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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACY1 Gene

protein-coding GIFtS: 64
GCID: GC03P052017

aminoacylase 1

Explore 16 diseases affiliated with
ACY1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Aminoacylase 1¹ ²		ACY1D² ⁵
ACY-1² ³		Acylase¹
N-Acyl-L-Amino-Acid Amidohydrolase² ³		Aminoacylase-1¹
EC 3.5.1.14³ ⁸		EC 3.5.1⁸

External Ids:	HGNC: 177¹	Entrez Gene: 95²	Ensembl: ENSG00000243989⁷	OMIM: 104620⁵	UniProtKB: Q03154³

ORGUL members:
	NONCODE:n410328

Export aliases for ACY1 gene to outside databases

Previous GC identifers: GC03P051110 GC03P051270 GC03P051873 GC03P051976 GC03P051992 GC03P052009

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACY1:

This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids

to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated

amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer

(SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino

acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first

member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic

disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids.

Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists

between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in

GeneID:100526760. A related pseudogene has been identified on chromosome 18. (provided by RefSeq, Nov 2010)

UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154

Function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate)

Gene Wiki entry for ACY1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACY1 gene promoter:
PPAR-alpha MZF-1 MIF-1 HNF-4alpha2 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACY1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACY1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACY1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.1 Ensembl cytogenetic band: 3p21.2 HGNC cytogenetic band: 3p21.2

ACY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACY1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P052017: view genomic region (about GC identifiers)

Start:	52,009,066 bp from pter	End:	52,023,218 bp from pter
Size:	14,153 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154 (See protein sequence)

Recommended Name: Aminoacylase-1

Size: 408 amino acids; 45885 Da

Cofactor: Binds 2 zinc ions per subunit

Subunit: Homodimer. Interacts with SPHK1 (By similarity)

Subcellular location: Cytoplasm

1 PDB 3D structure from and Proteopedia for ACY1:

1Q7L (3D)

Explore the universe of human proteins at neXtProt for ACY1: NX_Q03154

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q03154

4/12 DME Specific Peptides for ACY1 (Q03154) (see all 12)

PGHASRF

RYIRAVG

PWWAAFS

RGAQDMK

ACY1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000657.1 NP_001185824.1 NP_001185825.1 NP_001185826.1 NP_001185827.1

ENSEMBL proteins:

ENSP00000418683 ENSP00000419262 ENSP00000417056 ENSP00000417618 ENSP00000384296

ENSP00000419830 ENSP00000390557

Human Recombinant Protein Products for ACY1:

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	Sino Biological Recombinant Protein for ACY1
	ProSpec Recombinant Protein for ACY1
	Uscn Proteins for ACY1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	8394326

ACY1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ACY1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACY1 for domains About GeneDecksing

4 InterPro domains/families:

IPR011650 Peptidase_M20_dimer

IPR001261 ArgE/DapE_CS

IPR002933 Peptidase_M20

IPR010159 N-acyl_aa_amidohydrolase

Graphical View of Domain Structure for InterPro Entry Q03154

ProtoNet protein and cluster: Q03154

1 Blocks protein family: IPB011650 Peptidase dimerisation

UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154

Similarity: Belongs to the peptidase M20A family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACY1_HUMAN, Q03154

Function: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate)

Catalytic activity: An N-acyl-L-amino acid + H(2)O = a carboxylate + an L-amino acid

Genatlas biochemistry entry for ACY1:

aminoacylase 1

Enzyme Numbers (IUBMB): EC 3.5.1.14¹ ² EC 3.5.1²

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004046	aminoacylase activity	IEA	--
GO:0008237	metallopeptidase activity	IEA	--
GO:0046872	metal ion binding	IEA	--

ACY1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ACY1:

Upregulation of Wnt/beta-caten

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACY1

miRNA Products:		OriGene 3'-UTR Clone: ACY1 Browse MicroRNA Expression Plasmids
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACY1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Arginine and proline metabolism

Arginine and proline metabolism

1.00

Urea cycle and metabolism of amino groups

0.36

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for ACY1

Urea cycle and metabolism of amino groups

2 Kegg Pathways (Kegg details for ACY1):

	Arginine and proline metabolism
	Metabolic pathways

ACY1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACY1

5/6 Interacting proteins for ACY1 (Q03154^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TTC1	Q99614²^,³	MINT-66237 I2D: score=5
BBS2	Q9BXC9³	I2D: score=1
BBS4	Q96RK4³	I2D: score=1
BBS7	Q8IWZ6³	I2D: score=1
NIF3L1	Q9GZT8³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006520	cellular amino acid metabolic process	IEA	--

ACY1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACY1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACY1

10/14 HMDB Compounds for ACY1 (see all 14) About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetic acid	Acetate (see all 12)	64-19-7	--
Arachidic acid	Arachate (see all 10)	506-30-9	--
Arachidonic acid	5,8,11,14-Eicosatetraenoic acid (see all 16)	506-32-1	--
Heptadecanoic acid	Heptadecanoate (see all 16)	506-12-7	--
Heptadecanoyl CoA	Heptadecanoyl coenzyme A (see all 19)	3546-17-6	--
Myristic acid	1-Tridecanecarboxylate (see all 15)	544-63-8	--
N-Acetylglutamine	N2-Acetyl-L-glutamine (see all 9)	2490-97-3	--
N-Acetylornithine	(2S)-2-acetamido-5-aminopentanoic acid (see all 5)	--	--
Ornithine	(+)-S-Ornithine (see all 9)	70-26-8	--
Palmitic acid	Hexaectylic acid (see all 45)	57-10-3	--

1 DrugBank Compound for ACY1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Aspartic Acid	(+)-Aspartic acid (see all 23)	56-84-8	target	--	17139284 17016423 1284246

10 Novoseek chemical compound relationships for ACY1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutaryl-7-aminocephalosporanic acid	93.9	17	15221226 (2), 8031081 (1), 11910763 (1), 9721298 (1) (see all 6)
7-aminocephalosporanic acid	88.9	7	11910763 (1), 10991936 (1), 12665670 (1)
cephalosporin c	86.7	5	1776668 (1), 15358003 (1)
n-acetylornithine	78.8	1	10965943 (1)
cephalosporin	51	1	16276875 (1)
beta-lactam	41.9	3	16495538 (1), 15358003 (1)
penicillin	37.4	3	12827318 (1), 15358003 (1), 16276875 (1)
n acetylcysteine	36.1	8	10820133 (2), 16950796 (1), 11848284 (1)
polyacrylamide	18.1	1	9688818 (1)
fatty acid	0	1	16495538 (1)

Search CenterWatch for drugs/clinical trials and news about ACY1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACY1 gene (5 alternative transcripts):

NM_000666.2 NM_001198895.1 NM_001198896.1 NM_001198897.1 NM_001198898.1

Unigene Cluster for ACY1:

Aminoacylase 1

Hs.334707 [show with all ESTs]

Unigene Representative Sequence: NR_037192

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000496679 ENST00000491318 ENST00000476854(uc021wzd.1) ENST00000476351(uc021wzb.1)

ENST00000494103(uc021wzc.1) ENST00000404366(uc003dcp.3 uc003dcq.3)

ENST00000465121(uc011beb.2) ENST00000469863 ENST00000468068 ENST00000464587

ENST00000490244 ENST00000458031

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Additional cDNA sequence:

AK298274.1 BC000545.2 BC003023.1 BC014112.2 D14524.1 D16307.1 L07548.1 NR_037192.1

24/26 DOTS entries (see all 26):

DT.100661294 DT.97862503 DT.450006 DT.100031645 DT.91756768 DT.120854083 DT.95204252 DT.101984978

DT.100885776 DT.86846444 DT.95204319 DT.91941554 DT.95204270 DT.100885779 DT.100707975 DT.100885796

DT.100885797 DT.120854139 DT.120854266 DT.91915382 DT.100685918 DT.120854112 DT.120854150 DT.216645

24/446 AceView cDNA sequences (see all 446):

L07548 BU501085 CA455065 CR607052 BM832229 BU159714 BM727126 CA446152

BE168010 BX101201 BM923786 BM925157 BC003023 BM673744 CB125500 CA308876

BU742163 BE296669 AW299786 BC002571 BQ934069 CD014025 NM_000666 CB161164

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACY1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ACY1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Myoblasts

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACY1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACY1

SOURCE GeneReport for Unigene cluster: Hs.334707

UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154

Tissue specificity: Expression is highest in kidney, strong in brain and weaker in placenta and spleen

SABiosciences Expression via Pathway-Focused PCR Array including ACY1:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACY1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACY1 gene from 8/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100858836¹	aminoacylase-1-like	71.85(n) 69.92(a)		100858836 XM_003641985.1 XP_003642033.1
lizard (Anolis carolinensis)	Reptilia	--	--	66(a)	1 → many	2(153097055-153119597)
African clawed frog (Xenopus laevis)	Amphibia	MGC68640²	hypothetical protein MGC68640	76.33(n)		BC061653.1
zebrafish (Danio rerio)	Actinopterygii	zgc55605²	similar to aminoacylase 1	75.15(n)		393970 BC045399.1
fruit fly (Drosophila melanogaster)	Insecta	CG6465³	aminoacylase	49(a) (best of 6)		86C4 --
worm (Caenorhabditis elegans)	Secernentea	C10C5.3³ C06A6.4¹	aminoacylase-1³ Protein C06A6.4¹	47(a) (best of 4)³ 51.87(n)¹ 48.47(a)¹		IV(9375035-9376602)³ 177571¹ NM_001026130.4¹ NP_001021301.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G44180¹	aminoacylase	48.99(n) 41.92(a)		841021 NM_103542.1 NP_175082.1
rice (Oryza sativa)	Liliopsida	Os06g0210200¹	hypothetical protein	51.91(n) 44.78(a)		4340457 NM_001063648.1 NP_001057113.1

ENSEMBL Gene Tree for ACY1 (if available)
TreeFam Gene Tree for ACY1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACY1 gene

PM20D1² ABHD14A-ACY1²

1 SIMAP similar gene for ACY1 using alignment to 7 protein entries: ACY1_HUMAN (see all proteins):

ABHD14A-ACY1

ACY1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for ACY1
PGOHUM00000234959

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912701^1,2	C,F	pathogenic	80448939(+)	`TACACG/ACCTGC`	10	/H /R	mis¹		2		NA EU	5875
rs121912698^1,2	C,F	pathogenic	80449144(+)	`ATATCC/TGCGCG`	10	R C	mis¹		2		NA EU	5543
rs121912700^1,2	C,F	pathogenic	80450972(+)	`GGGTGC/TGGGTT`	10	R W	mis¹		2		NA EU	5241
rs144950618^1,2		--	52015331(+)	`GAATGC/GGCCAC`	7	--	int¹ us2k¹		0	--	--	--	--
rs148968601^1,2		--	52015332(+)	`AATGCG/TCCACT`	7	--	us2k¹ int¹		0	--	--	--	--
rs114952947^1,2		--	52015397(+)	`GGTATG/AATGGC`	7	--	int¹ us2k¹		1		NA	120
rs143788494^1,2		--	52015595(+)	`GGGAAC/TGCGAT`	7	--	int¹ us2k¹		0	--	--	--	--
rs151113757^1,2		--	52015598(+)	`AACGCG/TATTTA`	7	--	int¹ us2k¹		0	--	--	--	--
rs142661076^1,2		--	52015770(+)	`GTGGCA/GGGTGA`	6	--	us2k¹ int¹		0	--	--	--	--
rs183235741^1,2		--	52016222(+)	`GGCAGC/GAGAGT`	6	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ACY1 (52009066 - 52023218 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACY1: --
Human Gene Mutation Database (HGMD): ACY1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACY1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACY1 for disorders           About GeneDecksing

OMIM gene information: 104620
OMIM disorders: 609924
UniProtKB/Swiss-Prot: ACY1_HUMAN, Q03154

Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:609924]. ACY1D results in a metabolic

disorder manifesting with 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

16 diseases for ACY1: About MalaCards

aminoacylase 1 deficiency metabolic disorders lung cancer greig cephalopolysyndactyly syndrome

systolic heart failure syringomyelia herpes simplex renal cell carcinoma

hypotonia lung carcinoma carcinoma breast cancer

neuroblastoma tuberculosis mycobacterium tuberculosis alcoholism

6 Novoseek disease relationships for ACY1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carcinoma renal cell	33.3	2	1707030 (1), 19028700 (1)
cancer lung	17.7	2	1707030 (1)
small cell lung cancer	16.3	2	8394326 (1), 2006156 (1)
tumors	0	5	19028700 (2), 1707030 (1), 8394326 (1), 12548635 (1)
carcinoma	0	1	10516434 (1)
cancer	0	1	16950796 (1)

Export disorders for ACY1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACY1 gene, integrated from 9 sources (see all 94):
(articles sorted by number of sources associating them with ACY1)

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world of online information

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. (PubMed id 16465618)^{1, 2, 9} Sass J.O.... Omran H. (2006)
Human aminoacylase-1. Cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer. (PubMed id 8394326)^{1, 2, 9} Cook R.M.... Miller Y.E. (1993)
Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18. (PubMed id 1707030)^{1, 3, 9} Miller Y.E....Fisher J.H. (1990)
The nucleotide sequence of human aminoacylase-1. (PubMed id 8357837)^{1, 2, 9} Mitta M.... Tsunasawa S. (1993)
Neurological findings in aminoacylase 1 deficiency. (PubMed id 17562838)^{1, 2, 9} Sass J.O.... Omran H. (2007)
Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family. (PubMed id 12933810)^{1, 2, 9} Lindner H.A....Menard R. (2003)
Aminoacylase I deficiency: a novel inborn error of metabolism. (PubMed id 16274666)^{1, 2, 9} Van Coster R.N....Lissens W. (2005)
The molecular basis of aminoacylase 1 deficiency. (PubMed id 21414403)^{1, 2} Sommer A....Sass J.O. (2011)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. (PubMed id 6948533)^{1, 3} Voss R....Bobrow M. (1980)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 95	HGNC: 177	AceView: ACY1andDKFZP564O243	Ensembl:ENSG00000243989	euGenes: HUgn95
ECgene: ACY1	Kegg: 95	H-InvDB: ACY1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACY1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ACY1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ACY1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACY1 gene:
Search GeneIP for patents involving ACY1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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