LOCUS       NM_006237               4539 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.
ACCESSION   NM_006237 XM_001127734 XM_001133287
VERSION     NM_006237.4
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 4539)
  AUTHORS   Zhang,J., Miao,N., Lao,L., Deng,W., Wang,J., Zhu,X., Huang,Y.,
            Lin,H., Zeng,W., Zhang,W., Tan,L., Yuan,X., Zeng,X., Zhu,J.,
            Chen,X., Song,E., Yang,L., Nie,Y. and Huang,D.
  TITLE     Activation of Bivalent Gene POU4F1 Promotes and Maintains
            Basal-like Breast Cancer
  JOURNAL   Adv Sci (Weinh) 11 (20), e2307660 (2024)
   PUBMED   38491910
  REMARK    GeneRIF: Activation of Bivalent Gene POU4F1 Promotes and Maintains
            Basal-like Breast Cancer.
REFERENCE   2  (bases 1 to 4539)
  AUTHORS   Heppt,M.V., Wessely,A., Hornig,E., Kammerbauer,C., Graf,S.A.,
            Besch,R., French,L.E., Matthies,A., Kuphal,S., Kappelmann-Fenzl,M.,
            Bosserhoff,A.K. and Berking,C.
  TITLE     HDAC2 Is Involved in the Regulation of BRN3A in Melanocytes and
            Melanoma
  JOURNAL   Int J Mol Sci 23 (2), 849 (2022)
   PUBMED   35055045
  REMARK    GeneRIF: HDAC2 Is Involved in the Regulation of BRN3A in
            Melanocytes and Melanoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4539)
  AUTHORS   Webb,B.D., Evans,A., Naidich,T.P., M Bird,L., Parikh,S., Fernandez
            Garcia,M., Henderson,L.B., Millan,F., Si,Y., Brennand,K.J.,
            Hung,P., Rucker,J.C., Wheeler,P.G. and Schadt,E.E.
  TITLE     Haploinsufficiency of POU4F1 causes an ataxia syndrome with
            hypotonia and intention tremor
  JOURNAL   Hum Mutat 42 (6), 685-693 (2021)
   PUBMED   33783914
  REMARK    GeneRIF: Haploinsufficiency of POU4F1 causes an ataxia syndrome
            with hypotonia and intention tremor.
REFERENCE   4  (bases 1 to 4539)
  AUTHORS   Wu,D., Jia,H.Y., Wei,N. and Li,S.J.
  TITLE     POU4F1 confers trastuzumab resistance in HER2-positive breast
            cancer through regulating ERK1/2 signaling pathway
  JOURNAL   Biochem Biophys Res Commun 533 (3), 533-539 (2020)
   PUBMED   32988584
  REMARK    GeneRIF: POU4F1 confers trastuzumab resistance in HER2-positive
            breast cancer through regulating ERK1/2 signaling pathway.
REFERENCE   5  (bases 1 to 4539)
  AUTHORS   Smith,M.D., Dawson,S.J. and Latchman,D.S.
  TITLE     Inhibition of neuronal process outgrowth and neuronal specific gene
            activation by the Brn-3b transcription factor
  JOURNAL   J Biol Chem 272 (2), 1382-1388 (1997)
   PUBMED   8995448
REFERENCE   6  (bases 1 to 4539)
  AUTHORS   Still,I.H. and Cowell,J.
  TITLE     The Brn-3a transcription factor gene (POU4F1) maps close to the
            locus for the variant late infantile form of neuronal
            ceroid-lipofuscinosis
  JOURNAL   Cytogenet Cell Genet 74 (3), 225-226 (1996)
   PUBMED   8941380
REFERENCE   7  (bases 1 to 4539)
  AUTHORS   Xiang,M., Zhou,L., Macke,J.P., Yoshioka,T., Hendry,S.H., Eddy,R.L.,
            Shows,T.B. and Nathans,J.
  TITLE     The Brn-3 family of POU-domain factors: primary structure, binding
            specificity, and expression in subsets of retinal ganglion cells
            and somatosensory neurons
  JOURNAL   J Neurosci 15 (7 Pt 1), 4762-4785 (1995)
   PUBMED   7623109
REFERENCE   8  (bases 1 to 4539)
  AUTHORS   Gerrero,M.R., McEvilly,R.J., Turner,E., Lin,C.R., O'Connell,S.,
            Jenne,K.J., Hobbs,M.V. and Rosenfeld,M.G.
