LOCUS       NM_001278624            3880 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens nuclear transcription factor, X-box binding like 1
            (NFXL1), transcript variant 3, mRNA.
ACCESSION   NM_001278624
VERSION     NM_001278624.2
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 3880)
  AUTHORS   Villanueva,P., Nudel,R., Hoischen,A., Fernandez,M.A., Simpson,N.H.,
            Gilissen,C., Reader,R.H., Jara,L., Echeverry,M.M., Francks,C.,
            Baird,G., Conti-Ramsden,G., O'Hare,A., Bolton,P.F., Hennessy,E.R.,
            Palomino,H., Carvajal-Carmona,L., Veltman,J.A., Cazier,J.B., De
            Barbieri,Z., Fisher,S.E. and Newbury,D.F.
  CONSRTM   SLI Consortium
  TITLE     Exome sequencing in an admixed isolated population indicates NFXL1
            variants confer a risk for specific language impairment
  JOURNAL   PLoS Genet 11 (3), e1004925 (2015)
   PUBMED   25781923
  REMARK    GeneRIF: We conclude that coding variants within NFXL1 confer an
            increased risk of Specific Language Impairment within a complex
            genetic model
            Erratum:[PLoS Genet. 2015 Jun 26;11(6):e1005336. doi:
            10.1371/journal.pgen.1005336.. Echeverry, Maria Magdalena
            [corrected to Echeverry, Maria Magdalena]. PMID: 26114769]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3880)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3880)
  AUTHORS   Mussig,C., Schroder,F., Usadel,B. and Lisso,J.
  TITLE     Structure and putative function of NFX1-like proteins in plants
  JOURNAL   Plant Biol (Stuttg) 12 (3), 381-394 (2010)
   PUBMED   20522174
  REMARK    Review article
REFERENCE   4  (bases 1 to 3880)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 3880)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 3880)
  AUTHORS   Tang,W., Yuan,J., Chen,X., Shan,Y., Luo,K., Guo,Z., Zhang,Y.,
            Wan,B. and Yu,L.
  TITLE     Cloning and characterization of the CDZFP gene which encodes a
            putative zinc finger protein
  JOURNAL   DNA Seq 16 (5), 391-396 (2005)
   PUBMED   16323267
  REMARK    Erratum:[DNA Seq. 2006 Apr;17(2):174]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107068.3, DA801937.1 and AB181916.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001278624.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB181916.1, SRR1660807.62305.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000507489.2/ ENSP00000422037.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC107068.3         113354-113379       c
            27-44               DA801937.1         1-18
            45-1789             AB181916.1         1-1745
            1790-1790           AC107068.3         84770-84770         c
            1791-2023           AB181916.1         1747-1979
            2024-2024           AC107068.3         84315-84315         c
            2025-3106           AB181916.1         1981-3062
            3107-3880           AC107068.3         46036-46809         c
FEATURES             Location/Qualifiers
     source          1..3880
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..3880
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /note="nuclear transcription factor, X-box binding like 1"
                     /db_xref="GeneID:152518"
                     /db_xref="HGNC:HGNC:18726"
                     /db_xref="MIM:620488"
     exon            1..219
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            220..456
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     CDS             222..2957
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /note="ovarian zinc finger protein; up-regulated in colon
                     cancer 5; cytoplasm-distribution zinc finger protein"
                     /codon_start=1
                     /product="NF-X1-type zinc finger protein NFXL1"
                     /protein_id="NP_001265553.1"
                     /db_xref="CCDS:CCDS3478.2"
                     /db_xref="GeneID:152518"
                     /db_xref="HGNC:HGNC:18726"
                     /db_xref="MIM:620488"
                     /translation="MEASWRQVAGGRGRSRGRATAAPSGNGVHLRGAGGGREKGSVGA
                     VPSGTSPGGVATTAAAGSRHSPAGSQALQTTAASELMSQKKFEEIKKANQAAARKLVE
                     EQFSSSSEEGDEDFEGKQGKILANTFITYTTQTDGDTRELERTKQYVNEAFQAGAMTC
                     LICIASVKRNQAVWSCSGCFCIFHMPCIQKWAKDSQFLVSSVTDDDFGKKDCPWPCPK
                     CRFEYKRSETPSRYYCYCGKVEDPPLDPWLVPHSCGQVCEREFKPPCGHKCLLLCHPG
                     PCPPCPKMVTTTCYCKKAKPIPRRCSAKEWSCQLPCGQKLLCGQHKCENPCHAGSCQP
                     CPRVSRQKCVCGKKVAERSCASPLWHCDQVCGKTLPCGNHTCEQVCHVGACGECPRSG
                     KRFCPCQKSKFSLPCTEDVPTCGDSCDKVLECGIHRCSQRCHRGPCETCRQEVEKHCR
                     CGKHTKRMPCHKPYLCETKCVKMRDCQKHQCRRKCCPGNCPPCDQNCGRTLGCRNHKC
                     PSVCHRGSCYPCPETVDVKCNCGNTKVTVPCGRERTTRPPKCKEQCSRPPTCHHTSQE
                     KHRCHFGSCPPCHQPCQKVLEKCGHLCPAPCHDQALIKQTGRHQPTGPWEQPSEPAFI
                     QTALPCPPCQVPIPMECLGKHEVSPLPCHAVGPYSCKRVCGRILDCQNHTCMKECHKV
                     TKTDGCTGKNKAGPECLHCEEGCSKSRPLGCLHPCILRCHPGECPPCVQMLRIKCHCK
                     ITSLYVECRKITTADVNEKNLLSCCKNQCPKELPCGHRCKEMCHPGECPFNCNQKVKL
                     RCPCKRIKKELQCNKVRENQVSIECDTTCKEMKRKASEIKEAEAKAALEEEKRRQQAE
                     LEAFENRLKGRRKKNRKRDEVAVELSLWQKHKYYLISVCGVVVVVFAWYITHDVN"
     exon            457..627
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            628..737
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            738..868
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            869..1047
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1209
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1310
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1425
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1550
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1673
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1764
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..1885
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1886..2045
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2137
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2159
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2160..2300
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2301..2467
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2468..2537
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..2642
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2643..2729
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2730..2783
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     exon            2784..3880
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3860..3865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /note="hexamer: ATTAAA"
     polyA_site      3880
                     /gene="NFXL1"
                     /gene_synonym="CDZFP; HOZFP; OZFP; URCC5"
                     /note="major polyA site"
ORIGIN      
        1 accactgcag ttggttcccg gcgggagacg cagggtcagt ctgtgactct tcccctacca
       61 cgctcccgca gaggctgagg aggcggtttc gacttctcct ccggctttct gtcttcggca
      121 ctgtgtgctt cttgctccgc ggtttatttc tgtacctagt cctccctccc ctcttcggtc
      181 catctccaaa gcccgggctt ggcggggact cgccctccgg gatggaagct tcctggcgcc
      241 aggtggccgg tggccgaggc cgatcccggg gacgggccac tgccgccccc tcaggaaatg
      301 gagtccatct ccgcggcgcc ggaggagggc gagagaaggg gtcggtgggc gcagttcctt
      361 ctggcaccag tcccggagga gtcgcgacca cggcggctgc agggagcagg cacagccccg
      421 caggatccca agccctgcag actaccgcag ccagcgagct aatgtctcag aaaaaatttg
      481 aagaaatcaa gaaagctaac caagctgcag ccagaaaact tgttgaagaa cagtttagct
      541 cttcatctga agaaggagat gaagattttg aaggaaaaca gggaaaaata cttgcaaata
      601 cgtttataac atacactact cagacagatg gagatacacg tgaattagag cgaacaaaac
      661 aatatgtaaa tgaagctttt caagcagggg ctatgacatg cctaatttgt attgcttcgg
