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FLASH GENE

Symbol

NPAS3

contributors: mct/npt - updated : 28-10-2009

HGNC name	neuronal PAS domain protein 3
HGNC id	19311

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q13.1      Physical location : 33.408.458 - 34.273.381
Synonym name	basic helix loop helix PAS protein 3
	basic-helix-loop-helix-PAS protein MOP6
	neuronal PAS3
Synonym symbol(s)	MOP6, PASD6, bHLHe12

DNA

TYPE	functioning gene
STRUCTURE	864.92 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_001164749 - - 5939 NP_001158221 - 933 - Kamnasaran, Zhou (2009) NM_022123 11 - 5843 NP_071406 - 901 - Kamnasaran, Zhou (2009) only one PAS domain NM_001165893 - - 5849 NP_001159365 - 903 - Zhou (2009) NM_173159 12 - 5900 - - - Zhou (2009)

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 Nervous brain forebrain cerebral cortex       brain hindbrain cerebellum       brain basal nuclei putamen       brain diencephalon amygdala       brain basal nuclei corpus callosum       spinal cord

cells

System Cell Pubmed Species Stage Rna symbol nervous brain Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	brain, cardiac valves, limb, kidney, in developing lungs (Zhou 2009)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two PAS (per-arnt-sim) dimerization domains
	one PAS-associated c-terminal (PAC) domain
	bipartite nuclear localisation signal at the Cterminus

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

basic helix-loop-helix (BHLH) family of transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	neuronal transcription factor
	plays an important role in early lung morphogenesis by regulating expression of multiple genes that play major roles in organogenesis (Zhou 2009)
	essential for normal lung development and plays a significant role in maintaining lung homeostasis,
	because haploinsufficient adults develop alveolar loss and airways (Zhou 2009)
	during development, functions by transactivating genes
	important for lung development and/or regeneration,
	such as SHH, and genes implicated in maintaining lung
	homeostasis (Zhou 2009)
	could also play a role in bronchopulmonary dysplasia (Zhou 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dimerization with another BHLH protein for efficient DNA binding

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to schizophrenia and mental illness

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

impaired lung structure and function in Npas3-deficient mice lead to pulmonary lethality shortly after birth (Zhou 2009)