  TITLE     Brn-3.0: a POU-domain protein expressed in the sensory, immune, and
            endocrine systems that functions on elements distinct from known
            octamer motifs
  JOURNAL   Proc Natl Acad Sci U S A 90 (22), 10841-10845 (1993)
   PUBMED   8248179
REFERENCE   9  (bases 1 to 4539)
  AUTHORS   Bhargava,A.K., Li,Z. and Weissman,S.M.
  TITLE     Differential expression of four members of the POU family of
            proteins in activated and phorbol 12-myristate 13-acetate-treated
            Jurkat T cells
  JOURNAL   Proc Natl Acad Sci U S A 90 (21), 10260-10264 (1993)
   PUBMED   8234287
REFERENCE   10 (bases 1 to 4539)
  AUTHORS   Collum,R.G., Fisher,P.E., Datta,M., Mellis,S., Thiele,C.,
            Huebner,K., Croce,C.M., Israel,M.A., Theil,T., Moroy,T. et al.
  TITLE     A novel POU homeodomain gene specifically expressed in cells of the
            developing mammalian nervous system
  JOURNAL   Nucleic Acids Res 20 (18), 4919-4925 (1992)
   PUBMED   1357630
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L20433.1, AL445209.4,
            BM714015.1, N74107.1 and BM726529.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006237.3.
            
            Summary: This gene encodes a member of the POU-IV class of neural
            transcription factors. This protein is expressed in a subset of
            retinal ganglion cells and may be involved in the developing
            sensory nervous system. This protein may also promote the growth of
            cervical tumors. A translocation of this gene is associated with
            some adult acute myeloid leukemias. [provided by RefSeq, Mar 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 :: L20433.1, ERR3218374.302347.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377208.7/ ENSP00000366413.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-712               L20433.1           9-720
            713-932             AL445209.4         119191-119410       c
            933-2333            L20433.1           944-2344
            2334-2335           AL445209.4         117788-117789       c
            2336-3469           L20433.1           2347-3480
            3470-3719           BM714015.1         153-402
            3720-3734           N74107.1           1-15                c
            3735-3809           BM726529.1         1-75
            3810-4539           AL445209.4         115584-116313       c
FEATURES             Location/Qualifiers
     source          1..4539
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q31.1"
     gene            1..4539
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="POU class 4 homeobox 1"
                     /db_xref="GeneID:5457"
                     /db_xref="HGNC:HGNC:9218"
                     /db_xref="MIM:601632"
     exon            1..349
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..1486
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="homeobox/POU domain protein RDC-1; brain-specific
                     homeobox/POU domain protein 3A"
                     /codon_start=1
                     /product="POU domain, class 4, transcription factor 1"
                     /protein_id="NP_006228.3"
                     /db_xref="CCDS:CCDS31996.1"
                     /db_xref="GeneID:5457"
                     /db_xref="HGNC:HGNC:9218"
                     /db_xref="MIM:601632"
                     /translation="MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQS
                     NLFASLDETLLARAEALAAVDIAVSQGKSHPFKPDATYHTMNSVPCTSTSTVPLAHHH
