Human Gene POU1F1 (uc010hoj.1)
  Description: Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.
RefSeq Summary (NM_001122757): 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 (Including UTRs)
   Position: hg19 chr3:87,308,783-87,325,737 Size: 16,955 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr3:87,309,044-87,325,612 Size: 16,569 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:87,308,783-87,325,737)mRNA (may differ from genome)Protein (317 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POU1F1
CDC HuGE Published Literature: POU1F1
Positive Disease Associations: Cholesterol, HDL , combined pituitary hormone deficiency , Fibrinogen , mental retardation , Metabolism
Related Studies:
  1. Cholesterol, HDL
    , , . [PubMed 0]
  2. Cholesterol, HDL
    , , . [PubMed 0]
  3. combined pituitary hormone deficiency
    Turton, J. P. et al. 2005, Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency., The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4762-70. [PubMed 15928241]
    Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: POU1F1
Diseases sorted by gene-association score: pituitary hormone deficiency, combined, 1* (1231), pou1f1-related combined pituitary hormone deficiency* (500), growth hormone deficiency, isolated, type ii* (247), combined pituitary hormone deficiencies, genetic forms* (247), hypothyroidism due to deficient transcription factors involved in pituitary development or function* (247), combined pituitary hormone deficiency (29), isolated growth hormone deficiency (25), hypopituitarism (19), pituitary hypoplasia (14), septooptic dysplasia (14), hypothyroidism, congenital, nongoitrous 4 (12), pituitary hormone deficiency, combined, 2 (12), axenfeld-rieger syndrome (9), congenital hypothyroidism (9), borjeson-forssman-lehmann syndrome (8), pituitary adenoma (8), pituitary tumors (8), acth deficiency (7), pituitary stalk interruption syndrome (5), craniopharyngioma (5), pituitary gland disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.32 RPKM in Pituitary
Total median expression: 61.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.30125-0.234 Picture PostScript Text
3' UTR -29.10261-0.111 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00046 - Homeobox domain
PF00157 - Pou domain - N-terminal to homeobox domain

SCOP Domains:
47413 - lambda repressor-like DNA-binding domains
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on P28069-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  D10216 - Homo sapiens mRNA for Pit-1/GHF-1, complete cds.
E07104 - cDNA encoding a factor PitI,which enhances transcription activity of human growth hormone gene and human prolactin gene.
X62429 - H.sapiens mRNA for transcription factor Pit-1.
JD519202 - Sequence 500226 from Patent EP1572962.
L18781 - Homo sapiens Pit-1/GHF-1 variant mRNA, complete cds.
X72215 - H.sapiens mRNA for variant of transcription factor.
BC152851 - Synthetic construct Homo sapiens clone IMAGE:100016074, MGC:184208 POU class 1 homeobox 1 (POU1F1) mRNA, encodes complete protein.
AB587506 - Synthetic construct DNA, clone: pF1KB9698, Homo sapiens POU1F1 gene for POU class 1 homeobox 1, without stop codon, in Flexi system.
S73501 - Homo sapiens Pit-1 beta (Pit-1) mRNA, partial cds, alternatively spliced.
JD359034 - Sequence 340058 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: GHF1, NM_001122757, NP_001116229, P28069-2, PIT1
UCSC ID: uc010hoj.1
RefSeq Accession: NM_001122757
Protein: P28069-2, splice isoform of P28069 CCDS: CCDS46873.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001122757.1
exon count: 6CDS single in 3' UTR: no RNA size: 1340
ORF size: 954CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2087.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.