LOCUS       HUMPIT1GHF              1262 bp    mRNA    linear   HUM 16-FEB-2008
DEFINITION  Homo sapiens mRNA for Pit-1/GHF-1, complete cds.
ACCESSION   D10216 D01114
VERSION     D10216.1
KEYWORDS    DNA-binding protein; POU-domain; Pit-1; homeo box.
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   Tatsumi,K.
  TITLE     Direct Submission
  JOURNAL   Submitted (26-JUL-1991) to the DDBJ/EMBL/GenBank databases.
            Contact:Keita Tatsumi
            Osaka University Medical School, Department of Laboratory
            Medicine; Yamada-oka 2-2, Suita-shi, Osaka 565, Japan
REFERENCE   2
  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, 231-234 (1992)
REFERENCE   3
  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, 56-58 (1992)
COMMENT     This mutation converts the 172nd codon for Arg(CGA) to a
            termination codon(TGA) and results in the defect of the entire
            POU- homeo region. As the patient homozygous for this mutation
            showed combined pituitary hormone deficiencies of
            thyrotropin(TSH), growhth hormone(GH) and prolaction(PRL), the
            function of the human PIT1 gene is related to the differentiation
            and/or proliferation of TSH, GH, PRL producing cells, and/or
            transcriptional activation of the TSH, GH, PRL genes.
FEATURES             Location/Qualifiers
     source          1..1262
                     /db_xref="H-InvDB:HIT000100419"
                     /db_xref="taxon:9606"
                     /mol_type="mRNA"
                     /organism="Homo sapiens"
                     /tissue_type="pituitary"
     CDS             126..1001
                     /codon_start=1
                     /function="pituitary-specific POU-domain DNA binding
                     factor"
                     /gene="pit1"
                     /product="Pit-1/GHF-1"
                     /protein_id="BAA01068.1"
                     /translation="MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNV
                     MSTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDP
                     TAADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAV
                     HGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRR
                     TTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSL
                     NQSLFSISKEHLECR"
     variation       639
                     /citation=[3]
                     /phenotype="completely functional less Pit-1/GHF-1"
                     /replace="t"
     regulatory      1229..1234
                     /regulatory_class="polyA_signal_sequence"
     regulatory      1243..1248
                     /regulatory_class="polyA_signal_sequence"
BASE COUNT          405 a          246 c          244 g          367 t
ORIGIN      
        1 ctcagagcct tcctgatgta tatatgcagg tagtgagaat tgaatcggcc ctttgagaca
       61 gtaatataat aaaactctga tttggggagc agcggttctc cttatttttc tactctcttg
      121 tgggaatgag ttgccaagct tttacttcgg ctgatacctt tatacctctg aattctgacg
      181 cctctgcaac tctgcctctg ataatgcatc acagtgctgc cgagtgtcta ccagtctcca
      241 accatgccac caatgtgatg tctacagcaa caggacttca ttattctgtt ccttcctgtc
      301 attatggaaa ccagccatca acctatggag tgatggcagg tagtttaacc ccttgtcttt
      361 ataaatttcc tgaccacacc ttgagtcatg gatttcctcc tatacaccag cctcttctgg
      421 cagaggaccc cacagctgct gatttcaagc aggaactcag gcggaaaagt aaattggtgg
      481 aagagccaat agacatggat tctccagaaa tcagagaact tgaaaagttt gccaatgaat
      541 ttaaagtgag acgaattaaa ttaggataca cccagacaaa tgttggggag gccctggcag
      601 ctgtgcatgg ctctgaattc agtcaaacaa caatctgccg atttgaaaat ctgcagctca
      661 gctttaaaaa tgcatgcaaa ctgaaagcaa tattatccaa atggctggag gaagctgagc
      721 aagtaggagc tttgtacaat gaaaaagtgg gagcaaatga aaggaaaaga aaacgaagaa
      781 caactataag cattgctgct aaagatgctc tggagagaca ctttggagaa cagaataaac
      841 cttcttctca agagatcatg aggatggctg aagaactgaa tctggagaaa gaagtagtaa
      901 gagtttggtt ttgcaaccgg aggcagagag aaaaacgggt gaaaacaagt ctgaatcaga
      961 gtttattttc tatttctaag gaacatcttg agtgcagata agatttttct attgtataat
     1021 agcctttttc tcccgtttca ttcctttctc ttcctcaaca aaaacagaaa ttacttggtt
     1081 gacttaaaat cattttatat caatagcttt tacagaagct ttacttttcc actttttttt
     1141 aaaaaaaaga aaccaacaat ttaaattata ttgatgttat ttacttaaaa taattattct
     1201 cagaagccac attatctatt ttaagccaaa tatattaaca gtaataaaat gatctctctg
     1261 tc
//