                     HHHHHHQALEPGDLLDHISSPSLALMAGAGGAGAAAGGGGAHDGPGGGGGPGGGGGPG
                     GGPGGGGGGGPGGGGGGPGGGLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPG
                     LVAAAAHHGAAAAAAAAAAGQVAAASAAAAVVGAAGLASICDSDTDPRELEAFAERFK
                     QRRIKLGVTQADVGSALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPILQAWLE
                     EAEGAQREKMNKPELFNGGEKKRKRTSIAAPEKRSLEAYFAVQPRPSSEKIAAIAEKL
                     DLKKNVVRVWFCNQRQKQKRMKFSATY"
     exon            350..4539
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1938..1943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="hexamer: AATAAA"
     polyA_site      1960
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="major polyA site"
     regulatory      3704..3709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="hexamer: AATAAA"
     polyA_site      3729
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="major polyA site"
     regulatory      3938..3943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="hexamer: AATAAA"
     polyA_site      3958
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="major polyA site"
     regulatory      4517..4522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
                     /note="hexamer: AATAAA"
     polyA_site      4539
                     /gene="POU4F1"
                     /gene_synonym="ATITHS; brn-3A; BRN3A; Oct-T1; RDC-1"
ORIGIN      
        1 agagctgtcg gagaagcggg accgcgaggc cggcgcgcgg cgctctgcgc ggtcagaggg
       61 agcgcctggc agcagcagga gcagcagcag cagcccgcgg cggggccgcc gccagccgcc
      121 gcgaccgccg cggctgcagc ctccgaaggg aggccgggtg agccggcgta cgcactttcc
      181 cgcggacttt cggagtgttt gtggatatac atgccaagcc gccacgatga tgtccatgaa
      241 cagcaagcag cctcactttg ccatgcatcc caccctccct gagcacaagt acccgtcgct
      301 gcactccagc tccgaggcca tccggcgggc ctgcctgccc acgccgccgc tgcagagcaa
      361 cctcttcgcc agcctggacg agacgctgct ggcgcgggcc gaggcgctgg cggccgtgga
      421 catcgccgtg tcccagggca agagccatcc tttcaagccg gacgccacgt accacacgat
      481 gaacagcgtg ccgtgcacgt ccacttccac ggtgcctctg gcgcaccacc accaccacca
      541 ccaccaccac caggcgctcg aacccggcga tctgctggac cacatctcct cgccgtcgct
      601 cgcgctcatg gccggcgcgg gcggcgcggg cgcggcggcc ggcggcggcg gcgcccacga
      661 cggcccgggg ggcggtggcg gcccgggcgg cggcggcggc ccgggcggcg gccccggggg
      721 aggcggcggt ggcggcccgg ggggcggcgg cggcggcccg ggcggcgggc tcctgggcgg
      781 ctccgcgcac cctcacccgc atatgcacag cctgggccac ctgtcgcacc ccgcggcggc
      841 ggccgccatg aacatgccgt ccgggctgcc gcaccccggg ctggtggcgg cggcggcgca
      901 ccacggcgcg gcagcggcag cggcggcggc ggcggccggg caggtggcag cggcatcggc
      961 ggcggcggcc gtggtgggcg cagcgggcct ggcgtccatc tgcgactcgg acacggaccc
     1021 gcgcgagctc gaggcgttcg cggagcgctt caagcagcgg cgcatcaagc tgggcgtgac
     1081 gcaggccgac gtgggctcgg cgctggccaa cctcaagatc ccgggcgtgg gctcactcag
     1141 ccagagcacc atctgcaggt tcgagtcgct cacgctctcg cacaacaaca tgatcgcgct
     1201 caagcccatc ctgcaggcgt ggctcgagga ggccgagggc gcccagcgcg agaaaatgaa
     1261 caagcctgag ctcttcaacg gcggcgagaa gaagcgcaag cggacttcca tcgccgcgcc
     1321 cgagaagcgc tccctcgagg cctacttcgc cgtgcagccc cggccctcgt ccgagaagat
     1381 cgccgccatc gccgagaaac tggacctcaa aaagaacgtg gtgcgggtgt ggttttgcaa
     1441 ccagagacag aagcagaagc ggatgaaatt ctctgccact tactgagggg gctgggaggt
     1501 gtcgggcggg acagaatggg gagctgagga ggcatttttg gggggctttc ctctgcttgc
     1561 ctcccctcgg atttggagtg tccgttatcc tgcctgcatt tggggagtcc cttctcgctc
     1621 tctttcctcc acccattctc tgattttcct gcctttgctg tcccctagcc ttgaggactg
     1681 gggtgctggg tgtggggatt ggagtatagg gtaggggaga agggggggag cattcggggg
     1741 agtggggagt ggggggaagg aaagcggaga cccgagcagg ggttttaagg agcaggatgg
     1801 ttctggggtt tgggtggggg gagacgcggg aagggtagga aaatggactg tttctgacca
     1861 gagacactta cctaaatatc ctggggacca aggaactatg tacaaaaaca aacctaccaa
     1921 ccaccaaaaa ctagacaaat aaagacaaac taaaacaaaa cagaacaaaa gcaaaggaaa
     1981 atgctttaga aattttaact ccggggagcc ataatctgca acttcatttt cccccataga
     2041 agagaaaaaa gagcaccacc attattacca cctccccaac cctacacgca cgaactgagt
     2101 cgaaaaacga aaaccaaacg agcgagaagt tgaagttctg ggtatcaaag ctagttgttc
     2161 tgtctgcgtg tttaattttt ccctctctca cctccacccc atccatatcc tctttatttc
     2221 ctccgttcca atgagaggcc tatggctgct ctccaatccc gggaagtgag tgggagcaca
     2281 gctgaaaaga gagggtcagg gggaggctgg ctgcttgctt aggtggaatc caagttttcc
     2341 cgtggccctg cctatactct ggtggcctgg tcctgttggg gtgggggtct ttggagagaa
     2401 gggcatagtc tttgagctac taaaaagcag aattccggag cttcgagata tcttattcta
     2461 ggaaaatgaa acaattttaa caacagtttt ttttcctctt atgtcgaaga tctagtttta
     2521 gacaatttca aaataagctt ttcccactca tagaacttta acttgccctt tcagttttat
     2581 ctttttttta gagagaggtt taaactactg atttttcctg ttgattcaaa tagactaatg
     2641 gggtgaaagt tattaggaga gatactctct cctgttttct ccactgaacg agactcatct
     2701 tgctcttcta ggtcccgttt cttcctctct tggaggacat gaaattatag aaatgttgag
     2761 aagttcctgc tttcttttgc ggtaggactt ggctgtgaga aaatcaccta aatcccagaa
     2821 aagaggaaga cagatttaaa gtgcccccac ccccatttgt ttcaaagagg tctgcatgtt
     2881 gggcgaaaac agaacaactg tgtttccttt tacttgttct tattattcaa gagtcattta
     2941 ttacagggga taaatgttgg gtagcaagaa ctttaatttg cactaccagt ctcccaaata
     3001 gaaaatcatg tatagtattt catagtaata atcaggtacc ttacaagctg ctggtggatt
     3061 ttaaaaaatt aagatagttg aaggtggtta ggtaaaatgc ctgctttgtg tacaagatac
     3121 tctttggatc tctcgtagag atggtttgtt accatccttt aatcataact aaaacattga
     3181 aaacagaaca aatgagaaaa gaaaaaaaac ctgccgatta acaagactga aatcatgcat
     3241 gatctgaaag gtgtggaaag aaacacaatt aggtctcact ctggttaggc attatttatt
     3301 taattatgtt gtatatcatt gtttgcaggg caaacattct atgcatttga aactgagcac
     3361 taaactgggc tagctttctg gtagaccgtt ttgtggctag tgcgatttca cagtctactg
     3421 cctgtttcca ctgaaaacat ttttgtcata ttcttgtatt caaagaaaaa ggaaaaaaga
     3481 ttattgtaaa tattttattt aatgcacaca ttcacacagt ggtaacagac tgccagtgtt
     3541 catcctgaaa tgtctcacgg attgatctac ctgtccatgt atgtctgctg agctttctcc
     3601 ttggttatgt tttttctctt ttacctttct cctcccttac ttctatcaga accaattcta
     3661 tgcgccaaaa tacaacaggg ggatgtgtcc cagtacactt acaaataaaa cataactgaa
     3721 agaagagcag ttttatgatt tgggtgcgtt tttgtgttta tactgggcca ggtcctggta
     3781 gaacctttca acaaacaacc aaacaaaaag aaaacacaaa gaaatggggg gagggtaggg
     3841 tgttgaaggg ggacaaaaag gggagagatt gagaatgatg tatttttttg ctgaatcaga
     3901 attcactttc agataactca tgaaaagtgg tgctctaaat aaaatgaatt ctatattagt
     3961 tgcctgtgtt tataaaagtt attatttttt aactgcagaa actcttaaac cacagcactt
     4021 gatccagagt ggtgaaaacc aataaataac caggcaccca aaaaacattt aaatttaggg
     4081 tcagggacag aggaatttgg aggtttagat gtgatattct accctaaaaa cacctagtaa
     4141 ctgaatggct tttctttgga gggtaataca ttttaaaaca tttagtgtgc cacctactgc
     4201 tccacagtga ctagagagcc tctatttctt ggtgacttgg gactagatca gatgccaaat
     4261 gtacaaagtt tcttaagagt tgagattata tcatctgaag tcatcttatt ttagccaaat
     4321 ctttttaatt tcaccggcaa atctgtgaag gaaaacactt gatgttcaaa aagaatagta
     4381 cattttaaaa gctgcgattt taaacagttg ttaatgttaa aaaaaaaaag cactagaggt
     4441 atttttaaac atagaactct tccataaaaa gttgatttgt ttttgctgtt attgacttga
     4501 aacatcatca gttttaaata aaatgcattt gtaaaaaaa
//