      721 tgaagagaaa ccaagcagtt tggagctgtt cgggatgttt ctgtatattt cacatgccct
      781 gtatccagaa gtgggctaaa gacagccagt ttcttgtatc ttctgtgact gatgatgatt
      841 ttggaaagaa agattgtccc tggccttgtc caaaatgtag gtttgaatac aaacgatctg
      901 aaacacctag taggtactat tgctattgtg gaaaagtaga agatccacct ttagatccgt
      961 ggcttgtgcc tcattcatgt ggccaagtat gtgagcgtga atttaaacct ccttgtggcc
     1021 ataaatgttt actcctctgt catccaggtc cctgccctcc ttgtccaaag atggtcacaa
     1081 ctacttgtta ctgtaagaaa gcaaaaccta tccctcgtag gtgcagtgcc aaggaatggt
     1141 cttgtcagct gccatgtgga cagaagttgc tttgtgggca acataagtgt gaaaatcctt
     1201 gtcatgcagg aagctgtcag ccttgtccaa gagttagtag acaaaagtgt gtctgtggca
     1261 aaaaagtagc tgaaagaagt tgtgcaagtc cactatggca ctgtgatcaa gtatgtggaa
     1321 aaacactgcc atgtggtaat cacacatgtg agcaagtttg ccatgttggt gcttgtggag
     1381 aatgtcctcg atctgggaaa aggttctgtc catgtcagaa atcaaagttt tctttgcctt
     1441 gtacagaaga tgtaccaact tgtggagaca gttgtgacaa agtacttgaa tgcggaatcc
     1501 atagatgttc acagcgttgt caccgaggtc cctgtgaaac atgtagacaa gaagtggaaa
     1561 agcattgtcg ctgtggaaag catacaaaac gaatgccttg tcataaacct tatctgtgtg
     1621 aaactaagtg tgttaagatg cgtgactgtc agaagcatca atgtagaaga aagtgttgcc
     1681 ctggaaactg tccaccttgt gatcaaaact gtggacggac tttaggatgt agaaaccata
     1741 agtgtccatc tgtctgtcac agaggcagtt gctatccctg cccagaaacc gtagatgtga
     1801 agtgtaattg tggcaataca aaggtgacag tgccctgtgg ccgagaacgt accacaagac
     1861 cacccaagtg caaggagcaa tgcagtcgac caccaacttg tcatcataca agtcaagaaa
     1921 aacatcgctg tcactttggt tcttgtccac catgtcatca accttgccaa aaagttttgg
     1981 agaaatgtgg tcacttgtgt cctgctccgt gtcatgatca agcattaata aagcagactg
     2041 gcaggcacca gcctacaggc ccttgggaac agccttctga gccagcattt attcagactg
     2101 cattaccgtg tcctccatgt caagttccta ttcctatgga atgtcttggg aaacatgagg
     2161 tgagtccact accatgccat gctgtaggac cctactcttg taaaagagtt tgtggaagaa
     2221 tcttggattg tcagaatcac acatgtatga aagaatgcca caaagtaacc aaaactgatg
     2281 gctgcactgg aaaaaacaag gctggcccag aatgccttca ttgtgaggaa gggtgctcca
     2341 agtcacggcc actaggttgt cttcacccat gtattttgcg atgtcaccct ggagaatgtc
     2401 caccttgtgt tcagatgctt agaataaaat gtcactgtaa gatcacaagc ctgtatgtgg
     2461 aatgtagaaa aataaccaca gctgatgtaa atgaaaagaa cctcctcagt tgttgcaaaa
     2521 atcagtgccc taaagagctt ccttgtggtc atagatgcaa agagatgtgt catcctggtg
     2581 aatgtccctt taactgcaac cagaaggtaa aacttagatg tccttgtaaa agaataaaaa
     2641 aggaattgca gtgcaacaaa gtacgtgaaa atcaggtttc aatagaatgt gacacaacgt
     2701 gcaaggaaat gaagcggaaa gcatctgaga taaaagaagc agaagccaaa gctgctcttg
     2761 aagaagaaaa acgaagacaa caggctgaac tagaagcttt tgaaaacaga ctgaagggtc
     2821 gtcggaagaa gaacaggaaa agagatgaag tggcagttga gctatcacta tggcaaaaac
     2881 ataaatatta tctcatttca gtgtgtggag ttgtggttgt agtgtttgcc tggtacatca
     2941 cccatgatgt caattaaaaa aagttttgat cttttaatgt aactcagatt ggatttagat
     3001 aagttgttaa atttgaaata ttagaaaatg tatattatag aacatgatat atatttacat
     3061 tcatctctgt attctctcag ctgttgttag aaggacagaa tgttaaactt tatcttaatt
     3121 agtatactag aaagggcagt ataatactgt tttaaagtga aggcatgact gaaactaaaa
     3181 tatttcataa ggcttagcta gaggcagagt aacgtgtttt tgttcattgg gcttccttgt
     3241 acttagtttt ttcatttaat aattcaaacc aacactttta aaaaaataat tcagatgaga
     3301 ctgagccata tctgcagtaa gagaaatatt tcttaatgtt ttggttactt atgatagagt
     3361 acttttcttg atactgttaa ctttgtgctt tttaaaaaaa gtgattctct aacagacctc
     3421 ttaaattgtg acatgaaggt atgtaattag atttcagaaa ttggtttatt agtgaggaat
     3481 ttttatcaat aaatgtcatg gggcgtgttc ttcagaatat atagttattt tcaacaaatg
     3541 ccaggctaga ttcctcacat gtggctattt cttatgtaag aagcttttaa ctgaagttgg
     3601 catgtttcgt aaaacttgcg tgtcttttaa aaataataaa aggaagatga gtatttatga
     3661 agaatatgtg ctgacaacag ggcttatgag gtctatgtac cttaatctcg tttctcctta
     3721 ccacaatctt aaatagattt cagctgaaaa taatcagttc ttatgaaaac aaatagagaa
     3781 atatcagtaa gtcaaatctg tttgaattat aattcctttc aaatagtttt gctatttaat
     3841 ttatatgatt aatgttttca ttaaaatttt tgataccaaa
//
