LOCUS       NM_147164               2038 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens ciliary neurotrophic factor receptor (CNTFR),
            transcript variant 1, mRNA.
ACCESSION   NM_147164
VERSION     NM_147164.3
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 2038)
  AUTHORS   Homma,H., Kobatake,N., Sekimoto,Y., Saito,M., Mochizuki,Y.,
            Okamoto,T., Nakazato,K., Nishiyama,T. and Kikuchi,N.
  TITLE     Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is
            Associated With Weightlifting Performance in Japanese Weightlifters
  JOURNAL   J Strength Cond Res 34 (11), 3037-3041 (2020)
   PUBMED   33105352
  REMARK    GeneRIF: Ciliary Neurotrophic Factor Receptor rs41274853
            Polymorphism Is Associated With Weightlifting Performance in
            Japanese Weightlifters.
REFERENCE   2  (bases 1 to 2038)
  AUTHORS   Fantone,S., Tossetta,G., Montironi,R., Senzacqua,M., Marzioni,D.
            and Mazzucchelli,R.
  TITLE     Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRalpha)
            signal through MAPK/ERK pathway in human prostate tissues: a
            morphological and biomolecular study
  JOURNAL   Eur J Histochem 64 (4), 3147 (2020)
   PUBMED   33131268
  REMARK    GeneRIF: Ciliary neurotrophic factor (CNTF) and its receptor
            (CNTFRalpha) signal through MAPK/ERK pathway in human prostate
            tissues: a morphological and biomolecular study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2038)
  AUTHORS   Kim,J.W., Marquez,C.P., Kostyrko,K., Koehne,A.L., Marini,K.,
            Simpson,D.R., Lee,A.G., Leung,S.G., Sayles,L.C., Shrager,J.,
            Ferrer,I., Paz-Ares,L., Gephart,M.H., Vicent,S., Cochran,J.R. and
            Sweet-Cordero,E.A.
  TITLE     Antitumor activity of an engineered decoy receptor targeting
            CLCF1-CNTFR signaling in lung adenocarcinoma
  JOURNAL   Nat Med 25 (11), 1783-1795 (2019)
   PUBMED   31700175
  REMARK    GeneRIF: we nominate blockade of CLCF1-CNTFR signaling as a novel
            therapeutic opportunity for lung adenocarcinoma and potentially for
            other tumor types in which CLCF1 is present in the tumor
            microenvironment.
REFERENCE   4  (bases 1 to 2038)
  AUTHORS   Gratacos,M., Escaramis,G., Bustamante,M., Saus,E., Aguera,Z.,
            Bayes,M., Cellini,E., de Cid,R., Fernandez-Aranda,F., Forcano,L.,
            Gonzalez,J.R., Gorwood,P., Hebebrand,J., Hinney,A., Mercader,J.M.,
            Nacmias,B., Ramoz,N., Ribases,M., Ricca,V., Romo,L., Sorbi,S.,
            Versini,A. and Estivill,X.
  TITLE     Role of the neurotrophin network in eating disorders'
            subphenotypes: body mass index and age at onset of the disease
  JOURNAL   J Psychiatr Res 44 (13), 834-840 (2010)
   PUBMED   20219210
  REMARK    GeneRIF: Data show that variants in CNTFR were significantly
            associated with a lower age at onset of the eating disorders.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2038)
  AUTHORS   De Mars,G., Windelinckx,A., Beunen,G., Delecluse,C., Lefevre,J. and
            Thomis,M.A.
  TITLE     Polymorphisms in the CNTF and CNTF receptor genes are associated
            with muscle strength in men and women
  JOURNAL   J Appl Physiol (1985) 102 (5), 1824-1831 (2007)
   PUBMED   17272411
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2038)
  AUTHORS   Robledo,O., Auguste,P., Coupey,L., Praloran,V., Chevalier,S.,
            Pouplard,A. and Gascan,H.
  TITLE     Binding interactions of leukemia inhibitory factor and ciliary
            neurotrophic factor with the different subunits of their high
            affinity receptors
  JOURNAL   J Neurochem 66 (4), 1391-1399 (1996)
   PUBMED   8627290
REFERENCE   7  (bases 1 to 2038)
  AUTHORS   Valenzuela,D.M., Rojas,E., Le Beau,M.M., Espinosa,R. 3rd,
            Brannan,C.I., McClain,J., Masiakowski,P., Ip,N.Y., Copeland,N.G.,
            Jenkins,N.A. et al.
  TITLE     Genomic organization and chromosomal localization of the human and
            mouse genes encoding the alpha receptor component for ciliary
            neurotrophic factor
  JOURNAL   Genomics 25 (1), 157-163 (1995)
   PUBMED   7774913
REFERENCE   8  (bases 1 to 2038)
  AUTHORS   Saggio,I., Paonessa,G., Gloaguen,I., Graziani,R., De Serio,A. and
            Laufer,R.
  TITLE     Nonradioactive receptor binding assay for ciliary neurotrophic
            factor
  JOURNAL   Anal Biochem 221 (2), 387-391 (1994)
   PUBMED   7810882
REFERENCE   9  (bases 1 to 2038)
  AUTHORS   Donaldson,D.H., Britt,D.E., Jones,C., Jackson,C.L. and Patterson,D.
  TITLE     Localization of the gene for the ciliary neurotrophic factor
            receptor (CNTFR) to human chromosome 9
  JOURNAL   Genomics 17 (3), 782-784 (1993)
   PUBMED   8244400
REFERENCE   10 (bases 1 to 2038)
  AUTHORS   Davis,S., Aldrich,T.H., Valenzuela,D.M., Wong,V.V., Furth,M.E.,
            Squinto,S.P. and Yancopoulos,G.D.
  TITLE     The receptor for ciliary neurotrophic factor
  JOURNAL   Science 253 (5015), 59-63 (1991)
   PUBMED   1648265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI829871.1, M73238.1,
            DB311865.1 and BM714356.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_147164.2.
            
            Summary: This gene encodes a member of the type 1 cytokine receptor
            family. The encoded protein is the ligand-specific component of a
            tripartite receptor for ciliary neurotrophic factor, which plays a
            critical role in neuronal cell survival, differentiation and gene
            expression. Binding of ciliary neurotrophic factor to the encoded
            protein recruits the transmembrane components of the receptor,
            gp130 and leukemia inhibitory factor receptor, facilitating signal
            transduction. Single nucleotide polymorphisms in this gene may be
            associated with variations in muscle strength, as well as early
            onset of eating disorders. Alternatively spliced transcript
            variants have been observed for this gene. [provided by RefSeq, May
            2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR3476690.932905.1, M73238.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378980.8/ ENSP00000368265.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                BI829871.1         14-31
            19-1584             M73238.1           1-1566
            1585-2037           DB311865.1         1-453               c
            2038-2038           BM714356.1         20-20               c
FEATURES             Location/Qualifiers
     source          1..2038
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..2038
                     /gene="CNTFR"
                     /note="ciliary neurotrophic factor receptor"
                     /db_xref="GeneID:1271"
                     /db_xref="HGNC:HGNC:2170"
                     /db_xref="MIM:118946"
     exon            1..170
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            171..281
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1400
                     /gene="CNTFR"
                     /note="CNTFR-alpha; CNTF receptor subunit alpha"
                     /codon_start=1
                     /product="ciliary neurotrophic factor receptor subunit
                     alpha preproprotein"
                     /protein_id="NP_671693.1"
                     /db_xref="CCDS:CCDS6558.1"
                     /db_xref="GeneID:1271"
                     /db_xref="HGNC:HGNC:2170"
                     /db_xref="MIM:118946"
                     /translation="MAAPVPWACCAVLAAAAAVVYAQRHSPQEAPHVQYERLGSDVTL
                     PCGTANWDAAVTWRVNGTDLAPDLLNGSQLVLHGLELGHSGLYACFHRDSWHLRHQVL
