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    POU5F1B POU class 5 homeobox 1B [ Homo sapiens (human) ]

    Gene ID: 5462, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POU5F1Bprovided by HGNC
    Official Full Name
    POU class 5 homeobox 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:9223
    See related
    Ensembl:ENSG00000212993 MIM:615739; AllianceGenome:HGNC:9223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OTF3C; OTF3P1; OCT4PG1; OCT4-PG1; POU5F1P1; POU5F1P4; POU5FLC8; POU5FLC20
    Summary
    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]
    Annotation information
    Note: This gene is named as a pseudogene but may be a protein coding gene as a transcript has been shown to encode a protein which can function as a transcription factor (PMID: 18949397). [03 Mar 2009]
    Orthologs
    all
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    Genomic context

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    See POU5F1B in Genome Data Viewer
    Location:
    8q24.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (127413447..127417224)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (128540849..128544631)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (128425692..128429469)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:128264283-128264878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27938 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:128295539-128296172 Neighboring gene cancer susceptibility 21 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:128304713-128305280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27940 Neighboring gene cancer susceptibility 8 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:128352096-128353295 Neighboring gene NANOG hESC enhancer GRCh37_chr8:128383298-128383801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27941 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:128444461-128445375 Neighboring gene colon cancer associated transcript 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19528 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:128620950-128621545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27946 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:128658093-128658594 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:128658595-128659094 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:128672691-128673890 Neighboring gene uncharacterized LOC105375754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:128681305-128681805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:128717643-128718143 Neighboring gene NANOG hESC enhancer GRCh37_chr8:128744882-128745383 Neighboring gene origin of replication upstream of MYC Neighboring gene cancer susceptibility 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Recurrent Superenhancer of the Oncogene POU5F1B in Colorectal Cancers. Tao HC, et al. Biomed Res Int, 2021. PMID 34934770, Free PMC Article
    2. POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma. Kastler S, et al. Prostate, 2010 May 1. PMID 20017164
    3. The OCT4 pseudogene POU5F1B is amplified and promotes an aggressive phenotype in gastric cancer. Hayashi H, et al. Oncogene, 2015 Jan 8. PMID 24362523
    4. Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis. Simó-Riudalbas L, et al. Nat Commun, 2022 Aug 20. PMID 35987910, Free PMC Article
    5. The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1. Panagopoulos I, et al. Oncol Rep, 2008 Nov. PMID 18949397

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis.
      Title: Transposon-activated POU5F1B promotes colorectal cancer growth and metastasis.
    2. Recurrent Superenhancer of the Oncogene POU5F1B in Colorectal Cancers.
      Title: Recurrent Superenhancer of the Oncogene POU5F1B in Colorectal Cancers.
    3. POU5F1B was underexpressed in AML compared with controls (P<0.001). The receiver operating characteristic (ROC) curve revealed that the POU5F1B transcript level was able to differentiate AML patients from healthy individuals (AUC=0.682). In non-APL AML patients.
      Title: Low Expression of Pseudogene POU5F1B Affects Diagnosis and Prognosis in Acute Myeloid Leukemia (AML).
    4. Radiotherapy contributed to the decline in the expression level of POU5F1B in plasma, which was upregulated in ECA109, ECA9706, KYSE410, and KYSE510, but not in HEEPIC. The knockdown of POU5F1B increased the radiosensitivity of esophageal cancer cell lines.
      Title: Knockdown of Long Noncoding RNA POU5F1B Promotes Radiosensitivity in Esophageal Carcinoma.
    5. POU5F1B was upregulated in cervical cancer and down-regulation inhibited cell proliferation and migration and induced apoptosis in cervical cancer cell lines by modulating OCT4.
      Title: The Octamer-Binding Transcription Factor 4 (OCT4) Pseudogene, POU Domain Class 5 Transcription Factor 1B (POU5F1B), is Upregulated in Cervical Cancer and Down-Regulation Inhibits Cell Proliferation and Migration and Induces Apoptosis in Cervical Cancer Cell Lines.
    6. Study shows that irrespective of tumor type or clinicopathological status, breast cancer cells expressed high levels of Oct3/4 at mRNA and protein levels. Further sequencing analysis show that breast tumors and MCF-7 cell line predominantly expressed transcripts of POU5F1B, an Oct4-like gene from chromosome 8 which possess 94% similitude with oct-4.
      Title: Differential expression of Oct3/4 in human breast cancer and normal tissues.
    7. POU5F1B promotes hepatocellular carcinoma cell proliferation by activating AKT protein.
      Title: POU5F1B promotes hepatocellular carcinoma proliferation by activating AKT.
    8. We identified eight specific CpG sites at 8q24, including six correlated sites in the POU5F1B gene, as well as two CpG sites in intergenic regions, whose DNA methylation levels were associated with prostate cancer risk.
      Title: Prospective study of DNA methylation at chromosome 8q24 in peripheral blood and prostate cancer risk.
    9. The POU5F1B pseudogene is amplified and expressed at a high level in, as well as confers an aggressive phenotype on, GC, and that POU5F1B amplification is associated with a poor prognosis in GC patients.
      Title: The OCT4 pseudogene POU5F1B is amplified and promotes an aggressive phenotype in gastric cancer.
    10. POU5F1P1 rs10505477 is correlated with survival of gastric cancer patients who receving cisplatin-based chemotherapy after gastrectomy.
      Title: Clinical significance of POU5F1P1 rs10505477 polymorphism in Chinese gastric cancer patients receving cisplatin-based chemotherapy after surgical resection.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
    EBI GWAS Catalog
    Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
    EBI GWAS Catalog
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    putative POU domain, class 5, transcription factor 1B
    Names
    POU 5 domain protein
    POU class 5 homeobox 1 pseudogene 1
    POU domain transcription factor OCT4-pg1
    POU domain transcription factor Oct-4
    POU domain, class 5, transcription factor 1 pseudogene 1
    octamer binding protein 3_like sequence

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159542.3 → NP_001153014.1  putative POU domain, class 5, transcription factor 1B

      See identical proteins and their annotated locations for NP_001153014.1

      Status: VALIDATED

      Source sequence(s)
      AC016883
      Consensus CDS
      CCDS55274.1
      UniProtKB/Swiss-Prot
      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, Q06416, Q2VIK6, Q9BZV7, Q9BZV9
      UniProtKB/TrEMBL
      D5K9Q7
      Related
      ENSP00000512769.1, ENST00000696633.1
      Conserved Domains (2) summary
      smart00352
      Location:138 → 212
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:233 → 286
      Homeobox; Homeobox domain

    2. NM_001395745.1 → NP_001382674.1  putative POU domain, class 5, transcription factor 1B

      Status: VALIDATED

      Source sequence(s)
      AC016883
      Consensus CDS
      CCDS55274.1
      UniProtKB/Swiss-Prot
      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, Q06416, Q2VIK6, Q9BZV7, Q9BZV9
      UniProtKB/TrEMBL
      D5K9Q7
      Related
      ENSP00000495779.1, ENST00000645438.1
      Conserved Domains (2) summary
      smart00352
      Location:138 → 212
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:233 → 286
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      127413447..127417224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      128540849..128544631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002304.2: Suppressed sequence

      Description
      NR_002304.2: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06416.2 GenPept UniProtKB/Swiss-Prot:Q06416

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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