InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACY1

Summary

InnateDB Protein

IDBP-293070.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACY1

Protein Name

aminoacylase 1

Synonyms

ACY-1; ACY1D; HEL-S-5;

Species

Homo sapiens

Ensembl Protein

ENSP00000384296

InnateDB Gene

IDBG-409436 (ACY1)

Protein Structure

UniProt Annotation

Function

Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). {ECO:0000269PubMed:12933810}.

Subcellular Localization

Cytoplasm.

Disease Associations

Aminoacylase-1 deficiency (ACY1D) [MIM:609924]: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. {ECO:0000269PubMed:16274666, ECO:0000269PubMed:16465618, ECO:0000269PubMed:17562838, ECO:0000269PubMed:21414403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expression is highest in kidney, strong in brain and weaker in placenta and spleen. {ECO:0000269PubMed:16465618}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	11 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004046	aminoacylase activity
GO:0008237	metallopeptidase activity
GO:0016787	hydrolase activity
GO:0046872	metal ion binding

Biological Process

GO:0006508	proteolysis
GO:0006520	cellular amino acid metabolic process
GO:0008152	metabolic process

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR002933 Peptidase M20
IPR010159 N-acyl-L-amino-acid amidohydrolase
IPR011650 Peptidase M20, dimerisation domain

PFAM

PF01546
PF07687

PRINTS

PIRSF

PIRSF036696

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q03154

PhosphoSite

PhosphoSite-Q03154

TrEMBL

V9HWA0

UniProt Splice Variant

Entrez Gene

UniGene

Hs.334707

RefSeq

NP_001185824

HUGO

HGNC:177

OMIM

104620

CCDS

CCDS2844

HPRD

00092

IMGT

EMBL

AC115284 AK298086 BC000545 BC003023 BC014112 CH471055 D14524 D16307 EU794586 L07548

GenPept

AAA02852 AAH00545 AAH03023 AAH14112 ACJ13640 BAA03397 BAA03814 BAG60372 EAW65181