LOCUS       NR_197431               2113 bp    RNA     linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens POU class 3 homeobox 3 (POU3F3), transcript variant 3,
            non-coding RNA.
ACCESSION   NR_197431
VERSION     NR_197431.1
KEYWORDS    RefSeq.
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 2113)
  AUTHORS   Rossi,A., Blok,L.S., Neuser,S., Klockner,C., Platzer,K.,
            Faivre,L.O., Weigand,H., Dentici,M.L., Tartaglia,M., Niceta,M.,
            Alfieri,P., Srivastava,S., Coulter,D., Smith,L., Vinorum,K.,
            Cappuccio,G., Brunetti-Pierri,N., Torun,D., Arslan,M.,
            Lauridsen,M.F., Murch,O., Irving,R., Lynch,S.A., Mehta,S.G.,
            Carmichael,J., Zonneveld-Huijssoon,E., de Vries,B., Kleefstra,T.,
            Johannesen,K.M., Westphall,I.T., Hughes,S.S., Smithson,S.,
            Evans,J., Dudding-Byth,T., Simon,M., van Binsbergen,E.,
            Herkert,J.C., Beunders,G., Oppermann,H., Bakal,M., Moller,R.S.,
            Rubboli,G. and Bayat,A.
  TITLE     POU3F3-related disorder: Defining the phenotype and expanding the
            molecular spectrum
  JOURNAL   Clin Genet 104 (2), 186-197 (2023)
   PUBMED   37165752
  REMARK    GeneRIF: POU3F3-related disorder: Defining the phenotype and
            expanding the molecular spectrum.
REFERENCE   2  (bases 1 to 2113)
  AUTHORS   Torun,D., Arslan,M. and Yuksel,Z.
  TITLE     Coexistence of severe developmental delay, epilepsy, and hemangioma
            in Snijders Blok-Fisher syndrome suggests the presence of a
            POU3F3-related SNIBFIS endophenotype: A case report
  JOURNAL   Am J Med Genet A 185 (5), 1554-1560 (2021)
   PUBMED   33645921
  REMARK    GeneRIF: Coexistence of severe developmental delay, epilepsy, and
            hemangioma in Snijders Blok-Fisher syndrome suggests the presence
            of a POU3F3-related SNIBFIS endophenotype: A case report.
REFERENCE   3  (bases 1 to 2113)
  AUTHORS   Zou,J., Guo,Y., Wei,L., Yu,F., Yu,B. and Xu,A.
  TITLE     Long Noncoding RNA POU3F3 and alpha-Synuclein in Plasma L1CAM
            Exosomes Combined with beta-Glucocerebrosidase Activity: Potential
            Predictors of Parkinson's Disease
  JOURNAL   Neurotherapeutics 17 (3), 1104-1119 (2020)
   PUBMED   32236821
  REMARK    GeneRIF: Long Noncoding RNA POU3F3 and alpha-Synuclein in Plasma
            L1CAM Exosomes Combined with beta-Glucocerebrosidase Activity:
            Potential Predictors of Parkinson's Disease.
REFERENCE   4  (bases 1 to 2113)
  AUTHORS   Snijders Blok,L., Kleefstra,T., Venselaar,H., Maas,S., Kroes,H.Y.,
            Lachmeijer,A.M.A., van Gassen,K.L.I., Firth,H.V., Tomkins,S.,
            Bodek,S., Ounap,K., Wojcik,M.H., Cunniff,C., Bergstrom,K.,
            Powis,Z., Tang,S., Shinde,D.N., Au,C., Iglesias,A.D., Izumi,K.,
            Leonard,J., Abou Tayoun,A., Baker,S.W., Tartaglia,M., Niceta,M.,
            Dentici,M.L., Okamoto,N., Miyake,N., Matsumoto,N., Vitobello,A.,
            Faivre,L., Philippe,C., Gilissen,C., Wiel,L., Pfundt,R.,
            Deriziotis,P., Brunner,H.G. and Fisher,S.E.
  CONSRTM   DDD Study
  TITLE     De Novo Variants Disturbing the Transactivation Capacity of POU3F3
            Cause a Characteristic Neurodevelopmental Disorder
  JOURNAL   Am J Hum Genet 105 (2), 403-412 (2019)
   PUBMED   31303265
  REMARK    GeneRIF: De Novo Variants Disturbing the Transactivation Capacity
            of POU3F3 Cause Neurodevelopmental Disorders.
REFERENCE   5  (bases 1 to 2113)
  AUTHORS   Yang,J., Meng,X., Yu,Y., Pan,L., Zheng,Q. and Lin,W.
  TITLE     LncRNA POU3F3 promotes proliferation and inhibits apoptosis of
            cancer cells in triple-negative breast cancer by inactivating
            caspase 9
  JOURNAL   Biosci Biotechnol Biochem 83 (6), 1117-1123 (2019)
   PUBMED   30843771
  REMARK    GeneRIF: the present study showed that lncRNA POU3F3 may promote
            proliferation and inhibit apoptosis of cancer cells in
            triple-negative breast cancer by inactivating caspase 9.
REFERENCE   6  (bases 1 to 2113)
  AUTHORS   Kuhlbrodt,K., Herbarth,B., Sock,E., Enderich,J.,
            Hermans-Borgmeyer,I. and Wegner,M.
  TITLE     Cooperative function of POU proteins and SOX proteins in glial
            cells
  JOURNAL   J Biol Chem 273 (26), 16050-16057 (1998)
   PUBMED   9632656
REFERENCE   7  (bases 1 to 2113)
  AUTHORS   Sumiyama,K., Washio-Watanabe,K., Ono,T., Yoshida,M.C., Hayakawa,T.
            and Ueda,S.
  TITLE     Human class III POU genes, POU3F1 and POU3F3, map to chromosomes
            1p34.1 and 3p14.2
  JOURNAL   Mamm Genome 9 (2), 180-181 (1998)
   PUBMED   9457692
REFERENCE   8  (bases 1 to 2113)
  AUTHORS   Malik,K.F., Jaffe,H., Brady,J. and Young,W.S. 3rd.
  TITLE     The class III POU factor Brn-4 interacts with other class III POU
            factors and the heterogeneous nuclear ribonucleoprotein U
  JOURNAL   Brain Res Mol Brain Res 45 (1), 99-107 (1997)
   PUBMED   9105675
REFERENCE   9  (bases 1 to 2113)
  AUTHORS   Sumiyama,K., Washio-Watanabe,K., Saitou,N., Hayakawa,T. and Ueda,S.
  TITLE     Class III POU genes: generation of homopolymeric amino acid repeats
            under GC pressure in mammals
  JOURNAL   J Mol Evol 43 (3), 170-178 (1996)
   PUBMED   8703082
REFERENCE   10 (bases 1 to 2113)
  AUTHORS   He,X., Treacy,M.N., Simmons,D.M., Ingraham,H.A., Swanson,L.W. and
            Rosenfeld,M.G.
  TITLE     Expression of a large family of POU-domain regulatory genes in
            mammalian brain development
  JOURNAL   Nature 340 (6228), 35-41 (1989)
   PUBMED   2739723
  REMARK    Erratum:[Nature 1989 Aug 24;340(6235):662]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018730.8.
            
