LOCUS       NM_000306               1488 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant
            alpha, mRNA.
ACCESSION   NM_000306
VERSION     NM_000306.4
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 1488)
  AUTHORS   Xiao,P., Zhu,Y., Xu,H., Li,J., Tao,A., Wang,H., Cheng,D., Dou,X.
            and Guo,L.
  TITLE     CTGF regulates mineralization in human mature chondrocyte by
            controlling Pit-1 and modulating ANK via the BMP/Smad signalling
  JOURNAL   Cytokine 174, 156460 (2024)
   PUBMED   38134555
  REMARK    GeneRIF: CTGF regulates mineralization in human mature chondrocyte
            by controlling Pit-1 and modulating ANK via the BMP/Smad
            signalling.
REFERENCE   2  (bases 1 to 1488)
  AUTHORS   Dottermusch,M., Ryba,A., Ricklefs,F.L., Flitsch,J., Schmid,S.,
            Glatzel,M., Saeger,W., Neumann,J.E. and Schuller,U.
  TITLE     Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show
            distinct clinicopathological and molecular features
  JOURNAL   Acta Neuropathol 147 (1), 16 (2024)
   PUBMED   38228887
  REMARK    GeneRIF: Pituitary neuroendocrine tumors with PIT1/SF1
            co-expression show distinct clinicopathological and molecular
            features.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1488)
  AUTHORS   Urai,S., Iguchi,G., Kanie,K., Bando,H., Yamamoto,M., Oi,Y.,
            Kashitani,Y., Iida,K., Kanzawa,M., Fukuoka,H., Takahashi,M.,
            Shintani,Y., Ogawa,W. and Takahashi,Y.
  TITLE     Clinical features of anti-pituitary-specific transcription factor-1
            (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune
            condition
  JOURNAL   Eur J Endocrinol 190 (1), K1-K7 (2024)
   PUBMED   38146732
  REMARK    GeneRIF: Clinical features of anti-pituitary-specific transcription
            factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic
            autoimmune condition.
REFERENCE   4  (bases 1 to 1488)
  AUTHORS   Yang,W., Feng,Y., Yan,J., Kang,C., Yao,T., Sun,H. and Cheng,Z.
  TITLE     Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in
            Salmonella-Containing Vacuole in HeLa Cells
  JOURNAL   Int J Mol Sci 24 (24), 17216 (2023)
   PUBMED   38139044
  REMARK    GeneRIF: Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in
            Salmonella-Containing Vacuole in HeLa Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1488)
  AUTHORS   Kirkgoz,T., Gursoy,S., Acar,S., Nalbantoglu,O., Ozkaya,B., Anil
            Korkmaz,H., Hazan,F. and Ozkan,B.
  TITLE     Genetic diagnosis of congenital hypopituitarism in Turkish patients
            by a target gene panel: novel pathogenic variants in GHRHR, GLI2,
            LHX4 and POU1F1 genes
  JOURNAL   Arch Endocrinol Metab 68, e220254 (2023)
   PUBMED   37948564
  REMARK    GeneRIF: Genetic diagnosis of congenital hypopituitarism in Turkish
            patients by a target gene panel: novel pathogenic variants in
            GHRHR, GLI2, LHX4 and POU1F1 genes.
REFERENCE   6  (bases 1 to 1488)
  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 1488)
  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 1488)
  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 1488)
  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 1488)
  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, KF457648.1 and
            AC130885.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000306.3.
            
            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]
            RNAseq introns              :: partial sample support SAMEA2158188,
                                           SAMEA2162895 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350375.7/ ENSP00000263781.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1210              D10216.1           4-1213
            1211-1211           KF457648.1         194-194             c
            1212-1259           D10216.1           1215-1262
            1260-1404           KF457648.1         1-145               c
            1405-1488           AC130885.3         26466-26549         c
FEATURES             Location/Qualifiers
     source          1..1488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p11.2"
     gene            1..1488
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="POU class 1 homeobox 1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:HGNC:9210"
                     /db_xref="MIM:173110"
     exon            1..264
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..998
                     /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; POU domain, class 1,
                     transcription factor 1; pituitary transcript factor 1"
                     /codon_start=1
                     /product="pituitary-specific positive transcription factor
                     1 isoform alpha"
                     /protein_id="NP_000297.1"
                     /db_xref="CCDS:CCDS2919.1"
                     /db_xref="GeneID:5449"
                     /db_xref="HGNC:HGNC:9210"
                     /db_xref="MIM:173110"
                     /translation="MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNV
                     MSTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDP
                     TAADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAV
                     HGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRR
                     TTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSL
                     NQSLFSISKEHLECR"
     exon            265..336
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     exon            337..561
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     exon            562..726
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     exon            727..787
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     exon            788..1488
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1240..1245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="hexamer: AATAAA"
     polyA_site      1259
                     /gene="POU1F1"
                     /gene_synonym="CPHD1; GHF-1; Pit-1; PIT1; POU1F1a"
                     /note="major polyA site"
ORIGIN      
        1 agagccttcc tgatgtatat atgcaggtag tgagaattga atcggccctt tgagacagta
       61 atataataaa actctgattt ggggagcagc ggttctcctt atttttctac tctcttgtgg
      121 gaatgagttg ccaagctttt acttcggctg atacctttat acctctgaat tctgacgcct
      181 ctgcaactct gcctctgata atgcatcaca gtgctgccga gtgtctacca gtctccaacc
      241 atgccaccaa tgtgatgtct acagcaacag gacttcatta ttctgttcct tcctgtcatt
      301 atggaaacca gccatcaacc tatggagtga tggcaggtag tttaacccct tgtctttata
      361 aatttcctga ccacaccttg agtcatggat ttcctcctat acaccagcct cttctggcag
      421 aggaccccac agctgctgat ttcaagcagg aactcaggcg gaaaagtaaa ttggtggaag
      481 agccaataga catggattct ccagaaatca gagaacttga aaagtttgcc aatgaattta
      541 aagtgagacg aattaaatta ggatacaccc agacaaatgt tggggaggcc ctggcagctg
      601 tgcatggctc tgaattcagt caaacaacaa tctgccgatt tgaaaatctg cagctcagct
      661 ttaaaaatgc atgcaaactg aaagcaatat tatccaaatg gctggaggaa gctgagcaag
      721 taggagcttt gtacaatgaa aaagtgggag caaatgaaag gaaaagaaaa cgaagaacaa
      781 ctataagcat tgctgctaaa gatgctctgg agagacactt tggagaacag aataaacctt
      841 cttctcaaga gatcatgagg atggctgaag aactgaatct ggagaaagaa gtagtaagag
      901 tttggttttg caaccggagg cagagagaaa aacgggtgaa aacaagtctg aatcagagtt
      961 tattttctat ttctaaggaa catcttgagt gcagataaga tttttctatt gtataatagc
     1021 ctttttctcc cgtttcattc ctttctcttc ctcaacaaaa acagaaatta cttggttgac
     1081 ttaaaatcat tttatatcaa tagcttttac agaagcttta cttttccact tttttttaaa
     1141 aaaaagaaac caacaattta aattatattg atgttattta cttaaaataa ttattctcag
     1201 aagccacatt atctatttta agccaaatat attaacagta ataaaatgat ctctctgtct
     1261 ctcccgctct ctttctcaca cacacgcaga catatgagta tgggtttata agttcctttt
     1321 ccaaacatgt atattagctt tttaacatgt aagtcagtaa tgacacatat gtaaagcaca
     1381 tcaccagaaa tatccaattc aaaaattaac caatgttctg ctttctacca actctactaa
     1441 tttgtctgaa ctaaaagttt tgaacttaag agctggaggt gtcttata
//
