Gene: POU5F1

Alternate names for this Gene: OCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4

Gene Summary: This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: POU class 5 homeobox 1

Type of Gene: protein-coding

Gene: PSORS1C3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs3131018 in POU5F1;PSORS1C3 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs3131018 in POU5F1;PSORS1C3 gene and AIDS, PROGRESSION TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs116805908 in POU5F1;PSORS1C3 gene and Arthritis, Psoriatic PMID 30552173 2019 Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

rs887466 in POU5F1;PSORS1C3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs3094188 in POU5F1;PSORS1C3 gene and Crohn Disease PMID 23266558 2013 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.

rs887464 in POU5F1;PSORS1C3 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs3131018 in POU5F1;PSORS1C3 gene and HIV-1, RESISTANCE TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs3131018 in POU5F1;PSORS1C3 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 21051598 2010 The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

rs887464 in POU5F1;PSORS1C3 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs3094188 in POU5F1;PSORS1C3 gene and Stevens-Johnson Syndrome PMID 21801394 2011 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

rs3094188 in POU5F1;PSORS1C3 gene and Toxic Epidermal Necrolysis PMID 21801394 2011 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

rs3130457 in POU5F1;PSORS1C3 gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.