LOCUS       NM_001323043            3657 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens putative homeodomain transcription factor 1 (PHTF1),
            transcript variant 4, mRNA.
ACCESSION   NM_001323043 XM_005270384
VERSION     NM_001323043.2
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 3657)
  AUTHORS   Wade,T.D., Gordon,S., Medland,S., Bulik,C.M., Heath,A.C.,
            Montgomery,G.W. and Martin,N.G.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   2  (bases 1 to 3657)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   3  (bases 1 to 3657)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 3657)
  AUTHORS   Eriksson,N., Tung,J.Y., Kiefer,A.K., Hinds,D.A., Francke,U.,
            Mountain,J.L. and Do,C.B.
  TITLE     Novel associations for hypothyroidism include known autoimmune risk
            loci
  JOURNAL   PLoS One 7 (4), e34442 (2012)
   PUBMED   22493691
REFERENCE   5  (bases 1 to 3657)
  AUTHORS   Douroudis,K., Kisand,K., Nemvalts,V., Rajasalu,T. and Uibo,R.
  TITLE     Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as
            candidate susceptibility factors for the type 1 diabetes in the
            Estonian population
  JOURNAL   BMC Med Genet 11, 11 (2010)
   PUBMED   20089178
  REMARK    GeneRIF: Results supports the rs6679677 (PHTF1-PTPN22) SNP as a
            susceptibility factor for type 1 diabetes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3657)
  AUTHORS   Todd,J.A., Walker,N.M., Cooper,J.D., Smyth,D.J., Downes,K.,
            Plagnol,V., Bailey,R., Nejentsev,S., Field,S.F., Payne,F.,
            Lowe,C.E., Szeszko,J.S., Hafler,J.P., Zeitels,L., Yang,J.H.,
            Vella,A., Nutland,S., Stevens,H.E., Schuilenburg,H., Coleman,G.,
            Maisuria,M., Meadows,W., Smink,L.J., Healy,B., Burren,O.S.,
            Lam,A.A., Ovington,N.R., Allen,J., Adlem,E., Leung,H.T.,
            Wallace,C., Howson,J.M., Guja,C., Ionescu-Tirgoviste,C.,
            Simmonds,M.J., Heward,J.M., Gough,S.C., Dunger,D.B., Wicker,L.S.
            and Clayton,D.G.
  CONSRTM   Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control
            Consortium
  TITLE     Robust associations of four new chromosome regions from genome-wide
            analyses of type 1 diabetes
  JOURNAL   Nat Genet 39 (7), 857-864 (2007)
   PUBMED   17554260
REFERENCE   7  (bases 1 to 3657)
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study of 14,000 cases of seven common
            diseases and 3,000 shared controls
  JOURNAL   Nature 447 (7145), 661-678 (2007)
   PUBMED   17554300
REFERENCE   8  (bases 1 to 3657)
  AUTHORS   Manuel,A., Beaupain,D., Romeo,P.H. and Raich,N.
  TITLE     Molecular characterization of a novel gene family (PHTF) conserved
            from Drosophila to mammals
  JOURNAL   Genomics 64 (2), 216-220 (2000)
   PUBMED   10729229
REFERENCE   9  (bases 1 to 3657)
  AUTHORS   Raich,N., Mattei,M.G., Romeo,P.H. and Beaupain,D.
  TITLE     PHTF, a novel atypical homeobox gene on chromosome 1p13, is
            evolutionarily conserved
  JOURNAL   Genomics 59 (1), 108-109 (1999)
   PUBMED   10395808
REFERENCE   10 (bases 1 to 3657)
  AUTHORS   Siegele,D.A. and Kolter,R.
  TITLE     Life after log
  JOURNAL   J Bacteriol 174 (2), 345-348 (1992)
   PUBMED   1729229
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL365321.16 and AL133517.11.
            
            On Nov 23, 2018 this sequence version replaced NM_001323043.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1660807.228292.1,
                                           SRR1803616.231966.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369604.6/ ENSP00000358617.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-464               AL365321.16        5002-5465           c
            465-539             AL365321.16        4638-4712           c
            540-596             AL365321.16        3678-3734           c
            597-666             AL133517.11        17222-17291
            667-825             AL133517.11        17753-17911
            826-982             AL133517.11        29447-29603
            983-1117            AL133517.11        31128-31262
            1118-1277           AL133517.11        42583-42742
            1278-1451           AL133517.11        43908-44081
            1452-1541           AL133517.11        44186-44275
            1542-1763           AL133517.11        45546-45767
            1764-1892           AL133517.11        49299-49427
            1893-2165           AL133517.11        49859-50131
            2166-2297           AL133517.11        51224-51355
            2298-2384           AL133517.11        51854-51940
            2385-2540           AL133517.11        55072-55227
            2541-2636           AL133517.11        56222-56317
            2637-2762           AL133517.11        57634-57759
            2763-3657           AL133517.11        58296-59190
FEATURES             Location/Qualifiers
     source          1..3657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.2"
     gene            1..3657
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /note="putative homeodomain transcription factor 1"
                     /db_xref="GeneID:10745"
                     /db_xref="HGNC:HGNC:8939"
                     /db_xref="MIM:604950"
     exon            1..464
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            465..539
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     CDS             495..2783
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /note="isoform a is encoded by transcript variant 4;
                     protein PHTF1"
                     /codon_start=1
                     /product="protein PHTF1 isoform a"
                     /protein_id="NP_001309972.1"
                     /db_xref="CCDS:CCDS861.1"
                     /db_xref="GeneID:10745"
                     /db_xref="HGNC:HGNC:8939"
                     /db_xref="MIM:604950"
                     /translation="MASNERDAISWYQKKIGAYDQQIWEKSIEQTQIKGLKNKPKKMG
                     HIKPDLIDVDLIRGSTFAKAKPEIPWTSLTRKGLVRVVFFPLFSNWWIQVTSLRIFVW
                     LLLLYFMQVIAIVLYLMMPIVNISEVLGPLCLMLLMGTVHCQIVSTQITRPSGNNGNR
                     RRRKLRKTVNGDGSRENGNNSSDKVRGIETLESVPIIGGFWETIFGNRIKRVKLISNK
                     GTETDNDPSCVHPIIKRRQCRPEIRMWQTREKAKFSDGEKCRREAFRRLGNGVSDDLS
                     SEEDGEARTQMILLRRSVEGASSDNGCEVKNRKSILSRHLNSQVKKTTTRWCHIVRDS
                     DSLAESEFESAAFSQGSRSGVSGGSRSLNMSRRDSESTRHDSETEDMLWDDLLHGPEC
                     RSSVTSDSEGAHVNTLHSGTKRDPKEDVFQQNHLFWLQNSSPSSDRVSAIIWEGNECK
                     KMDMSVLEISGIIMSRVNAYQQGVGYQMLGNVVTIGLAFFPFLHRLFREKSLDQLKSI
                     SAEEILTLFCGAPPVTPIIVLSIINFFERLCLTWMFFFMMCVAERTYKQRFLFAKLFS
                     HITSARKARKYEIPHFRLKKVENIKIWLSLRSYLKRRGPQRSVDVVVSSVFLLTLSIA
                     FICCAQVLQGHKTFLNDAYNWEFLIWETALLLFLLRLASLGSETNKKYSNVSILLTEQ
                     INLYLKMEKKPNKKEQLTLVNNVLKLSTKLLKELDTPFRLYGLTMNPLIYNITRVVIL
                     SAVSGVISDLLGFNIRLWKIKS"
     exon            540..596
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            597..666
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            667..825
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            826..982
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1117
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1277
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1451
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1541
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1763
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1892
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..2165
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2166..2297
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2298..2384
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2385..2540
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2541..2636
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2637..2762
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     exon            2763..3657
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3260..3265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /note="hexamer: AATAAA"
     polyA_site      3279
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /note="major polyA site"
     regulatory      3631..3636
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
                     /note="hexamer: ATTAAA"
     polyA_site      3657
                     /gene="PHTF1"
                     /gene_synonym="PHTF"
ORIGIN      
        1 agacggctga gtcactgcat cccggcgcgg cccgcagaag acgagcgccg ctgccgccgc
       61 ctcctcctcc cgggctcccg ggctctcggg gtccggggcc tttgcacctg tcttttccag
      121 ctgggcacaa agccttttgc tgtcgccgtg gcgactggag gccttcactt ttaatccccc
      181 tcattttcca gttcattctc tgcttatttt ctggtcagtc cgtgaccctg taggcggcct
      241 ctgaccggcg atcgatttgc cgccctcagg gcgctgggcg gccggctgcc tccgaagctg
      301 gggcggcctc cgcggtctcc atggtaacgg cctctccggc gtctccgcct ggaggggaag
      361 atgcggcctg cctggcccgc cgcctcgccc ccggcctcac ggtgggaccc cgggcactga
      421 ggacggaggt cccgggcgcc ggcccgcggg gcaacgggca ctagtgaaat cccattctct
      481 ggctggagac acagatggcc tcaaatgaga gagatgctat atcgtggtac caaaagaaga
      541 ttggagccta cgatcagcag atatgggaaa agtcaatcga acagactcag attaagggtt
      601 tgaaaaacaa accgaaaaag atgggccaca taaagccaga cttgattgac gttgacttaa
      661 tcagagggtc aacatttgcc aaagcaaaac ctgaaattcc atggacatct ctgactcgga
      721 aggggcttgt tcgagttgta ttttttccat tgttcagcaa ttggtggatt caggttacct
      781 ctttaagaat ctttgtttgg ctgttactac tttatttcat gcaagttata gcaattgtct
      841 tatatttgat gatgcctatt gtgaacataa gtgaagtact tggacccttg tgccttatgc
      901 tactcatggg aactgtccac tgtcaaattg tgtctactca gataacaaga ccatcaggaa
      961 acaatggaaa tcgaagaaga agaaaattac gaaaaactgt aaatggtgat gggagccgag
     1021 aaaatggaaa taactcctct gataaagtca gaggaataga aactttggaa tctgtaccca
     1081 ttattggtgg tttttgggag actatctttg gcaacaggat taaaagagta aaattaatat
     1141 ctaacaaagg gactgaaact gacaatgacc caagttgtgt ccatcctatc attaagagga
     1201 gacaatgtcg accagagatt agaatgtggc aaacaagaga gaaagcaaaa ttttcagatg
     1261 gagaaaagtg ccgtagggag gcttttaggc gtttgggtaa tggggtgtct gatgacctgt
     1321 caagtgaaga agatggtgaa gcacggacac agatgatatt attgcgtagg agtgtggaag
     1381 gggcctcaag tgacaatggt tgtgaagtta agaatagaaa atcaatactt tcaaggcacc
     1441 taaactctca ggtaaagaaa accactacaa ggtggtgtca tattgtgcgg gattcagata
     1501 gtctggctga atcagaattt gaatcagcag ccttcagcca gggctctaga tcgggtgtga
     1561 gtggtggctc tcgaagcctc aacatgtcaa gaagagactc agaaagcacc cgccatgact
     1621 cggagactga ggacatgtta tgggacgacc tgctacatgg cccagagtgc cggtcatctg
     1681 tcaccagtga cagtgagggg gcccatgtga atacccttca ctcagggacc aaacgtgacc
     1741 ccaaagagga tgtttttcag cagaatcatt tattctggct tcagaattca agtccttcct
     1801 ctgatcgagt tagtgcaata atctgggagg ggaatgagtg caaaaagatg gatatgtctg
     1861 tgttggaaat aagtggcatc atcatgagca gggtcaatgc ctatcagcaa ggagtaggtt
     1921 atcagatgct gggaaatgtt gtcactattg gattagcatt ttttccattc ttacatcgac
     1981 ttttccgtga gaagagcctt gaccaactaa agtccatttc agctgaggag atcttgactc
     2041 tcttttgtgg ggcaccacct gttacaccta ttattgtttt gtcgataatt aatttttttg
     2101 aaagattgtg tcttacttgg atgttttttt tcatgatgtg tgtggcagag agaacatata
     2161 aacagagatt tttatttgca aaactcttca gccatattac ttctgccagg aaagctagga
     2221 aatatgaaat acctcatttc agacttaaga aggtggagaa tattaaaata tggttatcac
     2281 tgcgttccta tctaaagaga cgggggccac agcgttcagt tgatgtggtt gtatcctcgg
     2341 ttttcctact gacactttcg attgctttca tttgttgtgc tcaggttctc caaggacata
     2401 aaactttcct gaatgatgct tataactggg agtttttgat ctgggaaaca gctttactac
     2461 tttttttatt gcgtctggcc tcactggggt ctgaaaccaa taagaaatac agcaatgttt
     2521 caatattact tacagaacag attaatttat atcttaagat ggaaaaaaag ccaaataaga
     2581 aagaacagct tactctagta aacaatgtat taaagctgtc caccaagttg ttgaaagagc
     2641 tggacacacc atttagactc tatggactga caatgaatcc cttaatctac aatatcacaa
     2701 gagtagttat cctttctgct gtctcaggtg ttataagtga tcttctagga tttaatataa
     2761 gactgtggaa aattaaatca taagctgagt aaatgcctgg actctcccct ggctggtatc
     2821 aaaacttacc tatcaaggaa agtgatgact gcagaaacca gtgagatacc cacctgcttg
     2881 ttcacatgca caggtgctct cagctctgcc aaagcgaatg aatggtgttt ccggaggagc
     2941 aagtcctttt ccaactgggt gtgcatgcta aaaacctgta ttttcatgct tttcaaacaa
     3001 catgaatagt cagctgacta aagactgtgt gtgttgtggt aacacaaaga caattttgta
     3061 agtttgcgct tcagtactgt gacagttatg tttactggac atagtctttt gggcaactat
     3121 gatagatgcc caaagcatga agcaaatatc ttttattgga aatatgcaaa ttcaatactt
     3181 ttccattata gtctatagaa ctggagattt catttctcta tcaaagagag atcaagcgaa
     3241 ctattttagg ttaaatccga ataaaagaac tttactggag actttcagtt tctaggtttt
     3301 ctttgttgtt gaaggaagaa aattaacttt taaactgtga gtttctgtta aactgtggag
     3361 aaatgttttg ttcgtttacg attttgggtt aataactgta tagttgttgg caaacgatgc
     3421 atgcatacaa tatgccatgt aattcagcat gaaaaattta agtatatgcc tactcatcca
     3481 tttccatcat acaacatggt ttccacgttc tatgtggaag ccatggaagc attgtttcca
     3541 tatagatcat ctgagttgtg gttcctaaca cagtgctatg tgtcctatca caagcatcat
     3601 tgatagttta tcagttgtgc aacttaatgt attaaaccct ccgtacattt tcaggtc
//
