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    POU6F1 POU class 6 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5463, updated on 27-Nov-2024

    Summary

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    Official Symbol
    POU6F1provided by HGNC
    Official Full Name
    POU class 6 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:9224
    See related
    Ensembl:ENSG00000184271 MIM:618043; AllianceGenome:HGNC:9224
    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
    BRN5; MPOU; TCFB1
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in actin cytoskeleton and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.7), ovary (RPKM 3.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POU6F1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51186936..51218062, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51149818..51180972, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51580719..51611846, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transcription factor CP2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6370 Neighboring gene RNA, U6 small nuclear 199, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51566351-51567098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6371 Neighboring gene uncharacterized LOC124902933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51593597-51594096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:51614127-51614306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51631660-51632297 Neighboring gene Sharpr-MPRA regulatory region 9853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51633573-51634209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641233-51641734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641735-51642234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51642235-51642736 Neighboring gene DAZ associated protein 2 Neighboring gene small cell adhesion glycoprotein Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51663873-51664373 Neighboring gene bridging integrator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6376 Neighboring gene Sharpr-MPRA regulatory region 8177 Neighboring gene uncharacterized LOC105369767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4466

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel POU domain protein which binds to the T-cell receptor beta enhancer. Messier H, et al. Mol Cell Biol, 1993 Sep. PMID 8102789, Free PMC Article
    2. POU6F1 is the transcription factor that might be involved in cell proliferation of clear cell adenocarcinoma of the ovary. Yoshioka N, et al. Hum Cell, 2009 Nov. PMID 19874398
    3. Crystallization and preliminary X-ray analysis of human Brn-5 transcription factor in complex with DNA. Pereira JH, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2008 Mar 1. PMID 18323601, Free PMC Article
    4. POU6F1 promotes ferroptosis by increasing lncRNA-CASC2 transcription to regulate SOCS2/SLC7A11 signaling in gastric cancer. Wang J, et al. Cell Biol Toxicol, 2024 Jan 25. PMID 38267746, Free PMC Article
    5. Aurora kinase A-mediated phosphorylation of mPOU at a specific site drives skeletal muscle differentiation. Karthigeyan D, et al. J Biochem, 2020 Feb 1. PMID 31665313

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POU6F1 promotes ferroptosis by increasing lncRNA-CASC2 transcription to regulate SOCS2/SLC7A11 signaling in gastric cancer.
      Title: POU6F1 promotes ferroptosis by increasing lncRNA-CASC2 transcription to regulate SOCS2/SLC7A11 signaling in gastric cancer.
    2. results signify mPOU as a negative regulator of skeletal muscle differentiation and strengthen the importance of AurkA in skeletal myogenesis
      Title: Aurora kinase A-mediated phosphorylation of mPOU at a specific site drives skeletal muscle differentiation.
    3. POU6F1 siRNA dose-dependently suppressed the proliferation of clear cell adenocarcinoma cell lines.
      Title: Transcription factor POU6F1 is important for proliferation of clear cell adenocarcinoma of the ovary and is a potential new molecular target.
    4. is the transcription factor that might be involved in cell proliferation of clear cell adenocarcinoma of the ovary.
      Title: POU6F1 is the transcription factor that might be involved in cell proliferation of clear cell adenocarcinoma of the ovary.
    5. The crystal structure of human Brn-5 transcription factor in complex with corticotropin-releasing hormone gene promoter reveals an unexpected recognition mode of the protein to its cognate DNA
      Title: Structure of human Brn-5 transcription factor in complex with CRH gene promoter.
    6. Crystallization and preliminary X-ray analysis
      Title: Crystallization and preliminary X-ray analysis of human Brn-5 transcription factor in complex with DNA.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of POU class 6 homeobox 1 (POU6F1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in heart development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    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 nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    POU domain, class 6, transcription factor 1
    Names
    brain-5
    brain-specific homeobox/POU domain protein 5
    mPOU homeobox protein

    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_001330422.2 → NP_001317351.1  POU domain, class 6, transcription factor 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC139768
      Consensus CDS
      CCDS81691.1
      UniProtKB/TrEMBL
      A0A1C7CYV8, A0A1C7CYY7
      Related
      ENSP00000330190.11, ENST00000333640.12

    2. NM_001351088.2 → NP_001338017.1  POU domain, class 6, transcription factor 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 12, encodes isoform 3.
      Source sequence(s)
      AC139768

    3. NM_001368008.1 → NP_001354937.1  POU domain, class 6, transcription factor 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 4, encodes isoform 3.
      Source sequence(s)
      AC139768

    RNA

    1. NR_026893.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC139768
      Related
      ENST00000636728.1

    2. NR_147046.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    3. NR_147047.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    4. NR_147048.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    5. NR_147049.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    6. NR_147050.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    7. NR_147051.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    8. NR_147052.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    9. NR_160429.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    10. NR_160430.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC139768

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51186936..51218062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429037.1 → XP_047284993.1  POU domain, class 6, transcription factor 1 isoform X3

    2. XM_047429034.1 → XP_047284990.1  POU domain, class 6, transcription factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYV8

    3. XM_047429040.1 → XP_047284996.1  POU domain, class 6, transcription factor 1 isoform X6

    4. XM_047429041.1 → XP_047284997.1  POU domain, class 6, transcription factor 1 isoform X7

    5. XM_047429039.1 → XP_047284995.1  POU domain, class 6, transcription factor 1 isoform X5

    6. XM_047429038.1 → XP_047284994.1  POU domain, class 6, transcription factor 1 isoform X4

    7. XM_047429036.1 → XP_047284992.1  POU domain, class 6, transcription factor 1 isoform X2

    8. XM_047429033.1 → XP_047284989.1  POU domain, class 6, transcription factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYV8

    9. XM_017019514.1 → XP_016875003.1  POU domain, class 6, transcription factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYV8, A0A1C7CYY7

    10. XM_047429035.1 → XP_047284991.1  POU domain, class 6, transcription factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1C7CYV8

    11. XM_047429043.1 → XP_047284999.1  POU domain, class 6, transcription factor 1 isoform X9

      UniProtKB/Swiss-Prot
      Q14863, Q15944, Q6DK47, Q7Z7P6

    12. XM_047429042.1 → XP_047284998.1  POU domain, class 6, transcription factor 1 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51149818..51180972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372356.1 → XP_054228331.1  POU domain, class 6, transcription factor 1 isoform X3

    2. XM_054372353.1 → XP_054228328.1  POU domain, class 6, transcription factor 1 isoform X1

    3. XM_054372360.1 → XP_054228335.1  POU domain, class 6, transcription factor 1 isoform X7

    4. XM_054372359.1 → XP_054228334.1  POU domain, class 6, transcription factor 1 isoform X6

    5. XM_054372358.1 → XP_054228333.1  POU domain, class 6, transcription factor 1 isoform X5

    6. XM_054372355.1 → XP_054228330.1  POU domain, class 6, transcription factor 1 isoform X2

    7. XM_054372357.1 → XP_054228332.1  POU domain, class 6, transcription factor 1 isoform X4

    8. XM_054372352.1 → XP_054228327.1  POU domain, class 6, transcription factor 1 isoform X1

    9. XM_054372351.1 → XP_054228326.1  POU domain, class 6, transcription factor 1 isoform X1

    10. XM_054372354.1 → XP_054228329.1  POU domain, class 6, transcription factor 1 isoform X1

    11. XM_054372350.1 → XP_054228325.1  POU domain, class 6, transcription factor 1 isoform X1

    12. XM_054372362.1 → XP_054228337.1  POU domain, class 6, transcription factor 1 isoform X9

      UniProtKB/Swiss-Prot
      Q14863, Q15944, Q6DK47, Q7Z7P6

    13. XM_054372361.1 → XP_054228336.1  POU domain, class 6, transcription factor 1 isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002702.3: Suppressed sequence

      Description
      NM_002702.3: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14863.1 GenPept UniProtKB/Swiss-Prot:Q14863

    Gene LinkOut

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

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