POU5F1 - POU class 5 homeobox 1 Gene
Also Known as OCT3; OCT4; OTF3; OTF4; OTF-3; Oct-3; Oct-4; Oct3/4
Species: Homo sapiens
About POU5F1
This gene has 7 transcripts (splice variants), 1 gene allele, 319 orthologues, 17 paralogues and is associated with 50 phenotypes. Broad expression in lung (RPKM 1.3), small intestine (RPKM 1.2) and 21 other tissues.
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. [provided by RefSeq, Oct 2013]
POU5F1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001285986.2 | NP_001272915.1 | POU domain, class 5, transcription factor 1 isoform 4 |
| NM_001173531.3 | NP_001167002.1 | POU domain, class 5, transcription factor 1 isoform 2 |
| NM_203289.6 | NP_976034.4 | POU domain, class 5, transcription factor 1 isoform 2 |
| NM_001285987.1 | NP_001272916.1 | POU domain, class 5, transcription factor 1 isoform 3 |
| NM_002701.6 | NP_002692.2 | POU domain, class 5, transcription factor 1 isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18281244 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
18000303 | GOA |
| located in nucleoplasm |
IDA
IDA: Inferred from direct assay
|
20458727 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
18000303 | GOA |
| part of transcription regulator complex |
IDA
IDA: Inferred from direct assay
|
19736317 | GOA |
POU5F1 Protein Structure
Pou: Pou domain - N-terminal to homeobox domain (141 - 212)
Homeobox: Homeobox domain (231 - 287)
- 0
- 100
- 200
- 300
- 360 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
POU domain, class 5, transcription factor 1 |
|
|
POU5F1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
POU5F1 | Q01860 | FOXD3 | Homo sapiens | Q9UJU5 | 11891324 | |
|
Intra
|
POU5F1 | Q01860 | FOXD3 | Homo sapiens | Q9UJU5 | 11891324 | |
|
Intra
|
POU5F1 | Q01860 | SOX2 | Homo sapiens | P48431 | 19736317 | |
|
Cross
|
POU5F1 | Q01860 | Hmgb1 | Mus musculus | P63158 | 11099378 | |
|
Intra
|
POU5F1 | Q01860 | WWP2 | Homo sapiens | O00308 | 19274063 | |
|
Intra
|
POU5F1 | Q01860 | WWP2 | Homo sapiens | O00308 | 19274063 |
POU5F1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80440 | Oct-4 Antibody (YA837) | WB, ICC/IF | Human, Mouse |
| HY-P80770 | Oct-4 Antibody | WB, IHC-P, ICC/IF, IP, ChIP | Human, Mouse |
| HY-P84462 | Oct-4 Antibody (YA4159) | WB, ICC/IF, FC, ELISA | Human |
| HY-P84462A | Oct-4 Antibody (YA4159)(PBS only) | WB, ICC/IF, FC, ELISA | Human |
| HY-P84463 | Oct-4 Antibody (YA4160) | IHC-P, FC, ELISA | Human |
| HY-P84463A | Oct-4 Antibody (YA4160)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P85304 | Oct-3/4 Antibody (YA4996) | WB; ICC/IF |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intratubular Embryonal Carcinoma |
|
|
| Premature Menopause |
|
|
| Tyrosinemia |
|
|
| Neuroblastoma |
|
|
| Epilepsy, Idiopathic Generalized 17 |
|
|
| Spermatogenic Failure, Y-Linked, 1 |
|
|
| Sarcoma |
|
|
| Ovarian Gonadoblastoma |
|
|
| Eye Disease |
|
|
| Adhesions Of Uterus |
|
|
| Dysgerminoma Of Ovary |
|
|
| Ewing Sarcoma |
|
|
| Parkinson Disease 17 |
|
|
| Severe Combined Immunodeficiency |
|
|
| Seminoma |
|
|
| Wilms Tumor 1 |
|
|
| Hepatocellular Carcinoma |
|
|
| Endodermal Sinus Tumor |
|
|
| Testicular Disease |
|
|
| Colorectal Cancer |
|
|
| Ocular Cancer |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Nervous System Disease |
|
|
| Glioblastoma Classical Subtype |
|
|
| Medulloblastoma |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Diencephalic Astrocytoma |
|
|
| Esophageal Cancer |
|
|
| Congenital Nervous System Abnormality |
|
|
| Retinitis Pigmentosa |
|
|
| Childhood Testicular Germ Cell Tumor |
|
|
| Glycogen Storage Disease |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Germ Cell Cancer |
|
|
| Macular Degeneration, Age-Related, 7 |
|
|
| Mature Teratoma |
|
|
| Testicular Cancer |
|
|
| Gonadoblastoma |
|
|
| Turner Syndrome |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
|
| Peripheral Nervous System Disease |
|
|
| Germinoma |
|
|
| Testicular Germ Cell Cancer |
|
|
| Leukemia, Acute Myeloid |
|
|
| Ovarian Primitive Germ Cell Tumor |
|
|
| Hard Palate Cancer |
|
|
| Ovarian Embryonal Carcinoma |
|
|
| Spermatogenic Failure |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Teratoma |
|
|
| Brain Germinoma |
|
|
| Ovarian Endodermal Sinus Tumor |
|
|
| Spermatocytoma |
|
|
| Gonadal Dysgenesis |
|
|
| Pineoblastoma |
|
|
| Malignant Teratoma |
|
|
| Mixed Germ Cell Cancer |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Embryonal Carcinoma |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | POU5F1 | MGD | MGI:101893 |
| Rattus norvegicus | POU5F1 | RGD | RGD:1359491 |
| Others | POU5F1 | NCBI |