POU1F1 POU class 1 homeobox 1 [Homo sapiens] - Gene

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Summary

Official Symbol: POU1F1provided by HGNC
Official Full Name: POU class 1 homeobox 1provided by HGNC
Primary source: 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]

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Genomic context

Location :: 3p11

Sequence :: Chromosome: 3; NC_000003.11 (87308783..87325737, complement)

See POU1F1 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

HSII confers robust POU1F1-dependent activation of hGH-N in this system.
Title: POU1F1-mediated activation of hGH-N by deoxyribonuclease I hypersensitive site II of the human growth hormone locus control region.
study, which identifies a novel loss-of-function mutation in POU1F1, describes the phenotype of a rare condition in a patient followed from the first weeks of life to adulthood
Title: A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150.
Title: CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.
Pit-1 overexpression or knockdown in human breast cancer cell lines induced profound phenotypic changes in the expression of proteins involved in cell proliferation, apoptosis, and invasion.
Title: Deregulation of the Pit-1 transcription factor in human breast cancer cells promotes tumor growth and metastasis.
These results support the inference that W194XProp1 is unable to increase POU1F1 gene expression by the defect of transactivating domain and that S156insTProp1 is unable to increase due to the loss of DNA-binding activity.
Title: W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene.
These findings are consistent with a role for Pit-1 as an initiating factor in human growth hormone (hGH) locus activation during somatotrope ontogeny, acting through binding sites at the locus control region.
Title: Expression of Pit-1 in nonsomatotrope cell lines induces human growth hormone locus control region histone modification and hGH-N transcription.
Novel association of two rare conditions Pit-1 mutation and lipoedema in a family that has not been described before.
Title: Pit-1 mutation and lipoedema in a family.
Data are consistent with recruitment and an early role for Pit-1 in remodeling of the growth hormone locus control region at the constitutively open hypersensitive site III through protein-protein interaction.
Title: Appearance of the pituitary factor Pit-1 increases chromatin remodeling at hypersensitive site III in the human GH locus.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
Pit-1 regulates mammary PRL transcription by binding to the proximal PRL promoter. Pit-1 raises cyclin D1 expression before increasing PRL levels. There was a significant correlation between Pit-1 & PRL expression in 94 invasive ductal breast carcinomas.
Title: The Pit-1/Pou1f1 transcription factor regulates and correlates with prolactin expression in human breast cell lines and tumors.

Submit: New GeneRIF Correction See all (45)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Pituitary hormone deficiency, combined

MIM: 262600

Pituitary hormone deficiency, combined, 1

MIM: 613038

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Products	Interactant	Other Gene	Source	Pubs	Description
P28069	Q92793	CREBBP	HPRD	PubMed
P28069	P14921	ETS1	HPRD	PubMed
P28069	P23769	GATA2	HPRD	PubMed
P28069	P05412	JUN	HPRD	PubMed
P28069	O75469	NR1I2	HPRD	PubMed
P28069	Q14994	NR1I3	HPRD	PubMed
P28069	P04150	NR3C1	HPRD	PubMed
P28069	P78337	PITX1	HPRD	PubMed
BioGRID:111445	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111445	BioGRID:108894	GATA2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111445	BioGRID:109928	JUN	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:111465	MED1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111445	BioGRID:114973	NCOR1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111445	BioGRID:114380	NR1I2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:115295	NR1I3	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:109165	NR3C1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:111324	PITX1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111445	BioGRID:111461	PPARA	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:111464	PPARG	BioGRID	PubMed	Reconstituted Complex
BioGRID:111445	BioGRID:113264	VDR	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
RNA polymerase II activating transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
RNA polymerase II transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
negative regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: pituitary-specific positive transcription factor 1

Names: pituitary-specific positive transcription factor 1; growth hormone factor 1; pituitary-specific transcription factor 1; POU domain, class 1, transcription factor 1

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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

NG_008225.1 RefSeqGene

Range

5001..21955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000306.2 → NP_000297.1 pituitary-specific positive transcription factor 1 isoform alpha

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

Consensus CDS

CCDS2919.1

UniProtKB/Swiss-Prot

P28069

Related

ENSP00000263781, OTTHUMP00000213820, ENST00000350375, OTTHUMT00000352827

Conserved Domains (2) summary

cd00086
Location:215 – 273
Blast Score: 154

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.

cl02582
Location:124 – 198
Blast Score: 356

Pou; Pou domain - N-terminal to homeobox domain
NM_001122757.1 → NP_001116229.1 pituitary-specific positive transcription factor 1 isoform beta

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

Consensus CDS

CCDS46873.1

UniProtKB/Swiss-Prot

P28069

Related

ENSP00000342931, OTTHUMP00000213821, ENST00000344265, OTTHUMT00000352828

Conserved Domains (2) summary

cd00086
Location:241 – 299
Blast Score: 158

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.

cl02582
Location:150 – 224
Blast Score: 357

Pou; Pou domain - N-terminal to homeobox domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

87308783..87325737, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

87322012..87338945, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC130885.3 (26693..43648)	None
genomic	CH471110.2	EAW68866.1
		EAW68867.1
genomic	D11333.1	BAA34536.1
genomic	D11334.1	None
genomic	D12892.3	BAA02291.1
genomic	X77223.1	CAA54441.1
genomic	X77224.1	None
mRNA	D10216.1	BAA01068.1
mRNA	L18781.1	AAA60093.1
mRNA	S73501.1	AAB31227.2
mRNA	X62429.1	CAA44295.1
mRNA	X72215.1	CAA51017.1
other-genetic	BC152851.1	AAI52852.1