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Protein

Aminoacylase-1

Gene

ACY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 PublicationNote: Binds 2 Zn2+ ions per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi80Zinc 11
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei82By similarity1
Metal bindingi113Zinc 11
Metal bindingi113Zinc 21
Active sitei147Proton acceptor1 Publication1
Metal bindingi148Zinc 21
Metal bindingi175Zinc 11
Metal bindingi373Zinc 21

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • aminoacylase activity Source: GO_Central
  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • metallopeptidase activity Source: InterPro

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03800-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.14 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5423646 Aflatoxin activation and detoxification
R-HSA-5579007 Defective ACY1 causes encephalopathy

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q03154

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M20.973

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Aminoacylase-1 (EC:3.5.1.14)
Short name:
ACY-1
Alternative name(s):
N-acyl-L-amino-acid amidohydrolase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACY1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000243989.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:177 ACY1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
104620 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03154

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Aminoacylase-1 deficiency (ACY1D)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:609924
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_043113197R → W in ACY1D; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121912700EnsemblClinVar.1
Natural variantiVAR_026104233E → D in ACY1D; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121912699EnsemblClinVar.1
Natural variantiVAR_026105353R → C in ACY1D; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs121912698Ensembl.1
Natural variantiVAR_065562378R → Q in ACY1D. 1 PublicationCorresponds to variant dbSNP:rs150480963Ensembl.1
Natural variantiVAR_065563378R → W in ACY1D; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs148346337EnsemblClinVar.1
Natural variantiVAR_020452386R → C in ACY1D; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs2229152Ensembl.1
Natural variantiVAR_043114393R → H in ACY1D. 1 PublicationCorresponds to variant dbSNP:rs121912701EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi80H → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi113D → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi147E → A or Q: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi147E → D: Decreased protein stability. Loss of enzyme activity. 1 Publication1
Mutagenesisi148E → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi175E → A: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi206H → N: Almost abolishes enzyme activity. 1 Publication1
Mutagenesisi373H → A: Almost abolishes enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
95

MalaCards human disease database

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MalaCardsi
ACY1
MIMi609924 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000243989

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
137754 Neurological conditions associated with aminoacylase 1 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24497

Chemistry databases

Drug and drug target database

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DrugBanki
DB06151 Acetylcysteine
DB00128 L-Aspartic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACY1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
461466

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001852361 – 408Aminoacylase-1Add BLAST408

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q03154

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q03154

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q03154

PeptideAtlas

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PeptideAtlasi
Q03154

PRoteomics IDEntifications database

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PRIDEi
Q03154

ProteomicsDB human proteome resource

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ProteomicsDBi
58194

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00009268

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q03154

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q03154

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expression is highest in kidney, strong in brain and weaker in placenta and spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000243989 Expressed in 88 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

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CleanExi
HS_ACY1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q03154 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q03154 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB003695
HPA036174
HPA036175

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Interacts with SPHK1 (By similarity).By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106610, 24 interactors

Protein interaction database and analysis system

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IntActi
Q03154, 18 interactors

Molecular INTeraction database

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MINTi
Q03154

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000384296

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1408
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Q7LX-ray1.40A/C1-198[»]
B/D321-408[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q03154

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q03154

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q03154

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M20A family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2275 Eukaryota
COG0624 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155631

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000021196

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000982

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q03154

KEGG Orthology (KO)

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KOi
K14677

Database of Orthologous Groups

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OrthoDBi
1432382at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q03154

TreeFam database of animal gene trees

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TreeFami
TF313693

Family and domain databases

Conserved Domains Database

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CDDi
cd05646 M20_AcylaseI_like, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001261 ArgE/DapE_CS
IPR036264 Bact_exopeptidase_dim_dom
IPR010159 N-acyl_aa_amidohydrolase
IPR002933 Peptidase_M20
IPR011650 Peptidase_M20_dimer

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07687 M20_dimer, 1 hit
PF01546 Peptidase_M20, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF55031 SSF55031, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01880 Ac-peptdase-euk, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00758 ARGE_DAPE_CPG2_1, 1 hit
PS00759 ARGE_DAPE_CPG2_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q03154-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTSKGPEEEH PSVTLFRQYL RIRTVQPKPD YGAAVAFFEE TARQLGLGCQ
60 70 80 90 100
KVEVAPGYVV TVLTWPGTNP TLSSILLNSH TDVVPVFKEH WSHDPFEAFK
110 120 130 140 150
DSEGYIYARG AQDMKCVSIQ YLEAVRRLKV EGHRFPRTIH MTFVPDEEVG
160 170 180 190 200
GHQGMELFVQ RPEFHALRAG FALDEGIANP TDAFTVFYSE RSPWWVRVTS
210 220 230 240 250
TGRPGHASRF MEDTAAEKLH KVVNSILAFR EKEWQRLQSN PHLKEGSVTS
260 270 280 290 300
VNLTKLEGGV AYNVIPATMS ASFDFRVAPD VDFKAFEEQL QSWCQAAGEG
310 320 330 340 350
VTLEFAQKWM HPQVTPTDDS NPWWAAFSRV CKDMNLTLEP EIMPAATDNR
360 370 380 390 400
YIRAVGVPAL GFSPMNRTPV LLHDHDERLH EAVFLRGVDI YTRLLPALAS

VPALPSDS
Length:408
Mass (Da):45,885
Last modified:February 1, 1994 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i293350CD7759826C
GO
Isoform 2 (identifier: Q03154-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-174: Missing.

Note: Gene prediction based on EST data.
Show »
Length:336
Mass (Da):37,597
Checksum:i68C1E4266A8CBE70
GO
Isoform 3 (identifier: Q03154-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     220-284: Missing.

Note: Gene prediction based on EST data.
Show »
Length:343
Mass (Da):38,629
Checksum:i75F9FBDC8348189E
GO
Isoform 4 (identifier: Q03154-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-66: Missing.

Note: Gene prediction based on EST data.
Show »
Length:373
Mass (Da):42,195
Checksum:i343DC089BDBDC22F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYZ0C9JYZ0_HUMAN
Aminoacylase-1
ACY1
228Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WC59F8WC59_HUMAN
Aminoacylase-1
ACY1
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU86A0A1B0GU86_HUMAN
Aminoacylase-1
ACY1
373Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTG3A0A1B0GTG3_HUMAN
Aminoacylase-1
ACY1
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU36A0A1B0GU36_HUMAN
Aminoacylase-1
ACY1
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVZ3A0A1B0GVZ3_HUMAN
Aminoacylase-1
ACY1
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVG0A0A1B0GVG0_HUMAN
Aminoacylase-1
ACY1
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVF7A0A1B0GVF7_HUMAN
Aminoacylase-1
ACY1
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUZ4A0A1B0GUZ4_HUMAN
Aminoacylase-1
ACY1
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051805179N → S. Corresponds to variant dbSNP:rs887540EnsemblClinVar.1
Natural variantiVAR_043113197R → W in ACY1D; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121912700EnsemblClinVar.1
Natural variantiVAR_026104233E → D in ACY1D; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121912699EnsemblClinVar.1
Natural variantiVAR_026105353R → C in ACY1D; loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs121912698Ensembl.1
Natural variantiVAR_065562378R → Q in ACY1D. 1 PublicationCorresponds to variant dbSNP:rs150480963Ensembl.1
Natural variantiVAR_065563378R → W in ACY1D; slightly reduced activity. 1 PublicationCorresponds to variant dbSNP:rs148346337EnsemblClinVar.1
Natural variantiVAR_036076381E → D in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_020452386R → C in ACY1D; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs2229152Ensembl.1
Natural variantiVAR_043114393R → H in ACY1D. 1 PublicationCorresponds to variant dbSNP:rs121912701EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04687632 – 66Missing in isoform 4. CuratedAdd BLAST35
Alternative sequenceiVSP_046877103 – 174Missing in isoform 2. CuratedAdd BLAST72
Alternative sequenceiVSP_046878220 – 284Missing in isoform 3. CuratedAdd BLAST65

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L07548 mRNA Translation: AAA02852.1
D14524 mRNA Translation: BAA03397.1
D16307 mRNA Translation: BAA03814.1
AC115284 Genomic DNA No translation available.
BC000545 mRNA Translation: AAH00545.1
BC003023 mRNA Translation: AAH03023.1
BC014112 mRNA Translation: AAH14112.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2844.1 [Q03154-1]
CCDS56261.1 [Q03154-2]
CCDS56262.1 [Q03154-3]
CCDS56263.1 [Q03154-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
A47488

NCBI Reference Sequences

More...
RefSeqi
NP_000657.1, NM_000666.2 [Q03154-1]
NP_001185824.1, NM_001198895.1 [Q03154-1]
NP_001185825.1, NM_001198896.1 [Q03154-2]
NP_001185826.1, NM_001198897.1 [Q03154-3]
NP_001185827.1, NM_001198898.1 [Q03154-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.334707

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000404366; ENSP00000384296; ENSG00000243989 [Q03154-1]
ENST00000476351; ENSP00000417056; ENSG00000243989 [Q03154-4]
ENST00000476854; ENSP00000419262; ENSG00000243989 [Q03154-3]
ENST00000494103; ENSP00000417618; ENSG00000243989 [Q03154-2]
ENST00000636358; ENSP00000490149; ENSG00000243989 [Q03154-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
95

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:95

UCSC genome browser

More...
UCSCi
uc021wzb.2 human [Q03154-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07548 mRNA Translation: AAA02852.1
D14524 mRNA Translation: BAA03397.1
D16307 mRNA Translation: BAA03814.1
AC115284 Genomic DNA No translation available.
BC000545 mRNA Translation: AAH00545.1
BC003023 mRNA Translation: AAH03023.1
BC014112 mRNA Translation: AAH14112.1
CCDSiCCDS2844.1 [Q03154-1]
CCDS56261.1 [Q03154-2]
CCDS56262.1 [Q03154-3]
CCDS56263.1 [Q03154-4]
PIRiA47488
RefSeqiNP_000657.1, NM_000666.2 [Q03154-1]
NP_001185824.1, NM_001198895.1 [Q03154-1]
NP_001185825.1, NM_001198896.1 [Q03154-2]
NP_001185826.1, NM_001198897.1 [Q03154-3]
NP_001185827.1, NM_001198898.1 [Q03154-4]
UniGeneiHs.334707

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Q7LX-ray1.40A/C1-198[»]
B/D321-408[»]
ProteinModelPortaliQ03154
SMRiQ03154
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106610, 24 interactors
IntActiQ03154, 18 interactors
MINTiQ03154
STRINGi9606.ENSP00000384296

Chemistry databases

DrugBankiDB06151 Acetylcysteine
DB00128 L-Aspartic Acid

Protein family/group databases

MEROPSiM20.973

PTM databases

iPTMnetiQ03154
PhosphoSitePlusiQ03154

Polymorphism and mutation databases

BioMutaiACY1
DMDMi461466

2D gel databases

REPRODUCTION-2DPAGEiIPI00009268

Proteomic databases

EPDiQ03154
jPOSTiQ03154
PaxDbiQ03154
PeptideAtlasiQ03154
PRIDEiQ03154
ProteomicsDBi58194

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
95
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000404366; ENSP00000384296; ENSG00000243989 [Q03154-1]
ENST00000476351; ENSP00000417056; ENSG00000243989 [Q03154-4]
ENST00000476854; ENSP00000419262; ENSG00000243989 [Q03154-3]
ENST00000494103; ENSP00000417618; ENSG00000243989 [Q03154-2]
ENST00000636358; ENSP00000490149; ENSG00000243989 [Q03154-1]
GeneIDi95
KEGGihsa:95
UCSCiuc021wzb.2 human [Q03154-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
95
DisGeNETi95
EuPathDBiHostDB:ENSG00000243989.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACY1
HGNCiHGNC:177 ACY1
HPAiCAB003695
HPA036174
HPA036175
MalaCardsiACY1
MIMi104620 gene
609924 phenotype
neXtProtiNX_Q03154
OpenTargetsiENSG00000243989
Orphaneti137754 Neurological conditions associated with aminoacylase 1 deficiency
PharmGKBiPA24497

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2275 Eukaryota
COG0624 LUCA
GeneTreeiENSGT00940000155631
HOGENOMiHOG000021196
HOVERGENiHBG000982
InParanoidiQ03154
KOiK14677
OrthoDBi1432382at2759
PhylomeDBiQ03154
TreeFamiTF313693

Enzyme and pathway databases

BioCyciMetaCyc:HS03800-MONOMER
BRENDAi3.5.1.14 2681
ReactomeiR-HSA-5423646 Aflatoxin activation and detoxification
R-HSA-5579007 Defective ACY1 causes encephalopathy
SABIO-RKiQ03154

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ACY1 human
EvolutionaryTraceiQ03154

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ACY1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
95

Protein Ontology

More...
PROi
PR:Q03154

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000243989 Expressed in 88 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_ACY1
ExpressionAtlasiQ03154 baseline and differential
GenevisibleiQ03154 HS

Family and domain databases

CDDicd05646 M20_AcylaseI_like, 1 hit
InterProiView protein in InterPro
IPR001261 ArgE/DapE_CS
IPR036264 Bact_exopeptidase_dim_dom
IPR010159 N-acyl_aa_amidohydrolase
IPR002933 Peptidase_M20
IPR011650 Peptidase_M20_dimer
PfamiView protein in Pfam
PF07687 M20_dimer, 1 hit
PF01546 Peptidase_M20, 1 hit
SUPFAMiSSF55031 SSF55031, 1 hit
TIGRFAMsiTIGR01880 Ac-peptdase-euk, 1 hit
PROSITEiView protein in PROSITE
PS00758 ARGE_DAPE_CPG2_1, 1 hit
PS00759 ARGE_DAPE_CPG2_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACY1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q03154
Secondary accession number(s): C9J6I6, C9J9D8, C9JWD4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: January 16, 2019
This is version 186 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Peptidase families
    Classification of peptidase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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