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FLASH GENE

Symbol

PTF1A

contributors: mct - updated : 28-02-2015

HGNC name	pancreas specific transcription factor, 1a
HGNC id	23734

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_178161 2 - 1339 NP_835455 - 328 - Yamada (2007)

EXPRESSION

Type	restricted

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 pancreas         Homo sapiens Nervous brain hindbrain cerebellum   highly Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

trimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	having a role in pancreatic development and key regulator of cerebellar neurogenesis
	basic helix-loop-helix transcription factor, playing an indispensable role for cell fate specification of subsets of neurons in the developing central nervous system
	trimeric transcription factor essential to the development of the pancreas and to the maintenance of the differentiated state of the adult exocrine pancreas; is a master regulator of differentiation of acinar cells, responsible for the production of digestive enzymes
	PTF1A and ATOH1 are essential and sufficient for GABAergic versus glutamatergic specification in the neuroepithelium
	plays a crucial role in the early development of the pancreas and in the maintenance of the acinar cell phenotype
	PTF1A/TRIP12 functional interaction may regulate pancreatic epithelial cell homeostasis
	alters neuronal morphology, inducing the radial redistribution and branching of neurites in cortical pyramidal cells
	FOXN4, RORB and their downstream effector PTF1A, have been shown to be indispensable intrinsic regulators for the differentiation of amacrine and horizontal cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

a dimer of P48/PTF1a (a pancreas and neural restricted basic helix-loop-helix [BHLH] protein) and a class A BHLH protein, together with a third protein, either the mammalian Suppressor of Hairless (RBPJ)

INTERACTION

DNA

RNA

small molecule

protein	interacts with the RBP subunit primarily through two short conserved tryptophan-containing motifs, similar to the motif of the Notch intracellular domain (NotchIC) that interacts with RBPJ
	PTF1A directly controls expression of immunoglobulin superfamily molecules NPHS1, and KIRREL2 in the developing central nervous system
	cross-antagonism between NKX6-1, NKX6-2 and PTF1A in multipotent progenitors governs the equilibrium between endocrine and acinar cell neogenesis required for normal pancreas development
	PTF1A-induced DLL1 expression stimulates multipotent pancreatic progenitor cells (MPCs) proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels
	CTNNBIP1 is a novel PTF1A interactor, and regulates negatively PTF1A activity
	RORB and FOXN4 synergistically induce PTF1A expression, suggesting a central role for RORB in a transcriptional hierarchy that directs this interneuron differentiation pathway
	GABAergic inducing activity of ASCL1 requires the direct transcriptional regulation of PTF1A, providing therefore a new piece of the network governing neurotransmitter subtype specification during retinogenesis
	MKNK1 is a direct PTF1A target
	TRIP12 is an E3 ubiquitin-protein ligase as a new partner of PTF1A (protein stability of PTF1A is significantly increased upon decreased expression of TRIP12)
	induces expression of the peptidergic neurotransmitter nociceptin, while minimally affecting the expression of genes linked to other neurotransmitter systems

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IDPC

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

misexpression of Ptf1a, in the notochord, hindgut, cloaca, and mesonephros was sufficient to replicate the murine Danforth short tail (Sd) phenotype