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FLASH GENE

Symbol

POU1F1

contributors: /mct - updated : 06-10-2021

HGNC name	POU class 1 homeobox 1
HGNC id	9210

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CPHD1 pituitary dwarfism, with combined deficiency of TSH, GH and PRL
Location	3p11.2      Physical location : 87.308.782 - 87.325.737
Synonym name	POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
	growth hormone factor 1
	pituitary-specific positive transcription factor 1
Synonym symbol(s)	PIT1, GHF1, POU1F1a

DNA

TYPE	functioning gene
STRUCTURE	16.95 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
	Binding site   transcription factor
text structure	a TATA-like sequence and one single Sp1 site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000306 6 - 1262 NP_000297 32.8 291 major isoform in human pituitary gland 2021 34270938 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) NM_001122757 6 - 1340 NP_001116229 35.5 317 - 2021 34270938 variant (beta), also known as GHF-2 or PIT-2, represents the longer transcript and encodes the longer isoform (beta interferes with alpha-isoform-mediated auto-activation has an insertion of 26 amino acids located at amino acid 48 in the transactivation domain

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular

cells

System Cell Pubmed Species Stage Rna symbol endocrine endocrine cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	Rathke pouch, at an early stage of pituitary development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three main domains, an N-terminal transcription activation domain (TAD), and within the TAD, a beta-domain can be inserted by alternative splicing, giving an extended 'beta-variant' with altered properties
	a POU-specific domain
	a C-terminal homeodomain

HOMOLOGY

interspecies	homolog to Drosophila bicoid
	homolog to murine Pit1

intraspecies

homolog to POU3F3

Homologene

FAMILY	POU transcription factor family
	class 1 subfamily

CATEGORY

DNA associated , transcription factor , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in the specification of the lactotrope, somatotrope and thyrotrope phenotypes in the developing anterior pituitary
	phosphate transporter involved in regulated phosphate handling in bone forming cells
	role of POU1F1 upregulation by HMGA proteins in pituitary tumours
	serves essential functions in the differentiation and proliferation of somatotropes, lactotropes and thyrotropes

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	ETS1 (interactions regulated by phosphorylation of POU1F1)
	binding PITX2
	reciprocally interacting with GATA2 for the mediation of signaling gradient-induced determination of pituitary cell types
	interacting with ANKH (Wang 2009)
	POU1F1 is a transcription factor that regulates TFPI transcription in response to ADTRP
	POU1F1 induces a metabolic reprogramming through LDHA regulation in breast tumor cells, modifying the phenotype of both cancer cells and fibroblasts to promote cancer progression

cell & other

REGULATION

Other

expressed with POMC in a subset of adult anterior pituitary cells

ASSOCIATED DISORDERS

corresponding disease(s)

CPHD1

Susceptibility

to mental retardation, mild and borderline in females to coronary artery disease (CAD)

Variant & Polymorphism SNP , other	increasing the risk of mental retardation, mild and borderline in females
	POU1F1 variants associated to risk of CAD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS