LOCUS       NM_014009               2264 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.
ACCESSION   NM_014009
VERSION     NM_014009.4
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 2264)
  AUTHORS   Ichiyama,K., Long,J., Kobayashi,Y., Horita,Y., Kinoshita,T.,
            Nakamura,Y., Kominami,C., Georgopoulos,K. and Sakaguchi,S.
  TITLE     Transcription factor Ikzf1 associates with Foxp3 to repress gene
            expression in Treg cells and limit autoimmunity and anti-tumor
            immunity
  JOURNAL   Immunity 57 (9), 2043-2060 (2024)
   PUBMED   39111316
  REMARK    GeneRIF: Transcription factor Ikzf1 associates with Foxp3 to
            repress gene expression in Treg cells and limit autoimmunity and
            anti-tumor immunity.
REFERENCE   2  (bases 1 to 2264)
  AUTHORS   Akimova,T., Wang,L., Bartosh,Z., Christensen,L.M., Eruslanov,E.,
            Singhal,S., Aishwarya,V. and Hancock,W.W.
  TITLE     Antisense targeting of FOXP3+ Tregs to boost anti-tumor immunity
  JOURNAL   Front Immunol 15, 1426657 (2024)
   PUBMED   39234236
  REMARK    GeneRIF: Antisense targeting of FOXP3+ Tregs to boost anti-tumor
            immunity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2264)
  AUTHORS   Zhang,H., Ly,A., Chou,E., Wang,L., Zhang,P., Prado,K., Gu,Y.,
            Pellegrini,M. and Chin,A.I.
  TITLE     Role of Forkhead Box P3 in IFNgamma-Mediated PD-L1 Expression and
            Bladder Cancer Epithelial-to-Mesenchymal Transition
  JOURNAL   Cancer Res Commun 4 (8), 2228-2241 (2024)
   PUBMED   39099201
  REMARK    GeneRIF: Role of Forkhead Box P3 in IFNgamma-Mediated PD-L1
            Expression and Bladder Cancer Epithelial-to-Mesenchymal Transition.
REFERENCE   4  (bases 1 to 2264)
  AUTHORS   Lepore,M.T., Bruzzaniti,S., La Rocca,C., Fusco,C., Carbone,F.,
            Mottola,M., Zuccarelli,B., Lanzillo,R., Brescia Morra,V.,
            Maniscalco,G.T., De Simone,S., Procaccini,C., Porcellini,A., De
            Rosa,V., Galgani,M., Cassano,S. and Matarese,G.
  TITLE     Deciphering the role of protein kinase A in the control of FoxP3
            expression in regulatory T cells in health and autoimmunity
  JOURNAL   Sci Rep 14 (1), 17571 (2024)
   PUBMED   39080325
  REMARK    GeneRIF: Deciphering the role of protein kinase A in the control of
            FoxP3 expression in regulatory T cells in health and autoimmunity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2264)
  AUTHORS   Achilla,C., Chorti,A., Papavramidis,T., Angelis,L. and
            Chatzikyriakidou,A.
  TITLE     Genetic and Epigenetic Association of FOXP3 with Papillary Thyroid
            Cancer Predisposition
  JOURNAL   Int J Mol Sci 25 (13), 7161 (2024)
   PUBMED   39000267
  REMARK    GeneRIF: Genetic and Epigenetic Association of FOXP3 with Papillary
            Thyroid Cancer Predisposition.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2264)
  AUTHORS   Bennett,C.L., Christie,J., Ramsdell,F., Brunkow,M.E.,
            Ferguson,P.J., Whitesell,L., Kelly,T.E., Saulsbury,F.T.,
            Chance,P.F. and Ochs,H.D.
  TITLE     The immune dysregulation, polyendocrinopathy, enteropathy, X-linked
            syndrome (IPEX) is caused by mutations of FOXP3
  JOURNAL   Nat Genet 27 (1), 20-21 (2001)
   PUBMED   11137993
REFERENCE   7  (bases 1 to 2264)
  AUTHORS   Wildin,R.S., Ramsdell,F., Peake,J., Faravelli,F., Casanova,J.L.,
            Buist,N., Levy-Lahad,E., Mazzella,M., Goulet,O., Perroni,L.,
            Bricarelli,F.D., Byrne,G., McEuen,M., Proll,S., Appleby,M. and
            Brunkow,M.E.
  TITLE     X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy
            syndrome is the human equivalent of mouse scurfy
  JOURNAL   Nat Genet 27 (1), 18-20 (2001)
   PUBMED   11137992
REFERENCE   8  (bases 1 to 2264)
  AUTHORS   Chatila,T.A., Blaeser,F., Ho,N., Lederman,H.M., Voulgaropoulos,C.,
            Helms,C. and Bowcock,A.M.
  TITLE     JM2, encoding a fork head-related protein, is mutated in X-linked
            autoimmunity-allergic disregulation syndrome
  JOURNAL   J Clin Invest 106 (12), R75-R81 (2000)
   PUBMED   11120765
REFERENCE   9  (bases 1 to 2264)
  AUTHORS   Bennett,C.L., Yoshioka,R., Kiyosawa,H., Barker,D.F., Fain,P.R.,
            Shigeoka,A.O. and Chance,P.F.
  TITLE     X-Linked syndrome of polyendocrinopathy, immune dysfunction, and
            diarrhea maps to Xp11.23-Xq13.3
  JOURNAL   Am J Hum Genet 66 (2), 461-468 (2000)
   PUBMED   10677306
REFERENCE   10 (bases 1 to 2264)
  AUTHORS   Tan,Q.K.G., Louie,R.J. and Sleasman,J.W.
  TITLE     IPEX Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301297
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF277993.1, DB342786.1 and
            BQ184335.1.
            
            On Aug 31, 2019 this sequence version replaced NM_014009.3.
            
            Summary: The protein encoded by this gene is a member of the
            forkhead/winged-helix family of transcriptional regulators. Defects
            in this gene are the cause of immunodeficiency polyendocrinopathy,
            enteropathy, X-linked syndrome (IPEX), also known as X-linked
            autoimmunity-immunodeficiency syndrome. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, and encodes the longer isoform (a).
            
            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 :: AK292052.1, AF277993.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376207.10/ ENSP00000365380.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1753              AF277993.1         117-1869
            1754-2117           DB342786.1         148-511             c
            2118-2264           BQ184335.1         18-164              c
FEATURES             Location/Qualifiers
     source          1..2264
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2264
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /note="forkhead box P3"
                     /db_xref="GeneID:50943"
                     /db_xref="HGNC:HGNC:6106"
                     /db_xref="MIM:300292"
     exon            1..50
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            51..282
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1368
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /note="isoform a is encoded by transcript variant 1;
                     immunodeficiency, polyendocrinopathy, enteropathy,
                     X-linked; immune dysregulation, polyendocrinopathy,
                     enteropathy, X-linked; forkhead box protein P3;
                     FOXP3delta7"
                     /codon_start=1
                     /product="forkhead box protein P3 isoform a"
                     /protein_id="NP_054728.2"
                     /db_xref="CCDS:CCDS14323.1"
                     /db_xref="GeneID:50943"
                     /db_xref="HGNC:HGNC:6106"
                     /db_xref="MIM:300292"
                     /translation="MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGT
                     FQGRDLRGGAHASSSSLNPMPPSQLQLPTLPLVMVAPSGARLGPLPHLQALLQDRPHF
                     MHQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEW
                     VSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHC
                     QADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSD
                     KGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFH
                     NMRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLH
                     KCFVRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP"
     exon            283..387
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            388..526
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            527..614
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            615..719
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            720..807
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            808..888
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1039
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1116
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1218
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..2264
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2241..2246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /note="hexamer: AATAAA"
     polyA_site      2264
                     /gene="FOXP3"
                     /gene_synonym="AIID; DIETER; IPEX; JM2; PIDX; XPID"
                     /note="major polyA site"
ORIGIN      
        1 agtttcccac aagccaggct gatccttttc tgtcagtcca cttcaccaag cctgcccttg
       61 gacaaggacc cgatgcccaa ccccaggcct ggcaagccct cggccccttc cttggccctt
      121 ggcccatccc caggagcctc gcccagctgg agggctgcac ccaaagcctc agacctgctg
      181 ggggcccggg gcccaggggg aaccttccag ggccgagatc ttcgaggcgg ggcccatgcc
      241 tcctcttctt ccttgaaccc catgccacca tcgcagctgc agctgcccac actgccccta
      301 gtcatggtgg caccctccgg ggcacggctg ggccccttgc cccacttaca ggcactcctc
      361 caggacaggc cacatttcat gcaccagctc tcaacggtgg atgcccacgc ccggacccct
      421 gtgctgcagg tgcaccccct ggagagccca gccatgatca gcctcacacc acccaccacc
      481 gccactgggg tcttctccct caaggcccgg cctggcctcc cacctgggat caacgtggcc
      541 agcctggaat gggtgtccag ggagccggca ctgctctgca ccttcccaaa tcccagtgca
      601 cccaggaagg acagcaccct ttcggctgtg ccccagagct cctacccact gctggcaaat
      661 ggtgtctgca agtggcccgg atgtgagaag gtcttcgaag agccagagga cttcctcaag
      721 cactgccagg cggaccatct tctggatgag aagggcaggg cacaatgtct cctccagaga
      781 gagatggtac agtctctgga gcagcagctg gtgctggaga aggagaagct gagtgccatg
      841 caggcccacc tggctgggaa aatggcactg accaaggctt catctgtggc atcatccgac
      901 aagggctcct gctgcatcgt agctgctggc agccaaggcc ctgtcgtccc agcctggtct
      961 ggcccccggg aggcccctga cagcctgttt gctgtccgga ggcacctgtg gggtagccat
     1021 ggaaacagca cattcccaga gttcctccac aacatggact acttcaagtt ccacaacatg
     1081 cgaccccctt tcacctacgc cacgctcatc cgctgggcca tcctggaggc tccagagaag
     1141 cagcggacac tcaatgagat ctaccactgg ttcacacgca tgtttgcctt cttcagaaac
     1201 catcctgcca cctggaagaa cgccatccgc cacaacctga gtctgcacaa gtgctttgtg
     1261 cgggtggaga gcgagaaggg ggctgtgtgg accgtggatg agctggagtt ccgcaagaaa
     1321 cggagccaga ggcccagcag gtgttccaac cctacacctg gcccctgacc tcaagatcaa
     1381 ggaaaggagg atggacgaac aggggccaaa ctggtgggag gcagaggtgg tgggggcagg
     1441 gatgataggc cctggatgtg cccacaggga ccaagaagtg aggtttccac tgtcttgcct
     1501 gccagggccc ctgttccccc gctggcagcc accccctccc ccatcatatc ctttgcccca
     1561 aggctgctca gaggggcccc ggtcctggcc ccagccccca cctccgcccc agacacaccc
     1621 cccagtcgag ccctgcagcc aaacagagcc ttcacaacca gccacacaga gcctgcctca
     1681 gctgctcgca cagattactt cagggctgga aaagtcacac agacacacaa aatgtcacaa
     1741 tcctgtccct cactcaacac aaaccccaaa acacagagag cctgcctcag tacactcaaa
     1801 caacctcaaa gctgcatcat cacacaatca cacacaagca cagccctgac aacccacaca
     1861 ccccaaggca cgcacccaca gccagcctca gggcccacag gggcactgtc aacacagggg
     1921 tgtgcccaga ggcctacaca gaagcagcgt cagtaccctc aggatctgag gtcccaacac
     1981 gtgctcgctc acacacacgg cctgttagaa ttcacctgtg tatctcacgc atatgcacac
     2041 gcacagcccc ccagtgggtc tcttgagtcc cgtgcagaca cacacagcca cacacactgc
     2101 cttgccaaaa ataccccgtg tctcccctgc cactcacctc actcccattc cctgagccct
     2161 gatccatgcc tcagcttaga ctgcagagga actactcatt tatttgggat ccaaggcccc
     2221 caacccacag taccgtcccc aataaactgc agccgagctc ccca
//
