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    POU3F3 POU class 3 homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 5455, updated on 28-Oct-2024

    Summary

    Official Symbol
    POU3F3provided by HGNC
    Official Full Name
    POU class 3 homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:9216
    See related
    Ensembl:ENSG00000198914 MIM:602480; AllianceGenome:HGNC:9216
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRN1; OTF8; oct-8; SNIBFIS; brain-1
    Summary
    This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See POU3F3 in Genome Data Viewer
    Location:
    2q12.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (104854115..104858574)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (105315296..105319755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105470573..105475032)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high mobility group box 3 pseudogene 11 Neighboring gene POU3F3 adjacent non-coding transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:105460844-105461368 Neighboring gene VISTA enhancer hs1553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11835 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:105470177-105470766 Neighboring gene uncharacterized LOC124908045 Neighboring gene Sharpr-MPRA regulatory region 193 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:105488734-105489459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11836 Neighboring gene long intergenic non-protein coding RNA 1159 Neighboring gene VISTA enhancer hs990 Neighboring gene MRPS9 antisense RNA 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:105585853-105587052 Neighboring gene Sharpr-MPRA regulatory region 1600 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:105621477-105622097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16311 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:105654567-105655509 Neighboring gene mitochondrial ribosomal protein S9

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Snijders blok-fisher syndrome
    MedGen: C5231424 OMIM: 618604 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cerebral cortex radially oriented cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain ventricular zone progenitor cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric DCT cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric ascending thin limb development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric loop of Henle development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric macula densa development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephric thick ascending limb development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in urea transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    POU domain, class 3, transcription factor 3
    Names
    brain-specific homeobox/POU domain protein 1
    octamer-binding protein 8
    octamer-binding transcription factor 8

    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_001433704.1NP_001420633.1  POU domain, class 3, transcription factor 3

      Status: REVIEWED

      Source sequence(s)
      AC018730
    2. NM_006236.3NP_006227.1  POU domain, class 3, transcription factor 3

      See identical proteins and their annotated locations for NP_006227.1

      Status: REVIEWED

      Source sequence(s)
      AC018730, CX873380, CX873394
      Consensus CDS
      CCDS33265.1
      UniProtKB/Swiss-Prot
      P20264, P78379, Q4ZG25
      Related
      ENSP00000355001.2, ENST00000361360.4
      Conserved Domains (2) summary
      smart00352
      Location:314388
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:409463
      Homeobox; Homeobox domain

    RNA

    1. NR_197431.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018730
    2. NR_197432.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018730
    3. NR_197433.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018730
    4. NR_197434.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018730

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      104854115..104858574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      105315296..105319755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)