LOCUS       NM_000306               1262 bp    mRNA    linear   PRI 13-APR-2013
DEFINITION  Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant
            alpha, mRNA.
ACCESSION   NM_000306
VERSION     NM_000306.2  GI:170650728
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 1262)
  AUTHORS   Herman,J.P., Jullien,N., Guillen,S., Enjalbert,A., Pellegrini,I.
            and Franc,J.L.
  TITLE     Research resource: A genome-wide study identifies potential new
            target genes for POU1F1
  JOURNAL   Mol. Endocrinol. 26 (8), 1455-1463 (2012)
   PUBMED   22638072
  REMARK    GeneRIF: New target genes of POU1F1 and downstream networks
            controlled by this factor.
REFERENCE   2  (bases 1 to 1262)
  AUTHORS   Palmieri,D., Valentino,T., De Martino,I., Esposito,F.,
            Cappabianca,P., Wierinckx,A., Vitiello,M., Lombardi,G., Colao,A.,
            Trouillas,J., Pierantoni,G.M., Fusco,A. and Fedele,M.
  TITLE     PIT1 upregulation by HMGA proteins has a role in pituitary
            tumorigenesis
  JOURNAL   Endocr. Relat. Cancer 19 (2), 123-135 (2012)
   PUBMED   22199144
  REMARK    GeneRIF: Expression analysis of HMGA1, HMGA2 and PIT1 in human
            pituitary adenomas of different histological types revealed a
            direct correlation between PIT1 and HMGA expression levels.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1262)
  AUTHORS   Hunsaker,T.L., Jefferson,H.S., Morrison,J.K., Franklin,A.J. and
            Shewchuk,B.M.
  TITLE     POU1F1-mediated activation of hGH-N by deoxyribonuclease I
            hypersensitive site II of the human growth hormone locus control
            region
  JOURNAL   J. Mol. Biol. 415 (1), 29-45 (2012)
   PUBMED   22094313
  REMARK    GeneRIF: HSII confers robust POU1F1-dependent activation of hGH-N
            in this system.
REFERENCE   4  (bases 1 to 1262)
  AUTHORS   Inoue,H., Mukai,T., Sakamoto,Y., Kimura,C., Kangawa,N., Itakura,M.,
            Ogata,T., Ito,Y. and Fujieda,K.
  CONSRTM   Japan Growth Genome Consortium
  TITLE     Identification of a novel mutation in the exon 2 splice donor site
            of the POU1F1/PIT-1 gene in Japanese identical twins with mild
            combined pituitary hormone deficiency
  JOURNAL   Clin. Endocrinol. (Oxf) 76 (1), 78-87 (2012)
   PUBMED   21722153
  REMARK    GeneRIF: This is the first report of a mutation at the exon 2 donor
            splice site of POU1F1, affecting TAD-R2.
REFERENCE   5  (bases 1 to 1262)
  AUTHORS   Campanini,M.L., Colli,L.M., Paixao,B.M., Cabral,T.P., Amaral,F.C.,
            Machado,H.R., Neder,L.S., Saggioro,F., Moreira,A.C., Antonini,S.R.
            and de Castro,M.
  TITLE     CTNNB1 gene mutations, pituitary transcription factors, and
            MicroRNA expression involvement in the pathogenesis of
            adamantinomatous craniopharyngiomas
  JOURNAL   Horm Cancer 1 (4), 187-196 (2010)
   PUBMED   21761366
  REMARK    GeneRIF: Data show no mutations in HESX1, PROP1, and POU1F1 genes,
            seven different mutations in CTNNB1 in 8/16 patients, and
            hyperexpression of miR-150.
REFERENCE   6  (bases 1 to 1262)
  AUTHORS   Ohta,K., Nobukuni,Y., Mitsubuchi,H., Ohta,T., Tohma,T., Jinno,Y.,
            Endo,F. and Matsuda,I.
  TITLE     Characterization of the gene encoding human pituitary-specific
            transcription factor, Pit-1
  JOURNAL   Gene 122 (2), 387-388 (1992)
   PUBMED   1487156
REFERENCE   7  (bases 1 to 1262)
  AUTHORS   Ohta,K., Nobukuni,Y., Mitsubuchi,H., Fujimoto,S., Matsuo,N.,
            Inagaki,H., Endo,F. and Matsuda,I.
  TITLE     Mutations in the Pit-1 gene in children with combined pituitary
            hormone deficiency
  JOURNAL   Biochem. Biophys. Res. Commun. 189 (2), 851-855 (1992)
   PUBMED   1472057
REFERENCE   8  (bases 1 to 1262)
  AUTHORS   Radovick,S., Nations,M., Du,Y., Berg,L.A., Weintraub,B.D. and
            Wondisford,F.E.
  TITLE     A mutation in the POU-homeodomain of Pit-1 responsible for combined
            pituitary hormone deficiency
  JOURNAL   Science 257 (5073), 1115-1118 (1992)
   PUBMED   1509262
REFERENCE   9  (bases 1 to 1262)
  AUTHORS   Tatsumi,K., Miyai,K., Notomi,T., Kaibe,K., Amino,N., Mizuno,Y. and
            Kohno,H.
  TITLE     Cretinism with combined hormone deficiency caused by a mutation in
            the PIT1 gene
  JOURNAL   Nat. Genet. 1 (1), 56-58 (1992)
   PUBMED   1302000
REFERENCE   10 (bases 1 to 1262)
  AUTHORS   Tatsumi,K., Notomi,T., Amino,N. and Miyai,K.
  TITLE     Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1
  JOURNAL   Biochim. Biophys. Acta 1129 (2), 231-234 (1992)
   PUBMED   1370379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D10216.1 and AC130885.3.
            On Mar 21, 2008 this sequence version replaced gi:4505954.
            
            Summary: This gene encodes a member of the POU family of
            transcription factors that regulate mammalian development. The
            protein regulates expression of several genes involved in pituitary
            development and hormone expression. Mutations in this genes result
            in combined pituitary hormone deficiency. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (alpha) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant beta,
            resulting in a shorter protein (isoform alpha).
            
            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 :: D10216.1, X62429.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1213              D10216.1           1-1213
            1214-1214           AC130885.3         26743-26743         c
            1215-1262           D10216.1           1215-1262
FEATURES             Location/Qualifiers
     source          1..1262
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11"
     gene            1..1262
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="POU class 1 homeobox 1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:9210"
                     /db_xref="HPRD:01409"
                     /db_xref="MIM:173110"
     exon            1..267
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     STS             41..1043
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /db_xref="UniSTS:486235"
     STS             77..238
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /standard_name="RH17368"
                     /db_xref="UniSTS:38210"
     misc_feature    78..80
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="upstream in-frame stop codon"
     STS             86..1041
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /db_xref="UniSTS:481989"
     CDS             126..1001
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="isoform alpha is encoded by transcript variant
                     alpha; growth hormone factor 1; pituitary-specific
                     positive transcription factor 1; pituitary-specific
                     transcription factor 1; POU domain, class 1, transcription
                     factor 1"
                     /codon_start=1
                     /product="pituitary-specific positive transcription factor
                     1 isoform alpha"
                     /protein_id="NP_000297.1"
                     /db_xref="GI:4505955"
                     /db_xref="CCDS:CCDS2919.1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:9210"
                     /db_xref="HPRD:01409"
                     /db_xref="MIM:173110"
                     /translation="

MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTAADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRRTTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLFSISKEHLECR

"
     misc_feature    495..719
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="Found in Pit-Oct-Unc transcription factors; Region:
                     POU; smart00352"
                     /db_xref="CDD:197673"
     misc_feature    768..944
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(768..782,786..788,837..839,855..857,894..896,
                     900..905,912..917,921..929,933..938)
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(774..776,783..785,903..905,912..917,924..926)
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       152
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35560664"
     variation       156
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4988459"
     variation       181
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35182189"
     exon            268..339
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     exon            340..564
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     variation       377
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4988460"
     exon            565..729
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     variation       608
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35677731"
     exon            730..790
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     exon            791..1262
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:1.39.8"
     STS             810..943
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /standard_name="POU1F1"
                     /db_xref="UniSTS:506146"
     STS             1024..1130
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /standard_name="D3S3933"
                     /db_xref="UniSTS:41134"
     variation       1140
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4988463"
     variation       1141
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:33936108"
     polyA_signal    1229..1234
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
     polyA_signal    1243..1248
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
ORIGIN      

ctcagagccttcctgatgtatatatgcaggtagtgagaattgaatcggccctttgagacagtaatataataaaactctgatttggggagcagcggttctccttatttttctactctcttgtgggaatgagttgccaagcttttacttcggctgatacctttatacctctgaattctgacgcctctgcaactctgcctctgataatgcatcacagtgctgccgagtgtctaccagtctccaaccatgccaccaatgtgatgtctacagcaacaggacttcattattctgttccttcctgtcattatggaaaccagccatcaacctatggagtgatggcaggtagtttaaccccttgtctttataaatttcctgaccacaccttgagtcatggatttcctcctatacaccagcctcttctggcagaggaccccacagctgctgatttcaagcaggaactcaggcggaaaagtaaattggtggaagagccaatagacatggattctccagaaatcagagaacttgaaaagtttgccaatgaatttaaagtgagacgaattaaattaggatacacccagacaaatgttggggaggccctggcagctgtgcatggctctgaattcagtcaaacaacaatctgccgatttgaaaatctgcagctcagctttaaaaatgcatgcaaactgaaagcaatattatccaaatggctggaggaagctgagcaagtaggagctttgtacaatgaaaaagtgggagcaaatgaaaggaaaagaaaacgaagaacaactataagcattgctgctaaagatgctctggagagacactttggagaacagaataaaccttcttctcaagagatcatgaggatggctgaagaactgaatctggagaaagaagtagtaagagtttggttttgcaaccggaggcagagagaaaaacgggtgaaaacaagtctgaatcagagtttattttctatttctaaggaacatcttgagtgcagataagatttttctattgtataatagcctttttctcccgtttcattcctttctcttcctcaacaaaaacagaaattacttggttgacttaaaatcattttatatcaatagcttttacagaagctttacttttccacttttttttaaaaaaaagaaaccaacaatttaaattatattgatgttatttacttaaaataattattctcagaagccacattgtctattttaagccaaatatattaacagtaataaaatgatctctctgtc

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5449 -> Molecular function: GO:0001077 [RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription] evidence: IEA
            GeneID:5449 -> Molecular function: GO:0001102 [RNA polymerase II activating transcription factor binding] evidence: IPI
            GeneID:5449 -> Molecular function: GO:0001105 [RNA polymerase II transcription coactivator activity] evidence: IDA
            GeneID:5449 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
            GeneID:5449 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:5449 -> Molecular function: GO:0003714 [transcription corepressor activity] evidence: IEA
            GeneID:5449 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:5449 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:5449 -> Biological process: GO:0001708 [cell fate specification] evidence: IEA
            GeneID:5449 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:5449 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA
            GeneID:5449 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: TAS
            GeneID:5449 -> Biological process: GO:0008340 [determination of adult lifespan] evidence: IEA
            GeneID:5449 -> Biological process: GO:0030183 [B cell differentiation] evidence: IEA
            GeneID:5449 -> Biological process: GO:0032962 [positive regulation of inositol trisphosphate biosynthetic process] evidence: IEA
            GeneID:5449 -> Biological process: GO:0040018 [positive regulation of multicellular organism growth] evidence: IEA
            GeneID:5449 -> Biological process: GO:0043567 [regulation of insulin-like growth factor receptor signaling pathway] evidence: IEA
            GeneID:5449 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:5449 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:5449 -> Biological process: GO:0051169 [nuclear transport] evidence: IEA
            GeneID:5449 -> Biological process: GO:0060133 [somatotropin secreting cell development] evidence: IEA
            GeneID:5449 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:5449 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:5449 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA