LOCUS       NM_006236               4460 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens POU class 3 homeobox 3 (POU3F3), transcript variant 1,
            mRNA.
ACCESSION   NM_006236
VERSION     NM_006236.3
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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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 4460)
  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, CX873380.1 and
            CX873394.1.
            
            On May 17, 2019 this sequence version replaced NM_006236.2.
            
            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].
            
            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.
            
            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.
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000361360.4/ ENSP00000355001.2
            RefSeq Select criteria    :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC018730.8         79272-79284
            14-738              CX873380.1         1-725
            739-3717            AC018730.8         80010-82988
            3718-4460           CX873394.1         19-761              c
FEATURES             Location/Qualifiers
     source          1..4460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.1"
     gene            1..4460
                     /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"
     exon            1..4460
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /inference="alignment:Splign:2.1.0"
     CDS             1397..2899
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /note="octamer-binding protein 8; octamer-binding
                     transcription factor 8; brain-specific homeobox/POU domain
                     protein 1"
                     /codon_start=1
                     /product="POU domain, class 3, transcription factor 3"
                     /protein_id="NP_006227.1"
                     /db_xref="CCDS:CCDS33265.1"
                     /db_xref="GeneID:5455"
                     /db_xref="HGNC:HGNC:9216"
                     /db_xref="MIM:602480"
                     /translation="MATAASNPYLPGNSLLAAGSIVHSDAAGAGGGGGGGGGGGGGGA
                     GGGGGGMQPGSAAVTSGAYRGDPSSVKMVQSDFMQGAMAASNGGHMLSHAHQWVTALP
                     HAAAAAAAAAAAAVEASSPWSGSAVGMAGSPQQPPQPPPPPPQGPDVKGGAGRDDLHA
                     GTALHHRGPPHLGPPPPPPHQGHPGGWGAAAAAAAAAAAAAAAAHLPSMAGGQQPPPQ
                     SLLYSQPGGFTVNGMLSAPPGPGGGGGGAGGGAQSLVHPGLVRGDTPELAEHHHHHHH
                     HAHPHPPHPHHAQGPPHHGGGGGGAGPGLNSHDPHSDEDTPTSDDLEQFAKQFKQRRI
                     KLGFTQADVGLALGTLYGNVFSQTTICRFEALQLSFKNMCKLKPLLNKWLEEADSSTG
                     SPTSIDKIAAQGRKRKKRTSIEVSVKGALESHFLKCPKPSAQEITNLADSLQLEKEVV
                     RVWFCNRRQKEKRMTPPGIQQQTPDDVYSQVGTVSADTPPPHHGLQTSVQ"
     regulatory      4440..4445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /note="hexamer: AATAAA"
