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    POU5F1 POU class 5 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5460, updated on 4-Jan-2025

    Summary

    Official Symbol
    POU5F1provided by HGNC
    Official Full Name
    POU class 5 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:9221
    See related
    Ensembl:ENSG00000204531 MIM:164177; AllianceGenome:HGNC:9221
    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
    OCT3; OCT4; OTF3; OTF4; OTF-3; Oct-3; Oct-4; Oct3/4
    Summary
    This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
    Expression
    Broad expression in lung (RPKM 1.3), small intestine (RPKM 1.2) and 21 other tissues See more
    Orthologs
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    Genomic context

    See POU5F1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31164337..31170682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31032017..31038380, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31132114..31138459, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31123471-31124086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31124820-31125320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31125321-31125821 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31127045-31127228 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31128969-31129952 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31129953-31130936 Neighboring gene transcription factor 19 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:31132319-31132900 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31135533-31136390 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31136391-31137248 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:31137249-31138106 Neighboring gene POU5F1 5' regulatory region Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31142488-31143384 Neighboring gene psoriasis susceptibility 1 candidate 3 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31145628-31146222 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31146755-31147256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31148363-31148906 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31153427-31154016 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31154017-31154604 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31158168-31158669 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31163380-31164262 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31166400-31167283 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:31167284-31168166 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31169734-31170274 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31170275-31170813 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31170972-31171692 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:31171693-31172412 Neighboring gene HLA complex group 27

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (112 hits/1208 screens)

    EBI GWAS Catalog

    Description
    A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
    EBI GWAS Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC22487

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in BMP signaling pathway PubMed 
    involved_in anatomical structure morphogenesis PubMed 
    involved_in blastocyst development  
    involved_in cardiac cell fate determination PubMed 
    involved_in cell fate commitment involved in formation of primary germ layer PubMed 
    acts_upstream_of_or_within endodermal cell fate specification PubMed 
    involved_in endodermal-mesodermal cell signaling PubMed 
    involved_in heart induction PubMed 
    involved_in negative regulation of miRNA transcription PubMed 
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of asymmetric cell division  
    involved_in regulation of gene expression PubMed 
    involved_in regulation of transcription by RNA polymerase II  
    involved_in regulation of transcription by RNA polymerase II  
    involved_in response to wounding PubMed 
    involved_in somatic stem cell population maintenance PubMed 
    involved_in somatic stem cell population maintenance PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in mitochondrion  
    located_in nucleoplasm PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in nucleus PubMed 
    part_of transcription regulator complex PubMed 

    General protein information

    Preferred Names
    POU domain, class 5, transcription factor 1
    Names
    POU domain transcription factor OCT4
    POU-type homeodomain-containing DNA-binding protein
    octamer-binding protein 3
    octamer-binding protein 4
    octamer-binding transcription factor 3

    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_001173531.3 ā†’ NP_001167002.1  POU domain, class 5, transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001167002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame non-AUG (CUG) start codon, compared to variant 1. The resulting isoform (2, also known as OCT4B-190) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2). This variant may encode an additional isoform through the use of an alternative downstream AUG start codon. Use of alternate start codons and the non-AUG start codon is described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515, DQ486516
      Consensus CDS
      CCDS47398.2
      UniProtKB/TrEMBL
      M1S623, U3KQH6
      Related
      ENSP00000475880.2, ENST00000606567.6
      Conserved Domains (2) summary
      pfam00046
      Location:63 ā†’ 116
      Homeobox; Homeobox domain
      cl22952
      Location:1 ā†’ 42
      Pou; Pou domain - N-terminal to homeobox domain
    2. NM_001285986.2 ā†’ NP_001272915.1  POU domain, class 5, transcription factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001272915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as OCT4B1) contains multiple differences in the 5' UTR and the 5' coding region, compared to variant 1, and initiates translation at a downstream in-frame AUG start codon. The resulting isoform (4, also known as OCT4B-164) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI811039, DQ486514, DQ486515
      Consensus CDS
      CCDS75420.1
      UniProtKB/TrEMBL
      F2Z381
      Related
      ENSP00000475512.1, ENST00000513407.1
      Conserved Domains (2) summary
      pfam00046
      Location:37 ā†’ 91
      Homeobox; Homeobox domain
      cl22952
      Location:1 ā†’ 16
      Pou; Pou domain - N-terminal to homeobox domain
    3. NM_001285987.1 ā†’ NP_001272916.1  POU domain, class 5, transcription factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001272916.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as OCT4B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate AUG start codon, compared to variant 1. The resulting isoform (3, also known as OCT4B-265) is shorter and has a distinct N-terminus, compared to isoform 1. This variant represents an allele of variant 2 that contains an AUG start codon that is polymorphic in human populations (see rs3130932). This variant may encode additional isoforms through the use of alternative downstream AUG and non-AUG start codons, as described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515, Z11899
      UniProtKB/Swiss-Prot
      Q01860
      Conserved Domains (2) summary
      smart00352
      Location:43 ā†’ 117
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:138 ā†’ 191
      Homeobox; Homeobox domain
    4. NM_002701.6 ā†’ NP_002692.2  POU domain, class 5, transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_002692.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as OCT4A) represents the shortest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI811039, BC117435, CD247724, DQ486517
      Consensus CDS
      CCDS34391.1
      UniProtKB/Swiss-Prot
      A6NCS1, A6NLL8, D2IYK4, P31359, Q01860, Q15167, Q15168, Q16422, Q5STF3, Q5STF4
      UniProtKB/TrEMBL
      D2IYK3, D5K9Q6, D5K9Q7, D5K9Q9, D5K9R2, D5K9R3, D5K9R5, D5K9R7, D5K9R9, D5K9S1, E9LR73, E9LR75
      Related
      ENSP00000259915.7, ENST00000259915.13
      Conserved Domains (2) summary
      smart00352
      Location:138 ā†’ 212
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:233 ā†’ 287
      Homeobox; Homeobox domain
    5. NM_203289.6 ā†’ NP_976034.4  POU domain, class 5, transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_976034.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as OCT4B) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame non-AUG (CUG) start codon, compared to variant 1. The resulting isoform (2, also known as OCT4B-190) is shorter at the N-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2). This variant may encode additional isoforms through the use of an alternative downstream AUG start codon, as well as an alternative upstream AUG start codon, which is polymorphic in human populations (AGG allele represented in this RefSeq; see rs3130932). Use of alternate start codons and the non-AUG start codon is described in PMID:19489092.
      Source sequence(s)
      AI811039, DQ486514, DQ486515
      Consensus CDS
      CCDS47398.2
      UniProtKB/TrEMBL
      M1S623, U3KQH6
      Conserved Domains (2) summary
      pfam00046
      Location:63 ā†’ 116
      Homeobox; Homeobox domain
      cl22952
      Location:1 ā†’ 42
      Pou; Pou domain - N-terminal to 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31164337..31170682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2646761..2653124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2423653..2430016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2474838..2481202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2508452..2514816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2422370..2428732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2467753..2474114 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31032017..31038380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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