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FLASH GENE

Symbol

ACY1

contributors: - updated : 13-10-2006

HGNC name	aminoacylase 1
HGNC id	177

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACY1D aminoacylase 1 deficiency
Location	3p21.1      Physical location : 52.017.562 - 52.023.217
Synonym name	N-acyl-L-amino-acid amidohydrolase
Synonym symbol(s)	ACYLASE
EC.number	3.5.1.14

DNA

TYPE	functioning gene
STRUCTURE	5.00 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D3S11 - PDHB PDHB - MST1 - RHOA - GNAI2 - ACY1 - D3S92 - D3S2 - PTPRG - D3S6 - cen
Authors	LaForgia (93), Shridhar (94)

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	ubiquitous

constitutive of

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 large intestine colon   moderately   liver       highly Lymphoid/Immune spleen       moderately   thymus       moderately Reproductive female system uterus cervix   predominantly   female system ovary     moderately Skin/Tegument skin       moderately Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a dimerization domain flanked by two peptidase domains, essential for catalytic activity

conjugated

PhosphoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to rattus Acy1
	ortholog to murine Acy1

Homologene

FAMILY

peptidase M20B family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	acting as a metallopeptidase
	catalyzing the hydrolysis of acylated L-amino acids (except L-aspartate) to L-amino acids and acyl group

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACY1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS