Human Gene POU2F1 (uc001gef.3)
  Description: Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.
RefSeq Summary (NM_001198783): The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010].
Transcript (Including UTRs)
   Position: hg19 chr1:167,298,281-167,396,582 Size: 98,302 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr1:167,298,516-167,385,047 Size: 86,532 Coding Exon Count: 16 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:167,298,281-167,396,582)mRNA (may differ from genome)Protein (755 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid 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): POU2F1
CDC HuGE Published Literature: POU2F1
Positive Disease Associations: Alzheimer's Disease , Erythrocyte Count , plasma levels of liver enzymes
Related Studies:
  1. Alzheimer's Disease
    Taguchi, K. et al. 2005, Identification of hippocampus-related candidate genes for Alzheimer's disease., Annals of neurology. 2005 Apr;57(4):585-8. [PubMed 15786443]
    Our results suggest that POU2F1 is a candidate gene for AD.
  2. Erythrocyte Count
    , , . [PubMed 0]
  3. plasma levels of liver enzymes
    Yuan ,et al. 2008, Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes, American journal of human genetics 2008 83- 4 : 520-8. [PubMed 18940312]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: POU2F1
Diseases sorted by gene-association score: herpes simplex (9), primary amebic meningoencephalitis (1)

-  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: 6.75 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 125.47 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 -38.80235-0.165 Picture PostScript Text
3' UTR -3381.8911535-0.293 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 P14859-2
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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
  LF205434 - JP 2014500723-A/12937: Polycomb-Associated Non-Coding RNAs.
AK302525 - Homo sapiens cDNA FLJ59165 complete cds, highly similar to POU domain, class 2, transcription factor 1.
AK308004 - Homo sapiens cDNA, FLJ97952.
AK303201 - Homo sapiens cDNA FLJ57693 complete cds, highly similar to POU domain, class 2, transcription factor 1.
AK091438 - Homo sapiens cDNA FLJ34119 fis, clone FCBBF3009464, highly similar to POU domain, class 2, transcription factor 1.
BC052274 - Homo sapiens POU class 2 homeobox 1, mRNA (cDNA clone MGC:59844 IMAGE:4622256), complete cds.
X13403 - Human mRNA for octamer-binding protein Oct-1.
KT438684 - Homo sapiens POU class 2 homeobox 1 (POU2F1) mRNA, complete cds.
AY113189 - Homo sapiens OCT-1 protein (POU2F1) mRNA, complete cds.
BC001664 - Homo sapiens POU class 2 homeobox 1, mRNA (cDNA clone MGC:1676 IMAGE:2966289), complete cds.
BC003571 - Homo sapiens POU class 2 homeobox 1, mRNA (cDNA clone MGC:2114 IMAGE:3544378), complete cds.
MH025885 - Homo sapiens POU class 2 homeobox 1 isoform Oct-1R (POU2F1) mRNA, complete cds, alternatively spliced.
KJ901652 - Synthetic construct Homo sapiens clone ccsbBroadEn_11046 POU2F1 gene, encodes complete protein.
AB463190 - Synthetic construct DNA, clone: pF1KB9569, Homo sapiens POU2F1 gene for POU class 2 homeobox 1, without stop codon, in Flexi system.
BC007388 - Homo sapiens POU class 2 homeobox 1, mRNA (cDNA clone IMAGE:3830953), partial cds.
S66902 - oct-1B=POU homeodomain protein {alternatively spliced} [human, NTera 2D1, mRNA Partial, 89 nt].
MA441011 - JP 2018138019-A/12937: Polycomb-Associated Non-Coding RNAs.
LF320474 - JP 2014500723-A/127977: Polycomb-Associated Non-Coding RNAs.
LF320472 - JP 2014500723-A/127975: Polycomb-Associated Non-Coding RNAs.
LF320466 - JP 2014500723-A/127969: Polycomb-Associated Non-Coding RNAs.
MA556051 - JP 2018138019-A/127977: Polycomb-Associated Non-Coding RNAs.
MA556049 - JP 2018138019-A/127975: Polycomb-Associated Non-Coding RNAs.
MA556043 - JP 2018138019-A/127969: Polycomb-Associated Non-Coding RNAs.
LF320464 - JP 2014500723-A/127967: Polycomb-Associated Non-Coding RNAs.
LF320463 - JP 2014500723-A/127966: Polycomb-Associated Non-Coding RNAs.
JD566550 - Sequence 547574 from Patent EP1572962.
JD502510 - Sequence 483534 from Patent EP1572962.
JD229239 - Sequence 210263 from Patent EP1572962.
LF320462 - JP 2014500723-A/127965: Polycomb-Associated Non-Coding RNAs.
JD435467 - Sequence 416491 from Patent EP1572962.
JD360657 - Sequence 341681 from Patent EP1572962.
JD254773 - Sequence 235797 from Patent EP1572962.
BC037864 - Homo sapiens cDNA clone IMAGE:5272804.
JD268266 - Sequence 249290 from Patent EP1572962.
JD488397 - Sequence 469421 from Patent EP1572962.
JD489375 - Sequence 470399 from Patent EP1572962.
JD434280 - Sequence 415304 from Patent EP1572962.
JD380580 - Sequence 361604 from Patent EP1572962.
JD233666 - Sequence 214690 from Patent EP1572962.
JD310629 - Sequence 291653 from Patent EP1572962.
JD237274 - Sequence 218298 from Patent EP1572962.
JD183776 - Sequence 164800 from Patent EP1572962.
JD556830 - Sequence 537854 from Patent EP1572962.
JD245575 - Sequence 226599 from Patent EP1572962.
JD297677 - Sequence 278701 from Patent EP1572962.
JD554897 - Sequence 535921 from Patent EP1572962.
JD245493 - Sequence 226517 from Patent EP1572962.
AK124826 - Homo sapiens cDNA FLJ42836 fis, clone BRCAN2020710.
JD386295 - Sequence 367319 from Patent EP1572962.
JD160176 - Sequence 141200 from Patent EP1572962.
JD242460 - Sequence 223484 from Patent EP1572962.
JD489822 - Sequence 470846 from Patent EP1572962.
JD429829 - Sequence 410853 from Patent EP1572962.
JD049813 - Sequence 30837 from Patent EP1572962.
JD482220 - Sequence 463244 from Patent EP1572962.
JD261154 - Sequence 242178 from Patent EP1572962.
JD390436 - Sequence 371460 from Patent EP1572962.
JD310613 - Sequence 291637 from Patent EP1572962.
JD562878 - Sequence 543902 from Patent EP1572962.
JD479158 - Sequence 460182 from Patent EP1572962.
JD259138 - Sequence 240162 from Patent EP1572962.
JD457878 - Sequence 438902 from Patent EP1572962.
JD252073 - Sequence 233097 from Patent EP1572962.
JD299737 - Sequence 280761 from Patent EP1572962.
JD517059 - Sequence 498083 from Patent EP1572962.
JD528637 - Sequence 509661 from Patent EP1572962.
JD069077 - Sequence 50101 from Patent EP1572962.
JD429363 - Sequence 410387 from Patent EP1572962.
JD467725 - Sequence 448749 from Patent EP1572962.
JD116396 - Sequence 97420 from Patent EP1572962.
JD076708 - Sequence 57732 from Patent EP1572962.
JD078063 - Sequence 59087 from Patent EP1572962.
JD237738 - Sequence 218762 from Patent EP1572962.
JD237890 - Sequence 218914 from Patent EP1572962.
JD244466 - Sequence 225490 from Patent EP1572962.
MA556041 - JP 2018138019-A/127967: Polycomb-Associated Non-Coding RNAs.
MA556040 - JP 2018138019-A/127966: Polycomb-Associated Non-Coding RNAs.
MA556039 - JP 2018138019-A/127965: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P14859 (Reactome details) participates in the following event(s):

R-HSA-83791 Binding of SNAPc, Oct-1, and Staf to Type 3 Promoter
R-HSA-9009371 Binding of AP1 transcriptional activator complexes to CCND1 promoter
R-HSA-83793 Binding of TFIIIB to SNAPc:Oct-1:Staf:Type 3 Promoter Complex
R-HSA-112054 RNA Polymerase III Abortive Initiation At Type 3 Open Promoters
R-HSA-112156 RNA Polymerase III Simple Start Sequence Initiation At Type 3 Promoters
R-HSA-112152 RNA Polymerase III Promoter Opening at Type 3 Promoters
R-HSA-6807496 POU2F1 (OCT1) or POU2F2 (OCT2), SP1, and ZNF143 (STAF) bind the DSE of snRNA gene (U1, U2, U4, U4atac, U5, U11, U12)
R-HSA-83803 Recruitment of RNA Polymerase III to TFIIIB:SNAPc:Type 3 Promoter Complex
R-HSA-6810239 SNAPc binds PSE of snRNA gene (U1, U2, U4, U4atac, U5, U11, U12)
R-HSA-6810234 General transcription factors bind SNAPc:POU2F1:ZNF143:snRNA gene
R-HSA-6810233 CDK7 phosphorylates serine-5 and serine-7 of heptad repeats in C-terminal domain of RNA polymerase II at snRNA promoter
R-HSA-6810238 RNA polymerase II binds initiation factors at promoter of snRNA gene (U1, U2, U4, U4atac, U5, U11, U12)
R-HSA-6810235 RPAP2 binds RNA polymerase II phosphorylated at serine-7 residues of heptad repeats in the C-terminal domain
R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-76046 RNA Polymerase III Transcription Initiation
R-HSA-8939211 ESR-mediated signaling
R-HSA-74158 RNA Polymerase III Transcription
R-HSA-449147 Signaling by Interleukins
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-74160 Gene expression (Transcription)
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001198783, NP_001185712, OCT1, OTF1, P14859-2
UCSC ID: uc001gef.3
RefSeq Accession: NM_001198783
Protein: P14859-2, splice isoform of P14859 CCDS: CCDS55656.1, CCDS1259.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001198783.1
exon count: 16CDS single in 3' UTR: no RNA size: 14038
ORF size: 2268CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4727.00frame 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.