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FLASH GENE

Symbol

BARHL1

contributors: mct - updated : 07-03-2013

HGNC name	BarH-like 1 (Drosophila)
HGNC id	953

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9q34.13      Physical location : 135.457.992 - 135.465.640
Synonym symbol(s)	FKSG31

DNA

TYPE	functioning gene
STRUCTURE	7.65 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   hormone
text structure	a THRB binding site in the promoter of BARHL1

MAPPING

cloned

Y

linked

N

status

provisional

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020064 3 - 1907 NP_064448 - 327 - 2000 10814725

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 Hearing/Equilibrium ear inner     highly Homo sapiens Fetal Nervous brain hindbrain cerebellum cerebellar nuclei highly Homo sapiens Fetal   brain diencephalon hypothalamus mamillary bodies highly Homo sapiens Fetal   ganglia sensory ganglia dorsal root       spinal cord anterior horn     highly Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	restricted domain of developing CNS
	in fetal cerebellar cell layers

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminus with two FIL domains
	an acidic domain rich in serine/threonine and proline
	tyrosine residue at position 49 of homeodomain
	C-terminus contains a canonical proline-rich domain

HOMOLOGY

interspecies	homolog to Drosophila BarH1
	ortholog to murine Barhl1

Homologene

FAMILY

BarH homeogene family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	controling the expression of neural adhesion molecule during embryonic development of both the central and peripherical nervous system
	involved in the differentiation of neuronal progenitors implicated in the pattern formation of human cerebral and cerebellar structures
	plays an essential role in the migration and survival of cerebellar granule cells and precerebellar neurons
	may be involved in the differentiation of the specific subsets of neuronal progenitors
	play an essential role in maintaining inner ear hair cells, cerebellar granule cells, and precerebellar neurons
	crucially required for the survival but not for the specification of zonal layer neurons in the superior colliculus
	having regulatory sequences required for cell-specific gene expression and autoregulation in the inner ear and central nervous system
	homeodomain transcription factor known to regulate migration and survival of granule cell precursors (
	important role in brain development, and potentially perturbations of thyroid hormone-mediated transcriptional control of BARHL1 may play a role in the impaired neurodevelopment induced by hypothyroidism

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

ATOH1 is a key upstream regulator in the inner ear and central nervous system

cell & other

REGULATION

activated by

by the transcription factor ATOH1 which is involved in bone morphogenetic protein response pathways

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   its expression decelerates tumor growth in medulloblastomas

Susceptibility

Variant & Polymorphism

Candidate gene	positional candidate gene for a form of Joubert syndrome
Marker
Therapy target

ANIMAL & CELL MODELS