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FLASH GENE

Symbol

ECEL1

contributors: mct - updated : 14-02-2013

HGNC name	endothelin converting enzyme-like 1
HGNC id	3147

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCD5D arthrogryposis type 5D distal
Location	2q37.1      Physical location : 233.344.536 - 233.352.532
Synonym name	X converting enzyme
	Damage-induced neuronal endopeptidase
Synonym symbol(s)	XCE, ECEX, DINE

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	double duplication
STRUCTURE	7.99 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - FAM6A - ALPPP - ECEL1P3 - ALPP - ECEL1P2 - ALPPL2 - ECEL1P1 - FAM6B - ALPI - ECEL1 - CHRND - CHRNG - qter
Authors	Rump (01)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004826 18 - 2872 NP_004817 - 775 - 2004 14992683

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 Digestive intestine small intestine       nervous brain basal nuclei putamen   highly Nervous brain basal nuclei     highly   brain hindbrain medulla oblongata   highly   brain diencephalon amygdala       brain basal nuclei caudate nucleus       brain diencephalon thalamus       spinal cord anterior horn     highly Mus musculus Adult Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous peripherous     predominantly Homo sapiens Fetal mRNA

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	prenyl group binding site (CAAX box)
	short cytosolic domains
	large extracellular domains containing the active site

conjugated

MetalloP

HOMOLOGY

intraspecies

homolog to ECE1

Homologene

FAMILY

neutral endopeptidase related family, neprilysin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	playing a critical role in the nervous regulation of the respiratory system
	might play an important role in embryonic neural development, in particular in peripheral ganglia derived from the neural crest, and in some neurons originating from the basal plate such as the hypothalamus and cranial motor neurons
	is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

respiration

PATHWAY

metabolism

metal

signaling

zinc metalloproteinase

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	zinc Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD5D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Dine-deficient mice died of respiratory failure resulting from a dysfunction of the diaphragm, which showed severe atrophy