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

Gene ID: 5449, updated on 12-Oct-2019

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
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

Genomic context

See POU1F1 in Genome Data Viewer
Location:
3p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (87259404..87276584, 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

Genomic regions, transcripts, and products

Expression

  • 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

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

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
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)

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
    P28069
    Related
    ENSP00000263781.2, ENST00000350375.7
    Conserved Domains (2) summary
    smart00352
    Location:124198
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:217270
    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, ENST00000344265.7
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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