Gene Gene information from NCBI Gene database.
Entrez ID 5453
Gene name POU class 3 homeobox 1
Gene symbol POU3F1
Synonyms (NCBI Gene)
OCT6OTF6SCIP
Chromosome 1
Chromosome location 1p34.3
miRNA miRNA information provided by mirtarbase database.
300
miRTarBase ID miRNA Experiments Reference
MIRT613920 hsa-miR-1247-3p HITS-CLIP 23824327
MIRT488113 hsa-miR-4532 HITS-CLIP 23824327
MIRT613919 hsa-miR-3183 HITS-CLIP 23824327
MIRT613918 hsa-miR-4723-3p HITS-CLIP 23824327
MIRT613917 hsa-miR-6769b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602479 9214 ENSG00000185668
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03052
Protein name POU domain, class 3, transcription factor 1 (Octamer-binding protein 6) (Oct-6) (Octamer-binding transcription factor 6) (OTF-6) (POU domain transcription factor SCIP)
Protein function Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') (By similarity). Acts as a transcriptional activator when binding cooperatively with SOX4, SOX11, or SOX12 to gene promoters (By similarity). Acts as a transcriptional repress
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 250 321 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 340 396 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonal stem cells and in the developing brain.
Sequence
MATTAQYLPRGPGGGAGGTGPLMHPDAAAAAAAAAAAERLHAGAAYREVQKLMHHEWLGA
GAGHPVGLAHPQWLPTGGGGGGDWAGGPHLEHGKAGGGGTGRADDGGGGGGFHARLVHQG
AAHAGAAWAQGSTAHHLGPAMSPSPGASGGHQPQPLGLYAQAAYPGGGGGGLAGMLAAGG
GGAGPGLHHALHEDGHEAQLEPSPPPHLGAHGHAHGHAHAGGLHAAAAHLHPGAGGGGSS
VGEHSDEDAPSSDDLEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEALQ
LSFKNMCKLKPLLNKWLEETD
SSSGSPTNLDKIAAQGRKRKKRTSIEVGVKGALESHFLK
CPKPSAHEITGLADSLQLEKEVVRVWFCNRRQKEKR
MTPAAGAGHPPMDDVYAPGELGPG
GGGASPPSAPPPPPPAALHHHHHHTLPGSVQ
Sequence length 451
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma BEFREE 8875464
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 15367334 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 16246257
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 25772757
★☆☆☆☆
Found in Text Mining only
Childhood Oligodendroglioma Oligodendroglioma BEFREE 8875464
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 28642028
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 12384147
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 21448695
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 16246257
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 25772757
★☆☆☆☆
Found in Text Mining only