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FLASH GENE

Symbol

HEYL

contributors: npt/mct - updated : 11-01-2012

HGNC name	hairy/enhancer-of-split related with YRPW motif-like
HGNC id	4882

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	16.25 kb     5 Exon(s)

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

motif

repetitive sequence   triplet

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014571 5 - 4131 35.1 328 - 2000 10860664

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 Cardiovascular heart         Endocrine pancreas         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	basic helix-loop-helix (HLH) domain
	an adjacent orange domain
	C-terminal region, which appears to be instrumental in AR repression, contains two short AA motifs showing conservation between HEY family members

HOMOLOGY

interspecies

homolog to murine Heyl

Homologene

FAMILY

Hairy/Enhancer-of-split-related with YRPW-like motif (HEY) family of proteins

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	invoved in controlling Notch induced endocardial epithelial to mesenchymal transition, a process critical for valve and septum formation
	promotes neuronal differentiation of neural progenitor cells both in culture and in the embryonic brain
	promotes neuronal differentiation of neural progenitor cells by activating proneural genes and by inhibiting the actions of other HES and HEY family members
	HESR family (HEY1, HEY2, HEYL)is involved in dopamine transporter (SLC6A3) expression via the VNTR domain
	represses endogenous AR-regulated genes and reduces androgen-dependent prostate cancer cell growth
	is excluded from the nuclei of cancer cells but not benign cells, indicating that nuclear exclusion of HEYL occurs in the early stages of prostate cancer formation or progression
	HEY1 and HEYL (which are known Notch target genes) are expressed simultaneously in skeletal muscle only in satellite cells

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

HES/HERP heterodimer for NOTCH signaling

INTERACTION

DNA

RNA

small molecule

protein	interacting with HEY1
	target of NOTCH
	binds to and activates the promoter of the proneural gene neurogenin2, which is inhibited by other HES and HEY family members, and is a weak inhibitor of the HES1 promoter
	more potent repressor of AR activity
	AR corepressor that down-regulates AR activity by functionally competing with SRC1 (and possibly other coactivators), resulting in attenuated SRC1 loading at the regulatory regions of AR target genes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function inactivation of HEY1 and HEYL, two primary target genes of Notch, causes severe heart malformations, including membranous ventricular septal defects and dysplastic atrioventricular and pulmonary valves tumoral     --over   represses AR-regulated genes and hormone-dependent prostate cancer cell line growth

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS