac taggaacatg catgccacag ttattccaga accagcaaca
     1381 ggcttttatt aaaacatact ggttttcatg tttctgatta gttgggtttt ttatatcaaa
     1441 ctatatttca tgttgcatag atttcaaaac ataattttat gttcaatggg tattttttta
     1501 catatacata ctcacatatt atatcatggt gattatgatg gttaaagcct ttacactgaa
     1561 tgtaatgttt aataaagaaa ttacaaattc tcactttcta agaagctttc actaatcatt
     1621 acctatgtta aagctcccac ctggtggctc atttttcata gcattccttg tgtaagccaa
     1681 ggtatatgac ctgcgttttc tgcagatgct gctgctgtca caacatgaac tgctgacaca
     1741 gtcctttacc ttgctccacc tctgcagtga tcataagtgc tttgtgccca gaggccactg
     1801 aagatggtag gcaggattct ttccaagaac ccaaactgcc tttgcctcag ctttatggtt
     1861 acctaaaatt gccacttttt ttaggttaaa aaaaacttca gtatcctcat taacatttga
     1921 agttggtttc ttatgaatat ttcgtggcta aaatgatttt atagggaatc tatcttctag
     1981 gatctaagcc actaaataaa aggataaatg aatgatgata agtcagtcac tcatgtttga
     2041 ctctgttctt agaatgaaga gaaggtgcat atgcatgtct caatttctac ctttttctgt
     2101 ggtatcggct atactaggga accattttgt agaagaagga acgatgacag gtcgcatgaa
     2161 gatcagcctc tagtactgat gatctttact tatgcatctt cctgagcaac tttctaggct
     2221 aggatttcta aattggtgaa aaaagcagca ttagagtgcc agaattagca ctggggaaaa
     2281 ctggccaggg gaacacaaag caggagacag cctgcgttaa tttttttttt ttaataattt
     2341 tcaaaagcag tggtagaaaa tttgataaga atgctttatg tttaggacaa caaaaataat
     2401 tttaaaaagt tattttttac cctaatactt ttctccactg aatattatta tttttttctt
     2461 agctttttct ttctagatgt attccccaac atgctcacat acacagatct ttccctttcc
     2521 ttactagacc tctctttagt ttaagataag tttagacagg agaaagtgta tgtaaactac
     2581 ctgaaaggat gacaatcaat acaatgacaa atatgccagt ttatttaatt tgtttaaaaa
     2641 aaaaaaggca gaaaacccac catgggaaaa taagcatttt ttaaaatctg aagttgctct
     2701 tttcctgtgt ggtctttggg aggagtctaa tacaaaaact gaaaaccttt ggtcctggga
     2761 atttattttc atggctgttg tcatggctga gtagtttttt gatgaattca atcaatgcag
     2821 agaacgcttt tagataaatc agaactctcc ttaaaatgca tttcaatcag aagcaaagta
     2881 cacccattat ttatgcagac atgtaaaaaa tctaaaaatt cttgcaatga gtagtataag
     2941 ccacctattt ttacttcctt ctctgaaata ttccagttaa ctcagcttgg gttctgtgct
     3001 cctcctctct tcctatagaa cactgtgcat accttgaata aagagcttat tatacta
//
