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Aliases for POU3F1 Gene

Subcategory (RNA class) for POU3F1 Gene

lncRNA

Aliases for POU3F1 Gene

  • POU Class 3 Homeobox 1 2 3 5
  • Octamer-Binding Transcription Factor 6 3 4
  • POU Domain Transcription Factor SCIP 3 4
  • Octamer-Binding Protein 6 3 4
  • OTF-6 3 4
  • OTF6 3 4
  • OCT6 3 4
  • POU Domain, Class 3, Transcription Factor 1 3
  • POU Domain Class 3, Transcription Factor 1 2
  • Oct-6 4
  • SCIP 3

External Ids for POU3F1 Gene

ORGUL Members for POU3F1 Gene

Previous HGNC Symbols for POU3F1 Gene

  • OTF6

Previous GeneCards Identifiers for POU3F1 Gene

  • GC01M038434
  • GC01M037517
  • GC01M037973
  • GC01M037923
  • GC01M038179
  • GC01M038282
  • GC01M038509
  • GC01M036628

Summaries for POU3F1 Gene

GeneCards Summary for POU3F1 Gene

POU3F1 (POU Class 3 Homeobox 1) is a Protein Coding gene, and is affiliated with the lncRNA class. Diseases associated with POU3F1 include Neurogenic Bowel. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is POU3F3.

UniProtKB/Swiss-Prot for POU3F1 Gene

  • Transcription factor that binds to the octamer motif (5-ATTTGCAT-3). Thought to be involved in early embryogenesis and neurogenesis.

Gene Wiki entry for POU3F1 Gene

fRNAdb sequence ontologies for POU3F1 Gene

  • nc_conserved_region: Non-coding region of sequence similarity by descent from a common ancestor.

View fRNAdb secondary structures for POU3F1

Additional gene information for POU3F1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for POU3F1 Gene

Genomics for POU3F1 Gene

GeneHancer (GH) Regulatory Elements for POU3F1 Gene

Promoters and enhancers for POU3F1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J038046 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 -0.2 -208 1.2 PKNOX1 SIN3A ZNF2 YY1 GLIS2 KLF7 KLF13 SP3 NFYC REST ENSG00000224592 LOC105378653 POU3F1
GH01J038047 Enhancer 0.5 ENCODE 650.7 -1.1 -1140 0.2 AHR SIN3A MIER2 REST ENSG00000224592 LOC105378653 POU3F1 ENSG00000223589
GH01J038587 Enhancer 0.9 Ensembl ENCODE 9.7 -540.4 -540391 0.4 CTCF RB1 BACH1 RAD21 ZNF335 CC2D1A CTBP1 MTA3 ARID2 SMC3 ENSG00000224592 POU3F1 MYCBP GJA9 GC01P038607 LOC105378658
GH01J038152 Enhancer 0.6 ENCODE 10.6 -106.1 -106110 0.2 CTCF SRF PKNOX1 ZNF687 MEF2B MNT RAD21 RCOR1 IKZF2 MGA POU3F1 ENSG00000224592 LOC105378654 LINC01343
GH01J038825 Enhancer 0.6 VISTA 9.8 -779.5 -779505 0.9 INSM2 TSHZ1 ZEB2 ZNF2 ATF2 OSR2 PRDM6 POLR2A ZNF629 SCRT2 MYCBP GJA9 ENSG00000224592 POU3F1 ENSG00000284632 GC01M038840 PIR38410
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU3F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU3F1 gene promoter:
  • HFH-1
  • Egr-4
  • GATA-1
  • NF-1
  • NF-1/L
  • GATA-3
  • Ik-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for POU3F1 Gene

Genomic Locations for POU3F1 Gene
chr1:38,043,851-38,046,794
(GRCh38/hg38)
Size:
2,944 bases
Orientation:
Minus strand
chr1:38,509,523-38,512,450
(GRCh37/hg19)
Size:
2,928 bases
Orientation:
Minus strand

Genomic View for POU3F1 Gene

Genes around POU3F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU3F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU3F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU3F1 Gene

ORGUL Member Location for POU3F1 Gene

ORGUL Member Location for POU3F1 gene

Proteins for POU3F1 Gene

  • Protein details for POU3F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03052-PO3F1_HUMAN
    Recommended name:
    POU domain, class 3, transcription factor 1
    Protein Accession:
    Q03052
    Secondary Accessions:
    • Q5TAG2

    Protein attributes for POU3F1 Gene

    Size:
    451 amino acids
    Molecular mass:
    45496 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POU3F1 Gene

Post-translational modifications for POU3F1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU3F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU3F1 Gene

Domains & Families for POU3F1 Gene

Gene Families for POU3F1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU3F1 Gene

Suggested Antigen Peptide Sequences for POU3F1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03052

UniProtKB/Swiss-Prot:

PO3F1_HUMAN :
  • Belongs to the POU transcription factor family. Class-3 subfamily.
Family:
  • Belongs to the POU transcription factor family. Class-3 subfamily.
genes like me logo Genes that share domains with POU3F1: view

Function for POU3F1 Gene

Molecular function for POU3F1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds to the octamer motif (5-ATTTGCAT-3). Thought to be involved in early embryogenesis and neurogenesis.
GENATLAS Biochemistry:
POU domain,class 3,transcription factor 1

