POU5F1 (POU class 5 homeobox 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5460
Gene name POU class 5 homeobox 1
Gene symbol POU5F1
Synonyms (NCBI Gene)
OCT3OCT4OCT4Borf1OTF-3OTF3OTF4Oct-3Oct-4Oct3/4
Chromosome 6
Chromosome location 6p21.33
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
miRNA miRNA information provided by mirtarbase database.
54
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 FACSFlowGFP reporter assayIn situ hybridizationLuciferase reporter assayqRT-PCR 19409607
MIRT004904 hsa-miR-145-5p FACSFlowGFP reporter assayIn situ hybridizationLuciferase reporter assayqRT-PCR 19409607
MIRT004904 hsa-miR-145-5p ImmunofluorescenceqRT-PCR 22486352
MIRT004904 hsa-miR-145-5p ImmunofluorescenceqRT-PCR 22486352
MIRT004904 hsa-miR-145-5p ImmunofluorescenceqRT-PCR 22486352
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164177 9221 ENSG00000204531
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (21)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOGENESIS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (348)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31159871
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19126554, 22300949, 29596836
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19126554, 21159654, 24145959, 24386189, 29596836
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 23921511
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 24976283
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortex Diseases Adrenal Cortex Diseases BEFREE 30121075
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 29065337
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 29065337 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenomyeloneuropathy Adrenomyeloneuropathy BEFREE 29065337
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 31159871
★★★★★
★☆☆☆☆
Found in Text Mining only