LOCUS BAA01068.1 291 aa PRT HUM 16-FEB-2008 DEFINITION Homo sapiens Pit-1/GHF-1 protein. ACCESSION D10216-1 PROTEIN_ID BAA01068.1 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 Qualifiers source /db_xref="H-InvDB:HIT000100419" /db_xref="taxon:9606" /mol_type="mRNA" /organism="Homo sapiens" /tissue_type="pituitary" protein /function="pituitary-specific POU-domain DNA binding factor" /gene="pit1" BEGIN 1 MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG LHYSVPSCHY 61 GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE DPTAADFKQE LRRKSKLVEE 121 PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ TNVGEALAAV HGSEFSQTTI CRFENLQLSF 181 KNACKLKAIL SKWLEEAEQV GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS 241 SQEIMRMAEE LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R //