Phenotypes From GWAS Catalog for POU3F1 Gene

Gene Ontology (GO) - Molecular Function for POU3F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 8451175
GO:0043565 sequence-specific DNA binding IDA 9242494
genes like me logo Genes that share ontologies with POU3F1: view
genes like me logo Genes that share phenotypes with POU3F1: view

Animal Model Products

Transcription Factor Targets for POU3F1 Gene

Selected GeneGlobe predicted Target genes for POU3F1
Targeted motifs for POU3F1 Gene
HOMER Transcription Factor Regulatory Elements motif POU3F1
  • Consensus sequence: WATGCAAATGAG Submotif: canonical Cell Type: NPC GEO ID: GSE35496

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Animal Models for POU3F1 Gene

Localization for POU3F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU3F1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU3F1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POU3F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with POU3F1: view

Pathways & Interactions for POU3F1 Gene

SuperPathways for POU3F1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POU3F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with POU3F1: view

No data available for Pathways by source and SIGNOR curated interactions for POU3F1 Gene

Drugs & Compounds for POU3F1 Gene

No Compound Related Data Available

Transcripts for POU3F1 Gene

fRNAdb Secondary structures for POU3F1 Gene

  • FR217284

mRNA/cDNA for POU3F1 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU3F1 Gene

POU class 3 homeobox 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU3F1 Gene

No ASD Table

Relevant External Links for POU3F1 Gene

GeneLoc Exon Structure for
POU3F1
ECgene alternative splicing isoforms for
POU3F1

Expression for POU3F1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU3F1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU3F1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x9.8), Skin - Sun Exposed (Lower leg) (x9.7), and Nerve - Tibial (x8.2).

NURSA nuclear receptor signaling pathways regulating expression of POU3F1 Gene:

POU3F1

SOURCE GeneReport for Unigene cluster for POU3F1 Gene:

Hs.1837

mRNA Expression by UniProt/SwissProt for POU3F1 Gene:

Q03052-PO3F1_HUMAN
Tissue specificity: Expressed in embryonal stem cells and in the developing brain.

Evidence on tissue expression from TISSUES for POU3F1 Gene

  • Nervous system(2.5)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with POU3F1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for POU3F1 Gene

Orthologs for POU3F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU3F1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Pou3f1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POU3F1 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POU3F1 34 33
  • 94.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POU3F1 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou3f1 33
  • 93.57 (n)
chimpanzee
(Pan troglodytes)
Mammalia POU3F1 34
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pou1-A 33
zebrafish
(Danio rerio)
Actinopterygii pou3f1 34
  • 69 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta nub 35
  • 60 (a)
pdm2 35
  • 58 (a)
vvl 34 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-6 35
  • 70 (a)
Species where no ortholog for POU3F1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for POU3F1 Gene

ENSEMBL:
Gene Tree for POU3F1 (if available)
TreeFam:
Gene Tree for POU3F1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU3F1: view image

Paralogs for POU3F1 Gene

(17) SIMAP similar genes for POU3F1 Gene using alignment to 1 proteins:

  • PO3F1_HUMAN
genes like me logo Genes that share paralogs with POU3F1: view

Variants for POU3F1 Gene

Sequence variations from dbSNP and Humsavar for POU3F1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000716740 -- 38,043,738(-) T/C downstream_transcript_variant
rs1000811573 -- 38,043,484(-) T/G downstream_transcript_variant
rs1001456540 -- 38,046,914(-) C/T upstream_transcript_variant
rs1001537856 -- 38,047,511(-) C/T upstream_transcript_variant
rs1001807722 -- 38,043,369(-) T/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for POU3F1 Gene

Variant ID Type Subtype PubMed ID
nsv1076389 CNV deletion 25765185
nsv522 CNV insertion 18451855

Variation tolerance for POU3F1 Gene

Gene Damage Index Score: 0.86; 17.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU3F1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU3F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F1 Gene

Disorders for POU3F1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for POU3F1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurogenic bowel
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU3F1

genes like me logo Genes that share disorders with POU3F1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU3F1 Gene

Publications for POU3F1 Gene

  1. Oct-6: a regulator of keratinocyte gene expression in stratified squamous epithelia. (PMID: 7909356) Faus I … Fuchs E (Molecular and cellular biology 1994) 3 4 22 58
  2. The human Oct-6 POU transcription factor lacks the first 50 amino acids of its murine counterpart. (PMID: 8451175) Tobler A … Fontana A (Nucleic acids research 1993) 2 3 4 58
  3. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 44 58
  4. Matrix metalloproteinase-19 expression in keratinocytes is repressed by transcription factors Tst-1 and Skn-1a: implications for keratinocyte differentiation. (PMID: 17195013) Beck IM … Sedlacek R (The Journal of investigative dermatology 2007) 3 22 58
  5. Oct6, a transcription factor controlling myelination, is a marker for active nerve regeneration in peripheral neuropathies. (PMID: 12557005) Kawasaki T … Shibasaki H (Acta neuropathologica 2003) 3 22 58

Products for POU3F1 Gene

Sources for POU3F1 Gene

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