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Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.


RefSeq Accession Definition Services Price Order
NM_001122757 Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. ORF Sequence $276.66
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RefSeq Version NM_001122757.1, 170650729
Length 1340 bp
Structure linear
Update Date 29-DEC-2012
Organism Homo sapiens (human)
Definition Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.
Product pituitary-specific positive transcription factor 1 isoform beta
Comment

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 (beta), also known as GHF-2 or PIT-2, represents the longer transcript and encodes the longer isoform (beta).


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_001116229.1
CDS 126..1079
Misc Feature(1)78..80
Misc Feature(2)573..797
Misc Feature(3)573..797
Misc Feature(4)846..1022
Misc Feature(5)order(846..860,864..866,915..917,933..935,972..974,
Misc Feature(6)order(852..854,861..863,981..983,990..995,1002..1004)
Exon (1)1..267
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (2)268..417
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (3)418..642
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (4)643..807
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (5)808..868
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (6)869..1340
Gene:POU1F1
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Translation MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTVPSILSLIQTPKC LCTHFSVTTLGNTATGLHYSVPSCHYGNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIH QPLLAEDPTAADFKQELRRKSKLVEEPIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVG EALAAVHGSEFSQTTICRFENLQLSFKNACKLKAILSKWLEEAEQVGALYNEKVGANERK RKRRTTISIAAKDALERHFGEQNKPSSQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKT SLNQSLFSISKEHLECR
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Position Chain Variation Link
complement(131)-g, adbSNP:201156427
complement(136)-t, cdbSNP:1051612
complement(152)-t, cdbSNP:35560664
complement(156)-t, adbSNP:4988459
complement(165)-g, cdbSNP:200873915
complement(181)-t, cdbSNP:35182189
complement(188)-t, gdbSNP:146118849
complement(196)-t, cdbSNP:104893757
complement(206)-t, cdbSNP:142491010
complement(248)-t, gdbSNP:201794303
complement(253)-t, cdbSNP:144297311
complement(323)-dbSNP:
complement(323)-g, cdbSNP:189221434
complement(342)-t, adbSNP:35893626
complement(379)-t, cdbSNP:150925566
complement(391)-t, cdbSNP:112230436
complement(409)-g, adbSNP:148406748
complement(427)-dbSNP:
complement(427)-t, gdbSNP:201065285
complement(455)-t, cdbSNP:4988460
complement(461)-t, cdbSNP:142837047
complement(540)-g, adbSNP:138356138
complement(568)-g, adbSNP:141400089
complement(573)-t, cdbSNP:143373007
complement(592)-g, cdbSNP:147095437
complement(607)-t, gdbSNP:104893761
complement(630)-t, gdbSNP:142046308
complement(631)-g, adbSNP:104893759
complement(636)-t, adbSNP:104893763
complement(675)-dbSNP:
complement(675)-g, cdbSNP:104893756
complement(686)-t, cdbSNP:35677731
complement(691)-t, gdbSNP:200928407
complement(717)-t, cdbSNP:104893754
complement(718)-g, adbSNP:104893765
complement(740)-g, cdbSNP:104893766
complement(776)-t, gdbSNP:143471841
complement(780)-t, cdbSNP:104893758
complement(882)-dbSNP:
complement(882)-c, adbSNP:1131815
complement(891)-g, adbSNP:104893764
complement(918)-t, cdbSNP:104893762
complement(951)-t, gdbSNP:104893760
complement(1014)-t, cdbSNP:104893755
complement(1070)-t, cdbSNP:144079829
complement(1076)-t, cdbSNP:144708108
complement(1217)-t, adbSNP:190287993
complement(1218)-t, adbSNP:4988463
complement(1219..1220)-, adbSNP:201314981
complement(1219)-t, adbSNP:33936108
complement(1263)-t, adbSNP:186969426
complement(1292)-t, cdbSNP:6792500
Gene SymbolPOU1F1
Gene SynonymCPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Chromosome3
Locus Map3p11
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000306 Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant alpha, mRNA. Full Length $365.98
ORF Sequence $254.04
NM_001122757 Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. Full Length $388.60
ORF Sequence $276.66
Title Research resource: A genome-wide study identifies potential new target genes for POU1F1 .
Author Herman,J.P., Jullien,N., Guillen,S., Enjalbert,A., Pellegrini,I. and Franc,J.L.
Journal Mol. Endocrinol. 26 (8), 1455-1463 (2012)
Title PIT1 upregulation by HMGA proteins has a role in pituitary tumorigenesis .
Author 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.
Journal Endocr. Relat. Cancer 19 (2), 123-135 (2012)
Title POU1F1-mediated activation of hGH-N by deoxyribonuclease I hypersensitive site II of the human growth hormone locus control region .
Author Hunsaker,T.L., Jefferson,H.S., Morrison,J.K., Franklin,A.J. and Shewchuk,B.M.
Journal J. Mol. Biol. 415 (1), 29-45 (2012)
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 .
Author Inoue,H., Mukai,T., Sakamoto,Y., Kimura,C., Kangawa,N., Itakura,M., Ogata,T., Ito,Y. and Fujieda,K.
Journal Clin. Endocrinol. (Oxf) 76 (1), 78-87 (2012)
Title CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas .
Author 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.
Journal Horm Cancer 1 (4), 187-196 (2010)
Title Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1 .
Author Ohta,K., Nobukuni,Y., Mitsubuchi,H., Ohta,T., Tohma,T., Jinno,Y., Endo,F. and Matsuda,I.
Journal Gene 122 (2), 387-388 (1992)
Title Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency .
Author Ohta,K., Nobukuni,Y., Mitsubuchi,H., Fujimoto,S., Matsuo,N., Inagaki,H., Endo,F. and Matsuda,I.
Journal Biochem. Biophys. Res. Commun. 189 (2), 851-855 (1992)
Title A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency .
Author Radovick,S., Nations,M., Du,Y., Berg,L.A., Weintraub,B.D. and Wondisford,F.E.
Journal Science 257 (5073), 1115-1118 (1992)
Title Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene .
Author Tatsumi,K., Miyai,K., Notomi,T., Kaibe,K., Amino,N., Mizuno,Y. and Kohno,H.
Journal Nat. Genet. 1 (1), 56-58 (1992)
Title Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1 .
Author Tatsumi,K., Notomi,T., Amino,N. and Miyai,K.
Journal Biochim. Biophys. Acta 1129 (2), 231-234 (1992)

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