            Summary: This gene encodes a POU-domain containing protein that
            functions as a transcription factor. The encoded protein recognizes
            an octamer sequence in the DNA of target genes. This protein may
            play a role in development of the nervous system. [provided by
            RefSeq, Apr 2015].
            
            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.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-294               AC018730.8         78433-78726
            295-2113            AC018730.8         151112-152930
FEATURES             Location/Qualifiers
     source          1..2113
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.1"
     gene            1..2113
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /note="POU class 3 homeobox 3"
                     /db_xref="GeneID:5455"
                     /db_xref="HGNC:HGNC:9216"
                     /db_xref="MIM:602480"
     misc_RNA        1..2113
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /product="POU class 3 homeobox 3, transcript variant 3"
                     /db_xref="GeneID:5455"
                     /db_xref="HGNC:HGNC:9216"
                     /db_xref="MIM:602480"
     exon            1..294
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /inference="alignment:Splign:2.1.0"
     exon            295..2113
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      

gaggagccagggagcggcggcagcgagcggtccgtctcgcacgcgcgggcaccgcgctggtcctgggctgcaggtttcccagatgatggcatccgagaacttaaacaaagggggctgccgccggcgcgcaacggctgcggaaagttgcggtggcggatttccaaggagcgtggccacgaccagagctcttggcgatgcgagcccccgcttcccacccccgccgatcagagaagggggccggctggtgaagggaagaggaaactttgaaaccactggggacacatctgtctatagttctggagatttggaagtccaagatcaaggtgctgccggatttggttcttgtctgggttcatagaagattgtcctcaccataggcatgggcaaagacttcatgacaaaaacacaaaaagcaattgcaacaaaagccaaaattgacaaatgggatctaattaaactaaagagcttctgcacagcaaaagaaactctcattggagtaaacaggcaacctacagaatgggagaaaatttttgccatctatctatctgacaaagggctaatatccagaatctacaaagaacttcaacaaatttacaagaaaaaaacaaacaaccccatcaaaaagtgggtgaaggatatgaacagacacttcctaaaagaagacatttatgtggccaataaacatatgaaaaaaagctcatcaccattgatcattagagaaatgcaaatcaaaaccacaatgagataccatctcatgccagttagaatagtgatgattaaaaagtcaagaaacaacagctgctttagaggatgtggataaacaggaacacttttacactgttggtgggagtgtaaattagttcaaccattgtggaagacagtatggcaattcctcaaggatctagaaccagaaataccatttgacccagcaatcccattatacccaaaggattataaatcattctgctataaagacacatgcaaatgtatgtttattgcagcactgttcacaatagcaaagacttggaaccaacccaaatgcccatcaatgatagactagataaagaaaatgtggcacatatataccatcgaatactatgcagccataaaaaaggatgagttcatgttgtttgcagggacatggatgaagctggaaaccgtcattctcagcaaactaacacaagaacagaaaactaaacactgcatgttctcactcataagtgggagttgaacaatgagaacacatggacatagggacatagggaggggaacatcacacactggggcctgtcagggggtgaggggctaggggagggatagcattagaagaaacacctaatgtagatgatgggtggatgggcgcaacaaaccaccatggtgtgtgtatacctatgtaacaaacctgcacattcagtacatgtatcccagaacttaaaatatatgtatatgtatatatagtcctcactgtgccctaacatggtgggaaaggcaagggatctctctggcatctcttttataagggcactaatcccactcatgagggctctgccttcaaaccctaaccacctcttaataccatcattttgggcattacaatttcaacacatggcttttggggcacacagacatccagttcataacaacgaggtcaggaatgcttccttttggtggctttttaaagacacacaaaaacaaagatgagaaggcagggagaaagaaaagggaaagggggtagaaagggggtagagagagaaaaggatggggatttaactctctgataaatactaacatgtttacaatttttaaaaaatgggtcaggtgcagtggctcatgcctctaatcccagcactttgagaggtcaaggcattagaattgcttgagccaaagagttcgagatcacgctgggcaacacagtgaggcatctatctctagaaaatttttttaaaattagtcaggtgctgcggcatgcacctgtaagtctgaaagctggggcgggggattgttcaagcccaagagtttaaggctgcagtgaattataattgtgccactctactctagcctgagtgacagagtgagaccttgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaa

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