POU5F1 (POU class 5 homeobox 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5460
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 5 homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU5F1
Synonyms (NCBI Gene) Gene synonyms aliases
OCT3, OCT4, OCT4Borf1, OTF-3, OTF3, OTF4, Oct-3, Oct-4, Oct3/4
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(54)
miRTarBase ID miRNA Experiments Reference
MIRT004904 hsa-miR-145-5p FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR 19409607
MIRT004904 hsa-miR-145-5p FACS, Flow, GFP reporter assay, In situ hybridization, Luciferase reporter assay, qRT-PCR 19409607
MIRT004904 hsa-miR-145-5p Immunofluorescence, qRT-PCR 22486352
MIRT004904 hsa-miR-145-5p Immunofluorescence, qRT-PCR 22486352
MIRT004904 hsa-miR-145-5p Immunofluorescence, qRT-PCR 22486352
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
Transcription factor Regulation Reference
CEBPD Activation 15284209
DNMT3A Unknown 22867868
HDAC1 Unknown 22867868
MBD2 Unknown 22867868
NANOG Activation 22378194
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(50)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19409607
GO:0000976 Function Transcription cis-regulatory region binding IDA 19409607, 19736317
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164177 9221 ENSG00000204531
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q01860
Protein name POU domain, class 5, transcription factor 1 (Octamer-binding protein 3) (Oct-3) (Octamer-binding protein 4) (Oct-4) (Octamer-binding transcription factor 3) (OTF-3)
Protein function Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Cri
PDB 6T90 , 6YOV , 7U0G , 7U0I , 8G87 , 8G88 , 8G8B , 8G8E , 8G8G , 8OTS , 8SPS , 8SPU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 141 → 212 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 231 → 287 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues. {ECO:0000269|PubMed:1408763, ECO:0000269|PubM
Sequence 
MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGI
PPCPPPYEFCGGMAYCGPQVGVGLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPG
AVKLEKEKLEQNPEESQDIKALQKELEQFAKLLKQKRITLGYTQADVGLTLGVLFGKVFS
QTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAETLVQARKRKRTSIENR
VRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEA
AGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Signaling pathways regulating pluripotency of stem cells   POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Transcriptional regulation of pluripotent stem cells
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Multiple myeloma Multiple myeloma N/A N/A GWAS
Show/Hide Text Mining Associations (197)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 18338330, 20051954
Adenoameloblastoma Associate 36344906
Adenocarcinoma Associate 21305538, 23984394, 32869704
Adenocarcinoma Stimulate 22300949
Adenocarcinoma of Lung Associate 27496649, 34685622
Adenoma Pleomorphic Associate 34161412
Adrenoleukodystrophy Associate 29065337
Alzheimer Disease Associate 29753274, 31401456, 31698192
Ameloblastoma Associate 36344906, 36655039
Amyotrophic Lateral Sclerosis Associate 32006803