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

Gene ID: 5449, updated on 8-May-2016
Official Symbol
POU1F1provided by HGNC
Official Full Name
POU class 1 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9210
See related
Ensembl:ENSG00000064835 HPRD:01409; 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]
Orthologs
Location:
3p11
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pituitary hormone deficiency, combined 1
MedGen: C2751608 OMIM: 613038 GeneReviews: Not available
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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
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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, OTTHUMP00000213820, ENST00000350375, OTTHUMT00000352827
    Conserved Domains (2) summary
    smart00352
    Location:124198
    POU; Found in Pit-Oct-Unc transcription factors
    cd00086
    Location:215273
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
  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, OTTHUMP00000213821, ENST00000344265, OTTHUMT00000352828
    Conserved Domains (2) summary
    smart00352
    Location:150224
    POU; Found in Pit-Oct-Unc transcription factors
    cd00086
    Location:241299
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 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)