LOCUS       NM_024496               4166 bp    mRNA    linear   PRI 25-NOV-2024
DEFINITION  Homo sapiens interferon regulatory factor 2 binding protein like
            (IRF2BPL), mRNA.
ACCESSION   NM_024496
VERSION     NM_024496.4
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 4166)
  AUTHORS   Chen,P.S., Chen,Y.F., Chiu,J.Y., Wu,M.C., Tai,C.H., Chang,Y.Y.,
            Lan,M.Y., Lee,N.C. and Lin,C.H.
  TITLE     Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The
            genotype and phenotype correlation
  JOURNAL   Ann Clin Transl Neurol 11 (6), 1557-1566 (2024)
   PUBMED   38650104
  REMARK    GeneRIF: Genetic analysis of IRF2BPL in a Taiwanese dystonia
            cohort: The genotype and phenotype correlation.
REFERENCE   2  (bases 1 to 4166)
  AUTHORS   Wang,Y., Ke,Z., Li,Y., Qiu,M., Liu,J., Yang,Z., Wen,S., Liang,M.
            and Chen,S.
  TITLE     De novo variants of IRF2BPL result in developmental epileptic
            disorder
  JOURNAL   Orphanet J Rare Dis 19 (1), 121 (2024)
   PUBMED   38481258
  REMARK    GeneRIF: De novo variants of IRF2BPL result in developmental
            epileptic disorder.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4166)
  AUTHORS   Gardella,E., Michelucci,R., Christensen,H.M., Fenger,C.D.,
            Reale,C., Riguzzi,P., Pasini,E., Albini-Riccioli,L., Papa,V.,
            Foschini,M.P., Cenacchi,G., Furia,F., Marjanovic,D., Hammer,T.B.,
            Moller,R.S. and Rubboli,G.
  TITLE     IRF2BPL as a novel causative gene for progressive myoclonus
            epilepsy
  JOURNAL   Epilepsia 64 (8), e170-e176 (2023)
   PUBMED   37114479
  REMARK    GeneRIF: IRF2BPL as a novel causative gene for progressive
            myoclonus epilepsy.
REFERENCE   4  (bases 1 to 4166)
  AUTHORS   Antonelli,F., Grieco,G., Cavallieri,F., Casella,A. and Valente,E.M.
  TITLE     Adult onset familiar dystonia-plus syndrome: A novel presentation
            of IRF2BPL-associated neurodegeneration
  JOURNAL   Parkinsonism Relat Disord 94, 22-24 (2022)
   PUBMED   34864472
  REMARK    GeneRIF: Adult onset familiar dystonia-plus syndrome: A novel
            presentation of IRF2BPL-associated neurodegeneration.
REFERENCE   5  (bases 1 to 4166)
  AUTHORS   Matagne,V., Mastronardi,C., Shapiro,R.A., Dorsa,D.M. and Ojeda,S.R.
  TITLE     Hypothalamic expression of Eap1 is not directly controlled by
            ovarian steroids
  JOURNAL   Endocrinology 150 (4), 1870-1878 (2009)
   PUBMED   19022886
REFERENCE   6  (bases 1 to 4166)
  AUTHORS   Heger,S., Mastronardi,C., Dissen,G.A., Lomniczi,A., Cabrera,R.,
            Roth,C.L., Jung,H., Galimi,F., Sippell,W. and Ojeda,S.R.
  TITLE     Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of
            the female neuroendocrine reproductive axis
  JOURNAL   J Clin Invest 117 (8), 2145-2154 (2007)
   PUBMED   17627301
  REMARK    GeneRIF: C14orf4 encodes a transcriptional regulator that, acting
            within the neuroendocrine brain, contributes to controlling female
            reproductive function
REFERENCE   7  (bases 1 to 4166)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 4166)
  AUTHORS   Scott,M.P., Zappacosta,F., Kim,E.Y., Annan,R.S. and Miller,W.T.
  TITLE     Identification of novel SH3 domain ligands for the Src family
            kinase Hck. Wiskott-Aldrich syndrome protein (WASP),
            WASP-interacting protein (WIP), and ELMO1
  JOURNAL   J Biol Chem 277 (31), 28238-28246 (2002)
   PUBMED   12029088
REFERENCE   9  (bases 1 to 4166)
  AUTHORS   Rampazzo,A., Pivotto,F., Occhi,G., Tiso,N., Bortoluzzi,S.,
            Rowen,L., Hood,L., Nava,A. and Danieli,G.A.
  TITLE     Characterization of C14orf4, a novel intronless human gene
            containing a polyglutamine repeat, mapped to the ARVD1 critical
            region
  JOURNAL   Biochem Biophys Res Commun 278 (3), 766-774 (2000)
   PUBMED   11095982
REFERENCE   10 (bases 1 to 4166)
  AUTHORS   Vanagunas,T., Ulm Seiwert,E., Larsh,T.R., Marcogliese,P.C. and
            Pena,L.D.M.
  TITLE     IRF2BPL-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   39571061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007686.5 and BC108292.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024496.3.
            
            Summary: This gene encodes a transcription factor that may play a
            role in regulating female reproductive function. [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 is intronless :: BC108292.1, SRR7346977.1572721.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000238647.5/ ENSP00000238647.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AC007686.5         91124-91132         c
            10-369              BC108292.1         1-360
            370-2161            AC007686.5         88972-90763         c
            2162-3732           BC108292.1         2150-3720
            3733-3860           AC007686.5         87273-87400         c
            3861-4166           BC108292.1         3842-4147
FEATURES             Location/Qualifiers
     source          1..4166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..4166
                     /gene="IRF2BPL"
                     /gene_synonym="C14orf4; EAP1; NEDAMSS"
                     /note="interferon regulatory factor 2 binding protein
                     like"
                     /db_xref="GeneID:64207"
                     /db_xref="HGNC:HGNC:14282"
                     /db_xref="MIM:611720"
     exon            1..4166
                     /gene="IRF2BPL"
                     /gene_synonym="C14orf4; EAP1; NEDAMSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             917..3307
                     /gene="IRF2BPL"
                     /gene_synonym="C14orf4; EAP1; NEDAMSS"
                     /EC_number="2.3.2.27"
                     /note="enhanced at puberty 1; enhanced at puberty protein
                     1; E3 ubiquitin-protein ligase IRF2BPL"
                     /codon_start=1
                     /product="probable E3 ubiquitin-protein ligase IRF2BPL"
                     /protein_id="NP_078772.1"
                     /db_xref="CCDS:CCDS9854.1"
                     /db_xref="GeneID:64207"
                     /db_xref="HGNC:HGNC:14282"
                     /db_xref="MIM:611720"
                     /translation="MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGA
                     DRIEFVIETARQLKRAHGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAAAA
                     QQQQQQQQQQQQQQQQQQQQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAA
                     AAAAVEQRSRFEYPPPPVSLGSSSHTARLPNGLGGPNGFPKPTPEEGPPELNRQSPNS
                     SSAAASVASRRGTHGGLVTGLPNPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPP
                     HALGSRGPPTPAPPGAPGGPACLGGTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGS
                     VSSTDQERELKEKQRNAEALAELSESLRNRAEEWASKPKMVRDTLLTLAGCTPYEVRF
                     KKDHSLLGRVFAFDAVSKPGMDYELKLFIEYPTGSGNVYSSASGVAKQMYQDCMKDFG
                     RGLSSGFKYLEYEKKHGSGDWRLLGDLLPEAVRFFKEGVPGADMLPQPYLDASCPMLP
                     TALVSLSRAPSAPPGTGALPPAAPSGRGAAASLRKRKASPEPPDSAEGALKLGEEQQR
                     QQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPPPPLGPHSNRTTPPESAPQNGPSPM
                     AALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSPVSPASVPGQRRLASRNGDLNLQ
                     VAPPPPSAHPGMDQVHPQNIPDSPMANSGPLCCTICHERLEDTHFVQCPSVPSHKFCF
                     PCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDP"
     regulatory      4146..4151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRF2BPL"
                     /gene_synonym="C14orf4; EAP1; NEDAMSS"
                     /note="hexamer: AATAAA"
     polyA_site      4166
                     /gene="IRF2BPL"
                     /gene_synonym="C14orf4; EAP1; NEDAMSS"
                     /note="major polyA site"
ORIGIN      
        1 ggggacagcg cgagccgcag ccggagcagg agcgccgaga cgcgcctccg gaacgtagag
       61 taacaatcac aaccccacat tccgggcgag cgtgagcacg agcgggaagg gatgcgaccc
      121 gggccgaggc gccgcgcgag cgccctgcag ccaacgtgag cgccgccagc cgcggcggcc
      181 cgggcgccgg ccaggcctgg gggcggcggg agcctgcgtg cgtgcactcc tctcctctgc
      241 tctcgtgcgt cctggaagca gtggccgcgg cggctccctc cggggtgcaa acccagtcgc
      301 cgccagcaga acggccgacg ctgcggaggg gagaaggtcc tttctcggct gccaccccct
      361 cccccggtcc tccggggaag cagcggcttc agcaagattg gacccgggca ccgggtggca
      421 ctgaaccctc tggccctcgc cccagggggc ccgtcgggga gaggacgcag ctcgtagggg
      481 ggtccccggg gagaggaaga gacagcccct ttcgagcttc cacgcaccag ccactccggg
      541 gagggggcca agaggcaacg gcggccacca ccgggcaccc tcgccccctc ccctcgggcc
      601 gggagcttcc agcccaagtc tgcagcacca ggaagaaggc gcctgagctc ccctcgcgac
      661 gagtcaaccg cagtaggagg tgggggcgaa gagagggctg aacccgtccg ctgcccgggc
      721 ggtggagccc ccacggcgag gcgctgcgcc ggcggtggag actcgcgttc cctccagccc
      781 ctggggcaga actttctcgc cccccctcct ccctcccccg cagtcggact ccctccccag
      841 ccggccagtc ctcccggagg agaaggcgcc gcggagacag cccgggcggg ggcctacctt
      901 ccccagggca ggcatcatgt cggcggcgca ggtgtcctcg tcccggagac aatcttgcta
      961 cctgtgcgac ctgccccgca tgccctgggc catgatctgg gacttctcgg aacccgtatg
     1021 ccgcggttgc gtcaactacg agggcgctga tcgcatcgaa ttcgtgatcg agacagcgcg
     1081 ccagctgaag cgggcgcacg gctgcttcca ggacggccgc tcccccgggc cgccgccgcc
     1141 cgtcggggtc aagacagtgg ccctgtcggc taaggaagcg gcggcggcgg cggcagcagc
     1201 ggcggccgcc gccgccgccg cgcaacagca acagcaacag cagcagcagc agcagcaaca
     1261 gcagcagcag cagcagcagc agcagcagca acaacagctc aaccacgttg atggttccag
     1321 caagcctgcg gtgctggcgg ccccgtctgg cctggagcgc tacggcctaa gcgctgccgc
     1381 cgccgccgcc gccgccgccg ccgctgcggt ggaacagcgc agccgcttcg agtacccgcc
     1441 accgccggtg agcctgggaa gcagcagcca caccgcgcga ctgcccaacg gcctgggggg
     1501 cccaaacggc ttccccaaac caacaccaga ggagggaccc ccagagctga accgtcagag
     1561 ccccaattct tcttcagcgg cggcgtcggt ggcgtctcgg cgtggaacgc acggtgggct
     1621 ggttacgggg ctgcccaacc cggggggtgg cggaggcccc cagctcaccg tgccccccaa
     1681 cctgctaccg cagacgctgc ttaacggccc ggccagcgct gcggtactcc ccccaccccc
     1741 tccccacgcc ctgggcagcc gtgggccccc gacgcctgct cccccagggg ctcctggggg
     1801 ccccgcttgt ctcgggggta ccccgggtgt atcggccacg tcgtcctccg cgtcgtcttc
     1861 gacctcttcg tcggtggcag aggtgggcgt gggtgctggt ggtaagaggc ccggctcggt
     1921 gtcgagcaca gaccaggagc gcgagttgaa ggagaagcag cgcaacgccg aggccctggc
     1981 cgagctgagc gagagcctgc gcaaccgcgc cgaggagtgg gccagcaagc ccaagatggt
     2041 ccgcgacacg ctgctcacgc tggcaggctg cacgccctac gaggttcgct tcaagaagga
     2101 ccactcgctg ctgggccgcg ttttcgcctt cgacgccgtc tccaagcccg gcatggacta
     2161 cgaattgaag ctgttcattg agtaccccac gggctcgggc aacgtgtact ccagtgcatc
     2221 tggtgtggcc aagcagatgt atcaggactg catgaaggac ttcggccggg gcctatcctc
     2281 gggtttcaag tacctggagt acgaaaagaa gcacggctcc ggggactggc gcctgcttgg
     2341 agacctgctc cccgaagccg tgcgcttctt caaggagggc gtgcccggcg ccgacatgct
     2401 gccccagccc tacctggacg ccagctgtcc catgctgccc actgctctgg tgagtctgag
     2461 ccgcgccccc agcgcacccc cggggaccgg ggccttgccg cccgccgcgc cgtcgggccg
     2521 gggcgcagcc gccagcctgc gcaagagaaa ggcctctccg gagcccccgg actcagccga
     2581 gggcgcgctg aagctgggcg aggaacagca gaggcagcag tggatggcga accagagcga
     2641 ggcgctgaag ctcaccatgt ccgccggggg cttcgcggcg ccggggcacg cggcgggggg
     2701 tccgcctccg ccgcccccac ctctgggacc ccattccaac cggaccaccc cacctgagtc
     2761 agccccccag aacggtccgt cccctatggc cgctctcatg tcggtggcag atactctggg
     2821 cacagcgcac tcgcccaagg atggcagttc cgtgcactct accactgcgt cggcgcggcg
     2881 aaacagcagc agcccagtct cgccggcctc cgtgccgggg cagcgccgct tggcatcacg
     2941 taacggggac ctgaatttac aggtggcgcc cccgccgcct agcgcccacc cgggcatgga
     3001 ccaagtgcac ccccaaaaca ttccggattc ccccatggcc aacagcggac ccctctgctg
     3061 caccatttgc cacgaacgtt tggaggatac gcatttcgtt cagtgccctt ccgtccccag
     3121 ccacaaattt tgcttccctt gctctagaga gagtatcaag gcccaggggg ccaccggcga
     3181 ggtgtattgc cccagcggag agaaatgccc cctagtcggg tcgaatgtac cttgggcctt
     3241 catgcagggc gaaatcgcga ctatcttagc tggggatgtt aaagtgaaaa aggagagaga
     3301 cccttgaacc actgggcagc cacctccttt gccctagacc agctcctctc caatcctgag
     3361 ggcccctccc ccaacccaac tcgaccctcc ctcccctcac ccccaaggtg tagaattgtg
     3421 aatataacga aactgcaaaa agttagtctt atgtatagac attattttcg tcgtatgttt
     3481 ctatattttg aaacaaaggt atgtaacttc ttcatttgaa ggataagctg gtttgtgtta
     3541 agcagtatag tattggttgg gtcatttgca tcatatcgtt agcatttatt tggtggcaga
     3601 atgtttgcct aggtacagaa ttaatagccc ttagcaacga ctgctgctgg tgtgtatttt
     3661 tgtaaatgtt atgcactctc tgaaaggaaa aacacacaca aaagaaaaag actttttttt
     3721 tttttttttt ttttttgcca aggccagtgt tgctgcctaa aaaaaaaaaa aaaaaaaaaa
     3781 aaaaaaaaaa aaaatgctat aaaatggtga aagcttcctt ctaaactgcc ccaagtgttg
     3841 aagtcttcac tttattttgt tgttttgttt tgtttttctg ttttgtttgc aaaatggtaa
     3901 gggggtgtcg ggggggatgg ggtgtatttt gttgcaagtt tgtgagggga aaatgttttg
     3961 gtttgtttct actgacctga atgtgttgga tctacacgtg ttgttttgtt tttgctttat
     4021 tgatgcacgg atgcttttga acagtagagc gaaatgctag acatggagaa tctgctctgt
     4081 ttgtccttta tacatttctg tagttaacag aacactgtaa tgtgccttgg agcttagtaa
     4141 cttgtaataa attcaattga tattaa
//