                     LHVGLPPREPVLSCRSNTYPKGFYCSWHLPTPTYIPNTFNVTVLHGSKIMVCEKDPAL
                     KNRCHIRYMHLFSTIKYKVSISVSNALGHNATAITFDEFTIVKPDPPENVVARPVPSN
                     PRRLEVTWQTPSTWPDPESFPLKFFLRYRPLILDQWQHVELSDGTAHTITDAYAGKEY
                     IIQVAAKDNEIGTWSDWSVAAHATPWTEEPRHLTTEAQAAETTTSTTSSLAPPPTTKI
                     CDPGELGSGGGPSAPFLVSVPITLALAAAAATASSLLI"
     exon            282..366
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            367..600
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            601..718
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            719..885
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1049
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1230
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1399
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..2038
                     /gene="CNTFR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2017..2022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNTFR"
                     /note="hexamer: ATTAAA"
     polyA_site      2038
                     /gene="CNTFR"
                     /note="major polyA site"
ORIGIN      
        1 gcagagcggg cggcggcggc ggcggcagcg gaggcggcgg ctccagccgg cgcggcgcga
       61 ggctcggcgg tgggatccgg cgggcggtgc tagctccgcg ctccctgcct cgctcgctgc
      121 cgggggcggt cggaaggcgc ggcgcgaagc ccgggtggcc cgagggcgcg actctagcct
      181 tgtcacctca tcttgccccc ttggttttgg aagtcctgaa gagttggtct ggaggaggag
      241 gaggacattg atgtgcttgg tgtgtggcca gtggtgaaga gatggctgct cctgtcccgt
      301 gggcctgctg tgctgtgctt gccgccgccg ccgcagttgt ctacgcccag agacacagtc
      361 cacaggaggc accccatgtg cagtacgagc gcctgggctc tgacgtgaca ctgccatgtg
      421 ggacagcaaa ctgggatgct gcggtgacgt ggcgggtaaa tgggacagac ctggcccctg
      481 acctgctcaa cggctctcag ctggtgctcc atggcctgga actgggccac agtggcctct
      541 acgcctgctt ccaccgtgac tcctggcacc tgcgccacca agtcctgctg catgtgggct
      601 tgccgccgcg ggagcctgtg ctcagctgcc gctccaacac ttaccccaag ggcttctact
      661 gcagctggca tctgcccacc cccacctaca ttcccaacac cttcaatgtg actgtgctgc
      721 atggctccaa aattatggtc tgtgagaagg acccagccct caagaaccgc tgccacattc
      781 gctacatgca cctgttctcc accatcaagt acaaggtctc cataagtgtc agcaatgccc
      841 tgggccacaa tgccacagct atcacctttg acgagttcac cattgtgaag cctgatcctc
      901 cagaaaatgt ggtagcccgg ccagtgccca gcaaccctcg ccggctggag gtgacgtggc
      961 agaccccctc gacctggcct gaccctgagt cttttcctct caagttcttt ctgcgctacc
     1021 gacccctcat cctggaccag tggcagcatg tggagctgtc cgacggcaca gcacacacca
     1081 tcacagatgc ctacgccggg aaggagtaca ttatccaggt ggcagccaag gacaatgaga
     1141 ttgggacatg gagtgactgg agcgtagccg cccacgctac gccctggact gaggaaccgc
     1201 gacacctcac cacggaggcc caggctgcgg agaccacgac cagcaccacc agctccctgg
     1261 cacccccacc taccacgaag atctgtgacc ctggggagct gggcagcggc gggggaccct
     1321 cggcaccctt cttggtcagc gtccccatca ctctggccct ggctgccgct gccgccactg
     1381 ccagcagtct cttgatctga gcccggcacc ccatgaggac atgcagagca cctgcagagg
     1441 agcaggaggc cggagctgag cctgcagacc ccggtttcta ttttgcacac gggcaggagg
     1501 accttttgca ttctcttcag acacaatttg tggagacccc ggcgggcccg ggcctgccgc
     1561 cccccagccc tgccgcacca agctggccct ccttcctccc tcaggggagg tgggccatgc
     1621 agctaaccca cccaccaaag accccctcac cctggcccct tgggctggac cctccaatgc
     1681 cagcgactcc caggagccct tgggggacgt gaggggagcc tctcacatcc gatttctcct
     1741 cctgccccag cctcctgtct atcccagggt ctctgttgcc accatcagat tataagctcc
     1801 tgatgctggg ggggcccagc catccccctc cccccagcac ccacaatttt cagtcccctc
     1861 ccctctgccc tgttttgtat acccctcccc tgaccctgct cctatcccac agtatttaat
     1921 gccctgtcag tcccttctag tctgactcaa tggtaacttg ctgtatttga attttttata
     1981 gatgtatata cagggtgggg ggagtgggcg gttctcatta aacgtcacca tttcatga
//
