LOCUS       NM_001386993            3500 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens CCCTC-binding factor like (CTCFL), transcript variant
            18, mRNA.
ACCESSION   NM_001386993
VERSION     NM_001386993.1
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 3500)
  AUTHORS   Wei,L., Liu,Z., Qin,L., Xian,L., Chen,K., Zhou,S., Hu,L., Xiong,Y.,
            Li,B. and Qin,Y.
  TITLE     BORIS variant SF2(C2/A4) promotes the malignant development of
            liver cancer by activating epithelial-mesenchymal transition and
            hepatic stellate cells
  JOURNAL   Mol Carcinog 62 (6), 731-742 (2023)
   PUBMED   36929051
  REMARK    GeneRIF: BORIS variant SF2(C2/A4) promotes the malignant
            development of liver cancer by activating epithelial-mesenchymal
            transition and hepatic stellate cells.
REFERENCE   2  (bases 1 to 3500)
  AUTHORS   Akhtar,M.S., Akhter,N., Talat,A., Alharbi,R.A., Sindi,A.A.A.,
            Klufah,F., Alyahyawi,H.E., Alruwetei,A., Ahmad,A., Zamzami,M.A.,
            Deo,S., Husain,S.A., Badi,O.A. and Khan,M.J.
  TITLE     Association of mutation and expression of the brother of the
            regulator of imprinted sites (BORIS) gene with breast cancer
            progression
  JOURNAL   Oncotarget 14, 528-541 (2023)
   PUBMED   37235839
  REMARK    GeneRIF: Association of mutation and expression of the brother of
            the regulator of imprinted sites (BORIS) gene with breast cancer
            progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3500)
  AUTHORS   Moscona,R., Janssen,S.M., Elchebly,M., Papadakis,A.I., Rubin,E. and
            Spatz,A.
  TITLE     BORIS/CTCFL-mediated chromatin accessibility alterations promote a
            pro-invasive transcriptional signature in melanoma cells
  JOURNAL   Pigment Cell Melanoma Res 36 (3-4), 299-313 (2023)
   PUBMED   37082838
  REMARK    GeneRIF: BORIS/CTCFL-mediated chromatin accessibility alterations
            promote a pro-invasive transcriptional signature in melanoma cells.
REFERENCE   4  (bases 1 to 3500)
  AUTHORS   Rao,G.K., Makani,V.K.K., Mendonza,J.J., Edathara,P.M., Patel,N.,
            Ramakrishna,M., Cilamkoti,P., Chiring Phukon,J., Jose,J., Bhadra,U.
            and Bhadra,M.P.
  TITLE     Downregulation of BORIS/CTCFL leads to ROS-dependent cellular
            senescence and drug sensitivity in MYCN-amplified neuroblastoma
  JOURNAL   FEBS J 289 (10), 2915-2934 (2022)
   PUBMED   34854238
  REMARK    GeneRIF: Downregulation of BORIS/CTCFL leads to ROS-dependent
            cellular senescence and drug sensitivity in MYCN-amplified
            neuroblastoma.
REFERENCE   5  (bases 1 to 3500)
  AUTHORS   Salgado-Albarran,M., Spath,J., Gonzalez-Barrios,R., Baumbach,J. and
            Soto-Reyes,E.
  TITLE     CTCFL regulates the PI3K-Akt pathway and it is a target for
            personalized ovarian cancer therapy
  JOURNAL   NPJ Syst Biol Appl 8 (1), 5 (2022)
   PUBMED   35132075
  REMARK    GeneRIF: CTCFL regulates the PI3K-Akt pathway and it is a target
            for personalized ovarian cancer therapy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3500)
  AUTHORS   Hoffmann,M.J., Muller,M., Engers,R. and Schulz,W.A.
  TITLE     Epigenetic control of CTCFL/BORIS and OCT4 expression in urogenital
            malignancies
  JOURNAL   Biochem Pharmacol 72 (11), 1577-1588 (2006)
   PUBMED   16854382
  REMARK    GeneRIF: The lack of hypomethylation in the CFCFL promoter
            reinforces evidence that 'genome-wide' hypomethylation is not
            random.
REFERENCE   7  (bases 1 to 3500)
  AUTHORS   Hong,J.A., Kang,Y., Abdullaev,Z., Flanagan,P.T., Pack,S.D.,
            Fischette,M.R., Adnani,M.T., Loukinov,D.I., Vatolin,S.,
            Risinger,J.I., Custer,M., Chen,G.A., Zhao,M., Nguyen,D.M.,
            Barrett,J.C., Lobanenkov,V.V. and Schrump,D.S.
  TITLE     Reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter
            coincides with derepression of this cancer-testis gene in lung
            cancer cells
  JOURNAL   Cancer Res 65 (17), 7763-7774 (2005)
   PUBMED   16140944
  REMARK    GeneRIF: Data indicate that reciprocal binding of CTCF and BORIS to
            the NY-ESO-1 promoter mediates epigenetic regulation of this CT
            gene in lung cancer cells.
REFERENCE   8  (bases 1 to 3500)
  AUTHORS   Klenova,E.M., Morse,H.C. 3rd, Ohlsson,R. and Lobanenkov,V.V.
  TITLE     The novel BORIS + CTCF gene family is uniquely involved in the
            epigenetics of normal biology and cancer
  JOURNAL   Semin Cancer Biol 12 (5), 399-414 (2002)
   PUBMED   12191639
  REMARK    Review article
REFERENCE   9  (bases 1 to 3500)
  AUTHORS   Loukinov,D.I., Pugacheva,E., Vatolin,S., Pack,S.D., Moon,H.,
            Chernukhin,I., Mannan,P., Larsson,E., Kanduri,C., Vostrov,A.A.,
            Cui,H., Niemitz,E.L., Rasko,J.E., Docquier,F.M., Kistler,M.,
            Breen,J.J., Zhuang,Z., Quitschke,W.W., Renkawitz,R., Klenova,E.M.,
            Feinberg,A.P., Ohlsson,R., Morse,H.C. 3rd and Lobanenkov,V.V.
  TITLE     BORIS, a novel male germ-line-specific protein associated with
            epigenetic reprogramming events, shares the same 11-zinc-finger
            domain with CTCF, the insulator protein involved in reading
            imprinting marks in the soma
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6806-6811 (2002)
   PUBMED   12011441
REFERENCE   10 (bases 1 to 3500)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035541.15 and AL160176.3.
            
            Summary: CCCTC-binding factor (CTCF), an 11-zinc-finger factor
            involved in gene regulation, utilizes different zinc fingers to
            bind varying DNA target sites. CTCF forms methylation-sensitive
            insulators that regulate X-chromosome inactivation. This gene is a
            paralog of CTCF and appears to be expressed primarily in the
            cytoplasm of spermatocytes, unlike CTCF which is expressed
            primarily in the nucleus of somatic cells. CTCF and the protein
            encoded by this gene are normally expressed in a mutually exclusive
            pattern that correlates with resetting of methylation marks during
            male germ cell differentiation. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2012].
            
            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 :: AK313990.1, AK128070.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000243914.8/ ENSP00000243914.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AL035541.15        871-983             c
            114-667             AL160176.3         56318-56871         c
            668-878             AL160176.3         55723-55933         c
            879-1049            AL160176.3         51862-52032         c
            1050-1183           AL160176.3         51413-51546         c
            1184-1304           AL160176.3         48369-48489         c
            1305-1454           AL160176.3         47247-47396         c
            1455-1615           AL160176.3         45247-45407         c
            1616-1798           AL160176.3         41261-41443         c
            1799-1964           AL160176.3         36091-36256         c
            1965-3500           AL160176.3         29821-31356         c
FEATURES             Location/Qualifiers
     source          1..3500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     gene            1..3500
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /note="CCCTC-binding factor like"
                     /db_xref="GeneID:140690"
                     /db_xref="HGNC:HGNC:16234"
                     /db_xref="MIM:607022"
     exon            1..113
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            114..667
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..2116
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /note="isoform 1 is encoded by transcript variant 18;
                     cancer/testis antigen 27; brother of the regulator of
                     imprinted sites; BORIS-like protein"
                     /codon_start=1
                     /product="transcriptional repressor CTCFL isoform 1"
                     /protein_id="NP_001373922.1"
                     /db_xref="CCDS:CCDS13459.1"
                     /db_xref="GeneID:140690"
                     /db_xref="HGNC:HGNC:16234"
                     /db_xref="MIM:607022"
                     /translation="MAATEISVLSEQFTKIKELELMPEKGLKEEEKDGVCREKDHRSP
                     SELEAERTSGAFQDSVLEEEVELVLAPSEESEKYILTLQTVHFTSEAVELQDMSLLSI
                     QQQEGVQVVVQQPGPGLLWLEEGPRQSLQQCVAISIQQELYSPQEMEVLQFHALEENV
                     MVASEDSKLAVSLAETTGLIKLEEEQEKNQLLAERTKEQLFFVETMSGDERSDEIVLT
                     VSNSNVEEQEDQPTAGQADAEKAKSTKNQRKTKGAKGTFHCDVCMFTSSRMSSFNRHM
                     KTHTSEKPHLCHLCLKTFRTVTLLRNHVNTHTGTRPYKCNDCNMAFVTSGELVRHRRY
                     KHTHEKPFKCSMCKYASVEASKLKRHVRSHTGERPFQCCQCSYASRDTYKLKRHMRTH
                     SGEKPYECHICHTRFTQSGTMKIHILQKHGENVPKYQCPHCATIIARKSDLRVHMRNL
                     HAYSAAELKCRYCSAVFHERYALIQHQKTHKNEKRFKCKHCSYACKQERHMTAHIRTH
                     TGEKPFTCLSCNKCFRQKQLLNAHFRKYHDANFIPTVYKCSKCGKGFSRWINLHRHSE
                     KCGSGEAKSAASGKGRRTRKRKQTILKEATKGQKEAAKGWKEAANGDEAAAEEASTTK
                     GEQFPGEMFPVACRETTARVKEEVDEGVTCEMLLNTMDK"
     exon            668..878
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1049
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1183
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1304
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1454
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1615
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1798
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..1964
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..3500
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3478..3483
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /note="hexamer: AATGAA"
     polyA_site      3500
                     /gene="CTCFL"
                     /gene_synonym="BORIS; CT27; CTCF-T; dJ579F20.2; HMGB1L1"
                     /note="major polyA site"
ORIGIN      
        1 actctcgcgc cagcccggcg gcggccggct gtgggctgca gcacgcggtg cacgaggcag
       61 agcccacaag ccaaagacgg agtgggccga gcattccggc cacgccttcc gcggccaagt
      121 cattatggca gccactgaga tctctgtcct ttctgagcaa ttcaccaaga tcaaagaact
      181 cgagttgatg ccggaaaaag gcctgaagga ggaggaaaaa gacggagtgt gcagagagaa
      241 agaccatcgg agccctagtg agttggaggc cgagcgtacc tctggggcct tccaggacag
      301 cgtcctggag gaagaagtgg agctggtgct ggccccctcg gaggagagcg agaagtacat
      361 cctgaccctg cagacggtgc acttcacttc tgaagctgtg gagttgcagg atatgagctt
      421 gctgagcata cagcagcaag aaggggtgca ggtggtggtg caacagcctg gccctgggtt
      481 gctgtggctt gaggaagggc cccggcagag cctgcagcag tgtgtggcca ttagtatcca
      541 gcaagagctg tactccccgc aagagatgga ggtgttgcag ttccacgctc tagaggagaa
      601 tgtgatggtg gccagtgaag acagtaagtt agcggtgagc ctggctgaaa ctactggact
      661 gatcaagctc gaggaagagc aggagaagaa ccagttattg gctgaaagaa caaaggagca
      721 gctctttttt gtggaaacaa tgtcaggaga tgaaagaagt gacgaaattg ttctcacagt
      781 ttcaaattca aatgtggaag aacaagagga tcaacctaca gctggtcaag cagatgctga
      841 aaaggccaaa tctacaaaaa atcaaagaaa gacaaaggga gcaaaaggaa ccttccactg
      901 tgatgtctgc atgttcacct cttctagaat gtcaagtttt aatcgtcata tgaaaactca
      961 caccagtgag aagcctcacc tgtgtcacct ctgcctgaaa accttccgta cggtcactct
     1021 gctgcggaac catgttaaca cccacacagg aaccaggccc tacaagtgta acgactgcaa
     1081 catggcattt gtcaccagtg gagaactcgt ccgacacagg cgctataaac atactcatga
     1141 gaaacccttt aaatgttcca tgtgcaagta tgccagtgtg gaggcaagta aattgaagcg
     1201 ccatgtccga tcccacactg gggagcgccc ctttcagtgt tgccagtgca gctatgccag
     1261 cagagatacc tacaagctga aacgccacat gagaacgcac tcaggtgaga agccttacga
     1321 atgccacatc tgccacaccc gcttcaccca gagcgggacc atgaaaatac atattctgca
     1381 gaaacacggc gaaaatgtcc ccaaatacca gtgtccccat tgtgccacca tcattgcacg
     1441 gaaaagcgac ctacgtgtgc atatgcgcaa cttgcatgct tacagcgctg cagagctgaa
     1501 atgccgctac tgttctgctg tcttccatga acgctatgcc ctcattcagc accagaaaac
     1561 tcataagaat gagaagaggt tcaagtgcaa acactgcagt tatgcctgca agcaggaacg
     1621 tcatatgacc gctcacattc gtacccacac tggagagaaa ccattcacct gcctttcttg
     1681 caataaatgt ttccgacaga agcaacttct aaacgctcac ttcaggaaat accacgatgc
     1741 aaatttcatc ccgactgttt acaaatgctc caagtgtggc aaaggctttt cccgctggat
     1801 taacctgcac agacattcgg agaagtgtgg atcaggggaa gcaaagtcgg ctgcttcagg
     1861 aaagggaaga agaacaagaa agaggaagca gaccatcctg aaggaagcca caaagggtca
     1921 gaaggaagct gcgaagggat ggaaggaagc cgcgaacgga gacgaagctg ctgctgagga
     1981 ggcttccacc acgaagggag aacagttccc aggagagatg tttcctgtcg cctgcagaga
     2041 aaccacagcc agagtcaaag aggaagtgga tgaaggcgtg acctgtgaaa tgctcctcaa
     2101 cacgatggat aagtgagagg gattcgggtt gcgtgttcac tgcccccaat tcctaaagca
     2161 agttagaagt ttttagcatt taaggtgtga aatgctcctc aacacgatgg ataagtgaga
     2221 gagagtcagg ttgcatgttc actgccccta attcctaaag caagttagaa atttttagca
     2281 ttttctttga aacaattaag ttcatgacaa tggatgacac aagtttgagg tagtgtctag
     2341 aattgttctc ctgtttgtag ctggatattt caaagaaaca ttgcaggtat tttataaaag
     2401 ttttaaacct tgaatgagag ggtaacacct caaacctatg gattcattca cttgatattg
     2461 gcaaggtggc ccacaatgag tgagtagtga tttttggata tttcaaaata gtctagacca
     2521 gctagtgctt ccacagtcaa agctggacat ttttatgttg cattatatac acccatgata
     2581 tttctaataa tatatggttt taaacattaa agacaaatgt ttttatacaa atgaattttc
     2641 tacaaaattt aaagctacca taatgctttt aattagttct aaattcaacc aaaaaatgtt
     2701 ttactcttat aaaaaggaaa actgagtagg aaatgaaata ctagattaga ctagaaaata
     2761 aggaataaat cgattttact ttggtatagg agcaaggttc acctttagat ttttgtattc
     2821 tcttttaatt atgctccttg gcaggtatga aattgccctg gttacattcc attattgctt
     2881 attagtattt cactccataa cccttttttc tgctaaaact actcttttta tatttgtaaa
     2941 ataattggca gagtgagaag aaacataaaa tcagataagg caaatgtgta cctgtaagga
     3001 atttgtactt tttcataatg cccagtgatt agtgagtatt tcccttttgc cagttgacaa
     3061 gatttttcca ccctcgagca gcgtgagaga tgcctcttta acacttgaaa ttcatttcta
     3121 tctggataca gaggcagatt tttcttcatt gcttagttga gcagtttgtt ttgctgccaa
     3181 cctgtctcca cccctgtatt tcaagatcat tgataagccc taaattcaaa ttcttaagat
     3241 atggaccttt tattgaaaat atcacaagtt cagaatccct atacaatgtg aatatgtgga
     3301 aataatttcc cagcaggaag agcattatat tctctttgta ccagcaaatt aatttaactc
     3361 aactcacatg agatttaaat tctgtgggct gtagtatgcc atcattgtga ctgaatttgt
     3421 gcaatggttt cttaattttt ttactgttat ttaaagatgt tttacataat tcaataaaat
     3481 gaaatgactt aaaattgcta
//
