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

    Gene ID: 5449, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000158992
    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
    Location:
    3p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (87259633..87276587, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (87308783..87325737, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microRNA 4795 Neighboring gene charged multivesicular body protein 2B Neighboring gene keratin 8 pseudogene 25 Neighboring gene apolipoprotein O pseudogene 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    pituitary-specific positive transcription factor 1
    Names
    POU domain, class 1, transcription factor 1
    growth hormone factor 1

    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
      5001..21955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000306.3NP_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)
      D10216, KF457648
      Consensus CDS
      CCDS2919.1
      UniProtKB/Swiss-Prot
      P28069
      Related
      ENSP00000263781.2, OTTHUMP00000213820, ENST00000350375.6, OTTHUMT00000352827
      Conserved Domains (2) summary
      smart00352
      Location:124198
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:217270
      Homeobox; Homeobox domain
    2. NM_001122757.2NP_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, OTTHUMP00000213821, ENST00000344265.7, OTTHUMT00000352828
      Conserved Domains (2) summary
      smart00352
      Location:150224
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:243296
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      87259633..87276587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      87261327..87278276 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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