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

Gene ID: 5449, updated on 5-Mar-2024

Summary

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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
mouse all
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Genomic context

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See POU1F1 in Genome Data Viewer
Location:
3p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (87259404..87276584, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (87333763..87350936, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees. Hassan SS, et al. Genes (Basel), 2022 Apr 8. PMID 35456463, Free PMC Article
  2. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Musa N, et al. Clin Genet, 2021 Nov. PMID 34378789
  3. A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression. Suzuki S, et al. Eur J Endocrinol, 2021 May 21. PMID 33886498
  4. Transgenic mouse model for conditional expression of influenza hemagglutinin-tagged human SLC20A1/PIT1. Chande S, et al. PLoS One, 2019. PMID 31613887, Free PMC Article
  5. POU1F1 transcription factor promotes breast cancer metastasis via recruitment and polarization of macrophages. Seoane S, et al. J Pathol, 2019 Nov. PMID 31292963

See all (131) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
    Title: Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
  2. Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition.
    Title: Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition.
  3. Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in Salmonella-Containing Vacuole in HeLa Cells.
    Title: Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in Salmonella-Containing Vacuole in HeLa Cells.
  4. CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
    Title: CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling.
  5. Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
    Title: Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
  6. Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
    Title: Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
  7. Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
    Title: Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
  8. A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
    Title: A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
  9. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
    Title: A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
  10. Transcription Factor Pit-1 Affects Transcriptional Timing in the Dual-Promoter Human Prolactin Gene.
    Title: Transcription Factor Pit-1 Affects Transcriptional Timing in the Dual-Promoter Human Prolactin Gene.
Submit: New GeneRIF Correction See all GeneRIFs (76)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lncRNA binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in adenohypophysis development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of 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

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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)

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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.

Genomic

  1. NG_008225.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000306.4 → NP_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:124 → 198
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:217 → 271
    Homeobox; Homeobox domain

  2. NM_001122757.3 → NP_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:150 → 224
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:243 → 297
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28069.1 GenPept UniProtKB/Swiss-Prot:P28069

Gene LinkOut

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