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    POU1F1 POU class 1 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5449, updated on 28-Oct-2024

    Summary

    Official Symbol
    POU1F1provided by HGNC
    Official Full Name
    POU class 1 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:9210
    See related
    Ensembl:ENSG00000064835 MIM:173110; AllianceGenome:HGNC:9210
    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
    PIT1; CPHD1; GHF-1; Pit-1; POU1F1a
    Summary
    This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POU1F1 in Genome Data Viewer
    Location:
    3p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (87259404..87276584, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (87333763..87350936, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (87308554..87325734, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20114 Neighboring gene microRNA 4795 Neighboring gene charged multivesicular body protein 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:87394799-87395300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:87395301-87395800 Neighboring gene keratin 8 pseudogene 25 Neighboring gene MPRA-validated peak4742 silencer Neighboring gene apolipoprotein O pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pituitary hormone deficiency, combined, 1
    MedGen: C2751608 OMIM: 613038 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of POU class 1 homeobox 1 (POU1F1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pituitary-specific positive transcription factor 1
    Names
    POU domain, class 1, transcription factor 1
    growth hormone factor 1
    pituitary transcript factor 1

    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.

    Genomic

    1. NG_008225.2 RefSeqGene

      Range
      5004..22184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000306.4NP_000297.1  pituitary-specific positive transcription factor 1 isoform alpha

      See identical proteins and their annotated locations for NP_000297.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha) uses an alternate in-frame splice site in the 5' coding region, compared to variant beta, resulting in a shorter protein (isoform alpha).
      Source sequence(s)
      AC130885, D10216, KF457648
      Consensus CDS
      CCDS2919.1
      UniProtKB/Swiss-Prot
      O75757, P28069, Q15132, Q15133, Q9UD34, Q9UEL3
      Related
      ENSP00000263781.2, ENST00000350375.7
      Conserved Domains (2) summary
      smart00352
      Location:124198
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:217271
      Homeobox; Homeobox domain
    2. NM_001122757.3NP_001116229.1  pituitary-specific positive transcription factor 1 isoform beta

      See identical proteins and their annotated locations for NP_001116229.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta), also known as GHF-2 or PIT-2, represents the longer transcript and encodes the longer isoform (beta).
      Source sequence(s)
      AC130885, KF457648
      Consensus CDS
      CCDS46873.1
      UniProtKB/Swiss-Prot
      P28069
      Related
      ENSP00000342931.3, ENST00000344265.8
      Conserved Domains (2) summary
      smart00352
      Location:150224
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:243297
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      87259404..87276584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      87333763..87350936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)