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

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23455 Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu23455C Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001122757.2, 574957078
Length 954 bp
Update Date 11-MAY-2014
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

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 Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (2)268..417
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (3)418..642
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (4)643..807
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (5)808..868
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Exon (6)869..1340
Gene Synonym:CPHD1; GHF-1; Pit-1; PIT1; POU1F1a
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Position Chain Variation Link
complement(84)-t, cdbSNP:369089154
complement(94)-t, cdbSNP:372288270
complement(113)-g, adbSNP:368528397
complement(131)-g, adbSNP:201156427
complement(136)-t, cdbSNP:1051612
complement(136)-g, adbSNP:386514145
complement(152)-t, cdbSNP:35560664
156+a, tdbSNP:4988459
complement(165)-g, cdbSNP:200873915
181+c, tdbSNP:35182189
complement(188)-t, gdbSNP:146118849
196+c, tdbSNP:104893757
complement(206)-t, cdbSNP:142491010
complement(225)-g, adbSNP:368440919
complement(227)-g, adbSNP:374097539
complement(242)-g, adbSNP:370682988
complement(248)-t, gdbSNP:201794303
complement(253)-t, cdbSNP:144297311
complement(286)-g, adbSNP:367977810
complement(298)-g, adbSNP:374725184
complement(322)-g, adbSNP:371295598
complement(323)-g, cdbSNP:189221434
complement(379)-t, cdbSNP:150925566
complement(391)-t, cdbSNP:112230436
complement(412)-g, adbSNP:377313136
complement(427)-t, gdbSNP:201065285
455+c, tdbSNP:4988460
complement(455)-g, adbSNP:386597146
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
607+g, tdbSNP:104893761
complement(630)-t, gdbSNP:142046308
631+a, gdbSNP:104893759
636+a, tdbSNP:104893763
complement(646)-t, cdbSNP:374079879
675+c, gdbSNP:104893756
686+c, tdbSNP:35677731
complement(691)-t, gdbSNP:200928407
717+c, tdbSNP:104893754
718+a, gdbSNP:104893765
740+c, gdbSNP:104893766
complement(773)-t, cdbSNP:367874840
complement(776)-t, gdbSNP:143471841
780+c, tdbSNP:104893758
complement(853)-t, cdbSNP:374853152
complement(882)-c, adbSNP:1131815
891+a, gdbSNP:104893764
918+c, tdbSNP:104893762
951+g, tdbSNP:104893760
1014+c, tdbSNP:104893755
complement(1022)-t, gdbSNP:377383513
complement(1054)-t, gdbSNP:371440507
complement(1070)-t, cdbSNP:144079829
complement(1076)-t, cdbSNP:144708108
complement(1112)-g, adbSNP:368569904
complement(1211)-, adbSNP:376540322
complement(1217..1218)-, adbSNP:368061882
complement(1217)-t, adbSNP:190287993
complement(1218)-tt, aadbSNP:368653404
1218+a, tdbSNP:4988463
complement(1219..1220)-, adbSNP:201314981
1219+a, tdbSNP:33936108
complement(1226..1227)-, tdbSNP:369739158
complement(1255..1258)-, ataadbSNP:370744962
complement(1263)-t, adbSNP:186969426
complement(1292)-t, cdbSNP:6792500
complement(1292)-t, cdbSNP:386605123
Gene SymbolPOU1F1
Gene SynonymCPHD1; GHF-1; Pit-1; PIT1; POU1F1a
Locus Map3p11
Title Research resource: A genome-wide study identifies potential new target genes for POU1F1 .
Author Herman JP, Jullien N, Guillen S, Enjalbert A, Pellegrini I and Franc JL.
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 GM, 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 TL, Jefferson HS, Morrison JK, Franklin AJ and Shewchuk BM.
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 ML, Colli LM, Paixao BM, Cabral TP, Amaral FC, Machado HR, Neder LS, Saggioro F, Moreira AC, Antonini SR 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 LA, Weintraub BD and Wondisford FE.
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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