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 //