     polyA_site      4460
                     /gene="POU3F3"
                     /gene_synonym="brain-1; BRN1; oct-8; OTF8; SNIBFIS"
                     /note="major polyA site"
ORIGIN      
        1 attcgacagt ccccgctctg agagggaggg acagagagcg aactgtcaga tcggagcgag
       61 agcgggcgcc cgagagaggg agagagagag agggagggag aggaaaagtg agagagggaa
      121 agagagcgcg aacgagggcg cagagcgagc tcctgctgca actctgctcc agcacggcca
      181 gcgccagcgc ccgccgtcgg tgcactctac gagccgtgca gcgtgcccac tggagttgtt
      241 gtgtatcaag gatcgatccc ctatatgcac acacacacct ccacctccac caatgcactc
      301 ttcttcctcc tccttctcca gacaactgct gggaaaaaaa taaaacacca accccaaccg
      361 tcagcaacaa ggtaacagag cgattcgaca tcattttttt tcctgttcaa ttttttcctt
      421 gttatatttg tttcctaatt tctgcccaaa aggaaagatg tcgcatcaga ctgtgactgt
      481 tgcgaggaga atgaaaaagg actcttgttt cagaggcaac caagagctcc ggcaatagca
      541 acttcagaga aatgcaccat cgcaagaagt tttcctagga cagaacaaaa cttgaaacga
      601 gaggaccaga gggggagagc aggagccagc ctcccctctc cgcactcgcg agcagccagc
      661 agcaccacgc cttcaaggac gaaaaagttt tactactcta agggaaaacg agtgaaatgt
      721 gttcctgagg aggagaggag aggagaggag agagcggaca agagaaggag cgggccggtt
      781 gctggtcatc cgtaatttgg ctaaggaaga aaggagcagc ttctttcttt gttatctccc
      841 gtgaaacctt cacttagcag gtggacggag ccccgcgacc gggcagagtc cgggctcgcc
      901 cgaggacagg aggaggagcg ggagcccgcg cgtcccggga gagcgccccg agtgcaggtc
      961 cccgccccgc ccggcgagcc ccgctggagc gagcccagcg cgccggggct ggggggcggc
     1021 cacgaccccc cctgaagggg gtggccacgg agcgcacccc gagaagcgag cccccctccc
     1081 cagagcgctg ctcctgcggc tgctgctgct gctggtgacc aaggccggcc ggcgaccccc
     1141 gcgccctgcc gagcggcctt gcagctgcag ccgggggccg cggcggcggc ggcggcggcg
     1201 ggggcggagg cggcggcgga ggaggaggcg gcgaaggcgg cggggccggc gggggcccgg
     1261 ggcgggggcg gggaaggagg gggggaggag gcgggaggcg gggggcgcgg cggcggcggc
     1321 ggcggcggcg gccgcggctg ctgctgcggc ggcggcggcg gtggtggcgg cggtggggtg
     1381 gcgggagcgg agcggcatgg ccacggcggc ttctaacccc tacctgccgg ggaacagcct
     1441 gctcgcggcc ggctctattg tgcactcgga cgcggcaggg gctggcggcg gcgggggtgg
     1501 cggcggcggc ggcggcgggg gcggcgcagg gggcgggggc ggcggcatgc agccgggcag
     1561 cgccgccgtg acctcgggcg cctaccgggg ggacccgtcc tctgtcaaga tggtccagag
     1621 cgacttcatg cagggggcca tggccgccag caacggcggc catatgctga gccacgcgca
     1681 ccagtgggtc acagccctgc cccacgccgc cgccgccgcc gccgctgccg ccgccgccgc
     1741 cgtggaggcg agctcgccgt ggtcgggcag cgccgtgggc atggctggca gcccccagca
     1801 gccaccgcag ccgccgccgc caccgccgca gggccccgac gtgaagggcg gcgccgggcg
     1861 cgacgacctg cacgcgggca cagcgctgca ccaccgcggg ccgccgcacc tcggaccccc
     1921 gccgccgccc ccacaccagg gccaccctgg gggctggggg gcggccgccg ctgccgcagc
     1981 cgcagccgcc gccgccgccg ccgccgcgca cctcccgtcc atggccgggg gccagcagcc
     2041 gccgccgcag agtctgctct actcgcagcc cggaggcttc acggtgaacg gcatgctgag
     2101 cgcgccaccg gggcccggcg gcggcggcgg cggcgcgggc ggtggagccc agagcttggt
     2161 gcacccgggg ctggtgcgcg gggacacgcc agagctggcc gagcaccacc accaccacca
     2221 ccaccacgcg catcctcacc cgccgcaccc gcaccacgcg cagggacccc cgcaccacgg
     2281 cggcggcggc ggcggcgcgg ggcctggact caacagccac gacccgcact cggacgagga
     2341 cacgccgacg tcggacgacc tggagcagtt cgccaagcag ttcaagcagc ggcgcatcaa
     2401 gctgggcttc acgcaggccg acgtggggtt ggcgctgggc acactctacg gcaacgtgtt
     2461 ctcgcagacc accatctgcc gcttcgaggc cctgcagctg agcttcaaga acatgtgcaa
     2521 gctcaagccg ctgctgaaca agtggctgga ggaggcggac tcaagcaccg gcagccccac
     2581 aagcatcgac aagatcgcgg cgcagggccg caagcgcaag aagcggacct ctatcgaggt
     2641 gagcgtcaag ggcgcgctgg agagccactt cctcaagtgc cccaagccct ccgcgcagga
     2701 gatcaccaac ctggccgaca gcctgcagct cgagaaggag gtggtgcggg tctggttctg
     2761 caatcggcgc caaaaggaga agcgcatgac gccgcccggg atccaacagc agacgcccga
     2821 cgacgtctac tcgcaggtgg gcaccgtgag cgccgacacg ccgccgcctc accacgggct
     2881 gcagacgagc gttcagtgaa gccagggcgc agagcgaaga gggccgccgc cgccgccgcc
     2941 tccgcagccg ccgtcagcac cgccgccgcc cctgccgccg ccgccgccgc cgccgccgcc
     3001 gctgccgccg ccgcgccgac cctgcacctg ggccgctccg ggctccagcc caggcccatc
     3061 cgccgccctc ccctccaccc agagacaggc atgcccgccc ttggaggaga aaacgcggga
     3121 gaaacggacc aaggaggcat ttttgcagtc caaggaagga ggggccaaaa aataaaaagc
     3181 ataataaaca cccagactgt tttgtataca tatataacaa acaaaaccgg aagagaaaaa
     3241 gggggcgatc atgagatctc gttcatactg tggtggtgtt tcgtttttgt ttttgttttt
     3301 aaagaagggt gaagatgcct gacgcacgaa aactgcactc gtgaggtttt tccaccctga
     3361 gatgacctac acggcagcgg tggacagcac ctgcctcgtc ttctcctctt tgaaaaaaag
     3421 agagagagag agtccccttt cctttcactt tctccctcca aaacagctgc ctaaagagat
     3481 ccacggaaac tttatttcct gggagcgacc tgagagaaaa cagaggcacc aggttccatc
     3541 aggggacgac accgtgctct gggaccctgt ttttcttggc catattaaag tcatttggaa
     3601 acaaatcaac tctgaaatgg gaaggagggg ggaaaaacag tctccaagaa aaaaataatt
     3661 atattgacag cttctgaaac taacagactg aatagcaaag ccaaaagaaa agtatcctca
     3721 aagtaacctt ggaaataaaa ggatcgggaa ggagcagagg gagaggggga acgtccgctg
     3781 aggagtggcg agaggccccg gccgagtcgg gtcgcgggcg ggcgggcgaa ctgggagcag
     3841 agcgggggcc cagccagcga ggccgccgag ccaggcccgg ccgcgtaccc aggctttgac
     3901 ggctgccatt cagggtggac gatgcctaaa gattccaccg ctaatatttt ttttattaat
     3961 attttttatt ttttatttct ggactgactc agataaagga atttagaaag actgagcacc
     4021 agccgctgca cttctctgga cttctctcct caatccgttg ccaactttga ttgaatgggt
     4081 gctgtggatg tgattatata atactgccat ttccaagcag tgtttttggt aggttttaat
     4141 aaacagactt ttcaaaagac ggcaatatag aattgttaga tccgttgttg atctaaaaat
     4201 atttgcttta tattttcatt aaatgacttc ttttaatatt ttattcagaa tacttatgaa
     4261 ctgctgcaaa acggtaattt atttttcccc agatcttgta ttacgtgttt ttttcagacg
     4321 agcacaaatc aaaatgaaat gaaaatatgg acagttgtta ggtaataagg gtatcttttg
     4381 atgtgatcat ttgattgtaa tttaatttga gtagtgattc cgtaagagct gatcgagaaa
     4441 ataaatttgt tagaatgaaa
//
