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FLASH GENE

Symbol

NHLH1

contributors: mct - updated : 06-11-2010

HGNC name	nescient helix loop helix 1
HGNC id	7817

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q23.2      Physical location : 160.336.860 - 160.342.638
Synonym name	class A basic helix-loop-helix protein 35
Synonym symbol(s)	HEN1, NSA, NSCL1, NSCL, bHLHa35

DNA

TYPE	functioning gene
STRUCTURE	5.78 kb     2 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter was found to be bound and activated by GLI1 transcription factor

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_005598 2 - 2594 NP_005589 - 133 - 2003 12878195

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)

cell lineage
cell lines	neuroblastoma cell line
fluid/secretion

at STAGE

physiological period

embryo

Text	transiently, during neuro-genesis
	expressionin all developing cranial ganglia including the petrosal and vestibulocochlear ganglion, in inner and outer hair cells of the organ of Corti and in hair cells of the vestibular system. Expression domains in other sensory structures include the retina, Merkel cells of the developing skin and sensory cells of the tongue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

basic helix-loop-helix (HLH) protein

HOMOLOGY

intraspecies

homolog to TAL1

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in retinal development
	with NHLH2, maintain migration and survival of cells in the anterior extramural migration stream (aes)
	may act at the terminal stages of mammalian neurogenesis and not at the early, fate determination stages

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with LMO2 and LMO4 (modulating its transcriptional activity)
	modulated by the transcriptional activity of LMO
	NEUROD1 was essential for NHLH1 induction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in medulloblastoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS