This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gen... See more...

Aliases for APEH Gene

Aliases for APEH Gene

  • Acylaminoacyl-Peptide Hydrolase 2 3 5
  • Acylamino-Acid-Releasing Enzyme 2 3 4
  • Acylaminoacyl-Peptidase 2 3 4
  • N-Acylaminoacyl-Peptide Hydrolase 2 3
  • Oxidized Protein Hydrolase 3 4
  • Acyl-Peptide Hydrolase 3 4
  • EC 3.4.19.1 4 51
  • D3F15S2 3 4
  • DNF15S2 3 4
  • D3S48E 3 4
  • AARE 3 4
  • APH 3 4
  • OPH 3 4
  • ACPH 3
  • APEH 5

External Ids for APEH Gene

Previous HGNC Symbols for APEH Gene

  • D3F15S2
  • DNF15S2
  • D3S48E

Previous GeneCards Identifiers for APEH Gene

  • GC03U990008
  • GC03M048683
  • GC03P049565
  • GC03P049670
  • GC03P049686
  • GC03P049711

Summaries for APEH Gene

Entrez Gene Summary for APEH Gene

  • This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for APEH Gene

APEH (Acylaminoacyl-Peptide Hydrolase) is a Protein Coding gene. Diseases associated with APEH include Placenta Praevia and Kidney Cortex Necrosis. Among its related pathways are Viral mRNA Translation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is DPP6.

UniProtKB/Swiss-Prot Summary for APEH Gene

  • This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser.

Gene Wiki entry for APEH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APEH Gene

Genomics for APEH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APEH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J049673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.0 1006 3.4 SP1 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST ZNF692 POLR2A ZNF7 APEH AMT INKA1 CDHR4 SEMA3B-AS1 RNF123 ENSG00000259970 RF00017-4000
GH03J049670 Enhancer 1 Ensembl ENCODE 600.7 -1.9 -1903 1.6 GATAD2A CTCF REST TFE3 NFKBIZ FOXA1 PRDM1 ZNF143 RXRB RAD21 APEH AMT BSN-AS1 BSN BSN-DT CDHR4 UBA7 MST1 lnc-MST1-2 RF00017-4000
GH03J049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -327.3 -327301 16 RNF2 SP1 HNRNPL GATAD2A CTCF PRDM10 TFE3 LEF1 IKZF1 POLR2A USP4 lnc-TCTA-3 AMT WDR6 QRICH1 RBM6 ENSG00000235236 DALRD3 RHOA NICN1
GH03J049553 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.7 -118.8 -118766 2.1 CEBPG CREB1 ATF7 REST ZNF629 RFX1 PRDM1 ZNF143 PHF21A ZIC2 BSN BSN-DT APEH piR-48852 DAG1 RF00017-4000
GH03J049685 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.9 +15.4 15376 5.4 SP1 GATAD2A PRDM10 ZNF629 TFE3 LEF1 NFKBIZ ZNF692 BACH1 LARP7 MST1 RNF123 lnc-MST1-1 piR-46140 AMT RBM6 QRICH1 CDHR4 AMIGO3 GMPPB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APEH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APEH

Top Transcription factor binding sites by QIAGEN in the APEH gene promoter:
  • c-Myc
  • CUTL1
  • FOXI1
  • LCR-F1
  • Max
  • SEF-1 (1)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for APEH Gene

Genomic Locations for APEH Gene
chr3:49,673,102-49,683,971
(GRCh38/hg38)
Size:
10,870 bases
Orientation:
Plus strand
chr3:49,711,435-49,721,396
(GRCh37/hg19)
Size:
9,962 bases
Orientation:
Plus strand

Genomic View for APEH Gene

Genes around APEH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APEH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APEH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APEH Gene

Proteins for APEH Gene

  • Protein details for APEH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13798-ACPH_HUMAN
    Recommended name:
    Acylamino-acid-releasing enzyme
    Protein Accession:
    P13798
    Secondary Accessions:
    • Q9BQ33
    • Q9P0Y2

    Protein attributes for APEH Gene

    Size:
    732 amino acids
    Molecular mass:
    81225 Da
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA35769.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for APEH Gene

Selected DME Specific Peptides for APEH Gene

P13798:
  • SPRLSPDQCR
  • GGKCELLSD
  • QVLQEEHFDA
  • YRTVHTEWTQRDL
  • LLVNYRGSTGFGQDSILSLPGNVG
  • EEKQFLEVWEKNRKLKSFNLSALEKHGPVYEDDCFGCLSW
  • SCHLIGQYPETY
  • EAAALYRGLSRQP
  • LKVGFLP
  • VPRQLGE
  • RMENIRFCRQYLVFHDGDSVVFAGPAGNSVET
  • KKPDQAIKGDQF
  • QRSRQDLFAVDTQ
  • GSWKLLTID
  • PAMLCKMGFA
  • CTNRRSALYYVDL
  • FSGIYCSLLPLGCWSADSQRVVFD
  • LSAACLGPEVTTQYGG

Post-translational modifications for APEH Gene

  • Ubiquitination at Lys131, Lys180, Lys291, Lys443, Lys664, Lys681, and Lys704
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for APEH
  • Boster Bio Antibodies for APEH

Domains & Families for APEH Gene

Gene Families for APEH Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for APEH Gene

InterPro:
Blocks:
  • Prolyl endopeptidase, serine active site
ProtoNet:

Suggested Antigen Peptide Sequences for APEH Gene

GenScript: Design optimal peptide antigens:
  • Oxidized protein hydrolase (ACPH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13798

UniProtKB/Swiss-Prot:

ACPH_HUMAN :
  • Belongs to the peptidase S9C family.
Family:
  • Belongs to the peptidase S9C family.
genes like me logo Genes that share domains with APEH: view

Function for APEH Gene

Molecular function for APEH Gene

UniProtKB/Swiss-Prot Function:
This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide.; EC=3.4.19.1;.
GENATLAS Biochemistry:
N-acylaminoacyl-peptide hydrolase,with reduced expression in renal cell carcinoma (see D3F15S2,D3S94,TSG3C),highly homolog to the tightly linked MST1 gene

Enzyme Numbers (IUBMB) for APEH Gene

Phenotypes From GWAS Catalog for APEH Gene

Gene Ontology (GO) - Molecular Function for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004252 serine-type endopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 16189514
GO:0008236 serine-type peptidase activity IEA --
GO:0008242 omega peptidase activity IDA 17241160
genes like me logo Genes that share ontologies with APEH: view
genes like me logo Genes that share phenotypes with APEH: view

Animal Models for APEH Gene

MGI Knock Outs for APEH:
  • Apeh Apeh<tm2b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for APEH

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APEH

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APEH Gene

Localization for APEH Gene

Subcellular locations from UniProtKB/Swiss-Prot for APEH Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APEH gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0031965 nuclear membrane IDA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with APEH: view

Pathways & Interactions for APEH Gene

genes like me logo Genes that share pathways with APEH: view

Pathways by source for APEH Gene

Gene Ontology (GO) - Biological Process for APEH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006415 translational termination TAS --
GO:0006508 proteolysis IEA,IDA 17241160
GO:0043312 neutrophil degranulation TAS --
GO:0050435 amyloid-beta metabolic process IDA 17241160
genes like me logo Genes that share ontologies with APEH: view

No data available for SIGNOR curated interactions for APEH Gene

Drugs & Compounds for APEH Gene

(9) Drugs for APEH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for APEH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APEH: view

Transcripts for APEH Gene

mRNA/cDNA for APEH Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APEH

Alternative Splicing Database (ASD) splice patterns (SP) for APEH Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
SP1: - -
SP2: - - - -
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9: - - - -

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for APEH Gene

GeneLoc Exon Structure for
APEH

Expression for APEH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APEH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APEH Gene

This gene is overexpressed in Lymph node (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APEH Gene



Protein tissue co-expression partners for APEH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APEH

SOURCE GeneReport for Unigene cluster for APEH Gene:

Hs.517969

Evidence on tissue expression from TISSUES for APEH Gene

  • Liver(4.6)
  • Muscle(4.6)
  • Nervous system(4.2)
  • Skin(4)
  • Intestine(3.8)
  • Blood(3)
  • Kidney(3)
  • Heart(2.8)
  • Lung(2.8)
  • Eye(2.7)
  • Thyroid gland(2.7)
  • Stomach(2.6)
  • Spleen(2.6)
  • Lymph node(2.4)
  • Bone marrow(2.3)
  • Adrenal gland(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with APEH: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for APEH Gene

Orthologs for APEH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APEH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APEH 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APEH 30 31
  • 91.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APEH 30 31
  • 90.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Apeh 30 17 31
  • 89.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apeh 30
  • 88.93 (n)
Oppossum
(Monodelphis domestica)
Mammalia APEH 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APEH 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APEH 30 31
  • 70.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APEH 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apeh 30
  • 64.77 (n)
Str.7036 30
Zebrafish
(Danio rerio)
Actinopterygii CABZ01074181.1 31
  • 62 (a)
OneToMany
APEH (3 of 4) 31
  • 62 (a)
OneToMany
apeh 30 31
  • 61.92 (n)
OneToMany
APEH (2 of 4) 31
  • 49 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dpf-5 30 31
  • 45.87 (n)
OneToMany
R11E3.8 32
  • 33 (a)
dpf-4 31
  • 18 (a)
OneToMany
dpf-6 31
  • 15 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G14570 30
  • 45.25 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0415800 30
  • 44.68 (n)
Species where no ortholog for APEH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for APEH Gene

ENSEMBL:
Gene Tree for APEH (if available)
TreeFam:
Gene Tree for APEH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APEH: view image

Paralogs for APEH Gene

Paralogs for APEH Gene

genes like me logo Genes that share paralogs with APEH: view

Variants for APEH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APEH Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs3816877 - p.Thr541Met

Additional dbSNP identifiers (rs#s) for APEH Gene

Structural Variations from Database of Genomic Variants (DGV) for APEH Gene

Variant ID Type Subtype PubMed ID
esv28815 CNV gain+loss 19812545
nsv1141429 CNV duplication 24896259
nsv1148681 CNV duplication 26484159
nsv508217 CNV deletion 20534489
nsv820990 CNV duplication 20802225

Variation tolerance for APEH Gene

Residual Variation Intolerance Score: 9.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APEH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APEH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APEH Gene

Disorders for APEH Gene

MalaCards: The human disease database

(11) MalaCards diseases for APEH Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search APEH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APEH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APEH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APEH Gene

Publications for APEH Gene

  1. Identification of oxidized protein hydrolase of human erythrocytes as acylpeptide hydrolase. (PMID: 10719179) Fujino T … Yasuda H (Biochimica et biophysica acta 2000) 3 4 23
  2. The nucleotide sequence of human acylamino acid-releasing enzyme. (PMID: 8724851) Mitta M … Tsunasawa S (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 3 4 23
  3. Crystallization and preliminary X-ray studies of human erythrocyte acylpeptide hydrolase. (PMID: 8411161) Feese M … Remington SJ (Journal of molecular biology 1993) 3 4 23
  4. Acylpeptide hydrolase: inhibitors and some active site residues of the human enzyme. (PMID: 1740429) Scaloni A … Manning JM (The Journal of biological chemistry 1992) 3 4 23
  5. Genetic relationship between acylpeptide hydrolase and acylase, two hydrolytic enzymes with similar binding but different catalytic specificities. (PMID: 2006156) Jones WM … Manning JM (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 23

Products for APEH Gene

Sources for APEH Gene