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

    Gene ID: 5462, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Genomic context

    See POU5F1B in Genome Data Viewer
    Location:
    8q24.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (127413447..127417224)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (128540849..128544631)
    105.20220307 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    General protein information

    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)

    NEW Try the new Transcript table

    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_001159542.3NP_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:138212
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:233286
      Homeobox; Homeobox domain
    2. NM_001395745.1NP_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:138212
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:233286
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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.