Pou1f1 POU domain, class 1, transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pou1f1provided by MGI
Official Full Name: POU domain, class 1, transcription factor 1provided by MGI
Primary source: MGI:MGI:97588
See related: Ensembl:ENSMUSG00000004842 AllianceGenome:MGI:97588
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dw; Hmp1; Pit1; GHF-1; Pit-1; dwarf; Pit1-rs1
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including determination of adult lifespan; positive regulation of cellular biosynthetic process; and somatotropin secreting cell development. Located in nucleus. Is expressed in several structures, including eye; genitourinary system; pituitary gland; and trunk somite. Human ortholog(s) of this gene implicated in panhypopituitarism and pituitary gland disease. Orthologous to human POU1F1 (POU class 1 homeobox 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 16 C1.3; 16 37.25 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (65317398..65331904)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (65520512..65535018)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SGK3 promotes vascular calcification via Pit-1 in chronic kidney disease.
Title: SGK3 promotes vascular calcification via Pit-1 in chronic kidney disease.
DWORF Extends Life Span in a PLN-R14del Cardiomyopathy Mouse Model by Reducing Abnormal Sarcoplasmic Reticulum Clusters.
Title: DWORF Extends Life Span in a PLN-R14del Cardiomyopathy Mouse Model by Reducing Abnormal Sarcoplasmic Reticulum Clusters.
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Title: POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Control of the Anterior Pituitary Cell Lineage Regulator POU1F1 by the Stem Cell Determinant Musashi.
Title: Control of the Anterior Pituitary Cell Lineage Regulator POU1F1 by the Stem Cell Determinant Musashi.
Novel function of PiT1/SLC20A1 in LPS-related inflammation and wound healing.
Title: Novel function of PiT1/SLC20A1 in LPS-related inflammation and wound healing.
The increase uptake of pentavalent arsenic in diabetic mouse tissues may be associated with increased PIT1 and/or PIT2 expression.
Title: Increased PIT1 and PIT2 Expression in Streptozotocin (STZ)-induced Diabetic Mice Contributes to Uptake of iAs(V).
Pit1 deletion inhibited USP7/IRS1 dissociation upon insulin stimulation.
Title: Disruption of the Phosphate Transporter Pit1 in Hepatocytes Improves Glucose Metabolism and Insulin Signaling by Modulating the USP7/IRS1 Interaction.
may regulate growth hormone expression in somatotropes through the stimulation of POU1F1
Title: A Sex-Dependent, Tropic Role for Leptin in the Somatotrope as a Regulator of POU1F1 and POU1F1-Dependent Hormones.
We thereby analyzed multiple genomic publications related to POU1F1 and pituitary development in this study to identify genes and agents regulating POU1F1 lineage cell differentiation.
Title: Genomic analyses identify agents regulating somatotroph and lactotroph functions.
A missense POU1F1 mutation is associated with isolated growth hormone deficiency.
Title: Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Pit1 (e-PCR), detects polymorphism
- UniSTS:144183

Pou1f1 (e-PCR), detects polymorphism
- UniSTS:256691

Pou1f1 (e-PCR), detects polymorphism
- UniSTS:547292

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology 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 cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables lncRNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenohypophysis development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell fate specification	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of inositol trisphosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of inositol trisphosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within somatotropin secreting cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatotropin secreting cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IC Inferred by Curator 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 (Pit1, growth hormone factor 1); pituitary specific transcription factor 1, related sequence 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.

mRNA and Protein(s)

NM_001362468.3 → NP_001349397.2 pituitary-specific positive transcription factor 1 isoform w

Status: VALIDATED

Source sequence(s)

AC118240, CT009578

UniProtKB/TrEMBL

F1T2M3

Related

ENSMUSP00000139087.2, ENSMUST00000184525.2

Conserved Domains (2) summary

smart00352
Location:114 → 188

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:207 → 261

Homeobox; Homeobox domain
NM_008849.6 → NP_032875.1 pituitary-specific positive transcription factor 1 isoform a

See identical proteins and their annotated locations for NP_032875.1

Status: VALIDATED

Source sequence(s)

AC118240, CT009578

Consensus CDS

CCDS57033.1

UniProtKB/Swiss-Prot

Q00286

UniProtKB/TrEMBL

F8WGJ8

Related

ENSMUSP00000135113.2, ENSMUST00000176330.8

Conserved Domains (2) summary

smart00352
Location:124 → 198

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:217 → 270

Homeobox; Homeobox domain