This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis... See more...

Aliases for POU5F1B Gene

Aliases for POU5F1B Gene

  • POU Class 5 Homeobox 1B 2 3 5
  • OTF3C 2 3 4
  • Putative POU Domain, Class 5, Transcription Factor 1B 3 4
  • POU Class 5 Homeobox 1 Pseudogene 1 2 3
  • POU5FLC20 3 4
  • POU5F1P1 3 4
  • POU5FLC8 3 4
  • OCT4PG1 3 4
  • OTF3P1 3 4
  • POU Domain, Class 5, Transcription Factor 1 Pseudogene 1 3
  • POU Domain Class 5, Transcription Factor 1 Pseudogene 1 2
  • Octamer-Binding Transcription Factor 3-Like 4
  • POU Domain Transcription Factor OCT4-Pg1 3
  • Octamer Binding Protein 3_like Sequence 3
  • POU Domain Transcription Factor Oct-4 3
  • Octamer-Binding Protein 3-Like 4
  • POU 5 Domain Protein 3
  • OCT4-PG1 3
  • POU5F1P4 3
  • Oct4-Pg1 4
  • POU5F1B 5

External Ids for POU5F1B Gene

Previous HGNC Symbols for POU5F1B Gene

  • OTF3P1
  • POU5F1P1

Previous GeneCards Identifiers for POU5F1B Gene

  • GC08P128499
  • GC08P123746
  • GC08P128426
  • GC08P127414

Summaries for POU5F1B Gene

Entrez Gene Summary for POU5F1B Gene

  • This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]

GeneCards Summary for POU5F1B Gene

POU5F1B (POU Class 5 Homeobox 1B) is a Protein Coding gene. Diseases associated with POU5F1B include Prostate Cancer and Cone-Rod Dystrophy 10. Among its related pathways are Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is POU5F1.

UniProtKB/Swiss-Prot Summary for POU5F1B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU5F1B Gene

Genomics for POU5F1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POU5F1B 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
GH08J127320 Enhancer 0.2 FANTOM5 250.7 -1.1 -1123 0.3 POU5F1B piR-49501 piR-61532-324 MYC CASC21 JX003864 CASC8 HSALNG0068436 PCAT1 LRATD2
GH08J127321 Enhancer 0.2 Ensembl 250.7 +0.4 418 1.6 POU5F1B piR-49501 piR-61532-324 lnc-FAM84B-83 CASC21 JX003864 CASC8 HSALNG0068436 MYC PCAT1
GH08J127451 Enhancer 0.7 FANTOM5 Ensembl ENCODE 10.6 +133.2 133221 9.6 SPI1 MAFK POU5F1B CASC8 piR-32559-448 Hsa-Mir-95-P3-v2_3p-002 lnc-FAM84B-14 HSALNG0068436 MYC
GH08J127305 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -15.2 -15182 3.6 BCLAF1 SP1 BCL11A ZNF592 TRIM22 NR2C1 IRF4 RARA EBF1 CBFB piR-45012-510 ENSG00000271509 POU5F1B CASC21 JX003864 CASC8 HSALNG0068436 PCAT1 LRATD2
GH08J127292 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 0.3 -26.3 -26335 6.3 JUND CEBPA CEBPB MAX EP300 FOXA2 CUX1 ETV4 RARA TEAD3 MYC ENSG00000271509 piR-45012-510 POU5F1B CASC21 JX003864 CASC8 HSALNG0068436 LRATD2 PCAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU5F1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU5F1B

Top Transcription factor binding sites by QIAGEN in the POU5F1B gene promoter:
  • AML1a
  • Cdc5
  • CUTL1
  • Gfi-1
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT5B

Genomic Locations for POU5F1B Gene

Latest Assembly
chr8:127,322,183-127,420,066
(GRCh38/hg38)
Size:
97,884 bases
Orientation:
Plus strand

Previous Assembly
chr8:128,428,070-128,429,455
(GRCh37/hg19 by Entrez Gene)
Size:
1,386 bases
Orientation:
Plus strand

chr8:128,426,535-128,432,311
(GRCh37/hg19 by Ensembl)
Size:
5,777 bases
Orientation:
Plus strand

Genomic View for POU5F1B Gene

Genes around POU5F1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU5F1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU5F1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU5F1B Gene

Proteins for POU5F1B Gene

  • Protein details for POU5F1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06416-P5F1B_HUMAN
    Recommended name:
    Putative POU domain, class 5, transcription factor 1B
    Protein Accession:
    Q06416
    Secondary Accessions:
    • D5K9S4
    • D5K9S9
    • D5K9T0
    • D5K9T1
    • D5K9T3
    • D5K9U3
    • D5K9U6
    • D5K9V4
    • D5K9V6
    • D5K9W0
    • D5K9W2
    • D5K9W7
    • D5K9X2
    • D5K9X3
    • D5K9X5
    • D5K9X8
    • D5K9X9
    • E9LRB1
    • E9LRB2
    • E9LRH5
    • E9LRH6
    • E9LRH7
    • E9LRK4
    • E9LRK5
    • E9LRK7
    • E9LRK8
    • E9LRM7
    • E9LRM9
    • E9LRN2
    • E9LRN4
    • E9LRN5
    • E9LRP8
    • E9LRQ0
    • E9LRQ2
    • E9LRQ3
    • E9LRQ4
    • E9LRQ5
    • E9LRS3
    • Q2VIK6
    • Q9BZV7
    • Q9BZV9

    Protein attributes for POU5F1B Gene

    Size:
    359 amino acids
    Molecular mass:
    38588 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POU5F1B Gene

Post-translational modifications for POU5F1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU5F1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU5F1B Gene

Domains & Families for POU5F1B Gene

Gene Families for POU5F1B Gene

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

Protein Domains for POU5F1B Gene

Suggested Antigen Peptide Sequences for POU5F1B Gene

GenScript: Design optimal peptide antigens:
  • POU domain transcription factor OCT4-pg1 (D5K9S9_HUMAN)
  • POU domain transcription factor OCT4-pg1 (D5K9T0_HUMAN)
  • POU domain transcription factor OCT4-pg1 (D5K9T1_HUMAN)
  • POU domain transcription factor OCT4-pg1 (D5K9T3_HUMAN)
  • POU domain transcription factor OCT4-pg1 (D5K9U3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06416

UniProtKB/Swiss-Prot:

P5F1B_HUMAN :
  • Belongs to the POU transcription factor family. Class-5 subfamily.
Family:
  • Belongs to the POU transcription factor family. Class-5 subfamily.
genes like me logo Genes that share domains with POU5F1B: view

Function for POU5F1B Gene

Molecular function for POU5F1B Gene

UniProtKB/Swiss-Prot Function:
Shows weak transcriptional activator activity.

Phenotypes From GWAS Catalog for POU5F1B Gene

Gene Ontology (GO) - Molecular Function for POU5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 1408763
genes like me logo Genes that share ontologies with POU5F1B: view

Phenotypes for POU5F1B Gene

genes like me logo Genes that share phenotypes with POU5F1B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU5F1B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POU5F1B Gene

Localization for POU5F1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU5F1B 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 POU5F1B gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POU5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with POU5F1B: view

Pathways & Interactions for POU5F1B Gene

genes like me logo Genes that share pathways with POU5F1B: view

Pathways by source for POU5F1B Gene

Gene Ontology (GO) - Biological Process for POU5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 1408763
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with POU5F1B: view

No data available for SIGNOR curated interactions for POU5F1B Gene

Drugs & Compounds for POU5F1B Gene

No Compound Related Data Available

Transcripts for POU5F1B Gene

mRNA/cDNA for POU5F1B Gene

1 REFSEQ mRNAs :
138 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU5F1B

Alternative Splicing Database (ASD) splice patterns (SP) for POU5F1B Gene

No ASD Table

Relevant External Links for POU5F1B Gene

GeneLoc Exon Structure for
POU5F1B

Expression for POU5F1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU5F1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU5F1B

SOURCE GeneReport for Unigene cluster for POU5F1B Gene:

Hs.450254

mRNA Expression by UniProt/SwissProt for POU5F1B Gene:

Q06416-P5F1B_HUMAN
Tissue specificity: Detected at the mRNA level in several cancer tissues (breast, uterine cervix, lung, thyroid gland, esophagus, colon, urinary bladder, and glioma), but absent in normal tissues.

Evidence on tissue expression from TISSUES for POU5F1B Gene

  • Liver(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with POU5F1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , 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 POU5F1B Gene

Orthologs for POU5F1B Gene

This gene was present in the common ancestor of animals.

Orthologs for POU5F1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POU5F1B 29
  • 97.96 (n)
Cow
(Bos Taurus)
Mammalia POU5F1 30
  • 89 (a)
ManyToMany
-- 30
  • 67 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 88 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Pou5f1 30
  • 83 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 75 (a)
OneToMany
Chicken
(Gallus gallus)
Aves POUV 30
  • 39 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 55 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii pou5f3 30
  • 28 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta acj6 30
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-86 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
OneToMany
Species where no ortholog for POU5F1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 POU5F1B Gene

ENSEMBL:
Gene Tree for POU5F1B (if available)
TreeFam:
Gene Tree for POU5F1B (if available)
Alliance of Genome Resources:
Additional Orthologs for POU5F1B

Paralogs for POU5F1B Gene

(12) SIMAP similar genes for POU5F1B Gene using alignment to 1 proteins:

  • P5F1B_HUMAN
genes like me logo Genes that share paralogs with POU5F1B: view

Variants for POU5F1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU5F1B Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1061394 -- p.Leu33Arg
rs1061395 -- p.Leu69Phe
rs13273814 -- p.Lys182Thr
rs13274084 -- p.Asn214Asp
rs556361752 -- p.Pro313Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POU5F1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POU5F1B Gene

Variant ID Type Subtype PubMed ID
nsv499795 OTHER inversion 21111241
nsv7419 OTHER inversion 18451855
nsv981980 CNV duplication 23825009

Variation tolerance for POU5F1B Gene

Residual Variation Intolerance Score: 94.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.29; 97.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU5F1B Gene

Human Gene Mutation Database (HGMD)
POU5F1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU5F1B
Leiden Open Variation Database (LOVD)
POU5F1B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU5F1B Gene

Disorders for POU5F1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for POU5F1B Gene - From: LNC, COP, and GCD

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, somatic
cone-rod dystrophy 10
  • cord10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU5F1B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POU5F1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU5F1B Gene

Publications for POU5F1B Gene

  1. Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. (PMID: 1408763) Takeda J … Bell GI (Nucleic acids research 1992) 2 3 4
  2. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 40
  3. POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma. (PMID: 20017164) Kastler S … Assum G (The Prostate 2010) 3 72
  4. The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. (PMID: 18949397) Panagopoulos I … Mertens F (Oncology reports 2008) 3 4
  5. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. (PMID: 17401366) Gudmundsson J … Stefansson K (Nature genetics 2007) 3 40

Products for POU5F1B Gene

Sources for POU5F1B Gene