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Aliases for APEH Gene

Aliases for APEH Gene

  • Acylaminoacyl-Peptide Hydrolase 2 3 5
  • Acylaminoacyl-Peptidase 2 3 4
  • N-Acylaminoacyl-Peptide Hydrolase 2 3
  • Acylamino-Acid-Releasing Enzyme 2 3
  • Oxidized Protein Hydrolase 3 4
  • Acyl-Peptide Hydrolase 3 4
  • EC 3.4.19.1 4 56
  • D3F15S2 3 4
  • DNF15S2 3 4
  • D3S48E 3 4
  • AARE 3 4
  • APH 3 4
  • OPH 3 4
  • ACPH 3

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 Barbiturate Dependence and Uterine Anomalies. Among its related pathways are Innate Immune System and Gene Expression. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity.

UniProtKB/Swiss-Prot 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

Additional gene information for APEH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APEH Gene

Genomics for APEH Gene

GeneHancer (GH) Regulatory Elements for APEH Gene

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
GH03I049673 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.3 1308 2.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B APEH FAM212A CDHR4 SEMA3B-AS1 ENSG00000259970 GC03P049421
GH03I049670 Enhancer 1.1 Ensembl ENCODE 550.8 -1.6 -1609 1.8 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 RUNX3 RXRA APEH AMT BSN-AS1 BSN BSN-AS2 CDHR4 UBA7 MST1 PIR32155 GC03P049421
GH03I049338 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -327.1 -327080 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A USP4 AMT QRICH1 ENSG00000235236 RBM6 ATRIP RBM5 WDR6 IP6K2 ENSG00000230454
GH03I049553 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 11.7 -119.0 -118994 1.7 HDGF PKNOX1 ATF1 MLX ARNT ARID4B SIN3A DMAP1 YBX1 ZNF143 BSN BSN-AS2 APEH PIR41851 GC03P049421
GH03I049409 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 7.3 -259.3 -259323 8.9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 TCTA RHOA AMT CCDC71 WDR6 SEMA3F-AS1 QRICH1 FAM212A RBM5 DAG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APEH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APEH gene promoter:

Genomic Locations for APEH Gene

Genomic Locations for APEH Gene
chr3:49,673,130-49,683,963
(GRCh38/hg38)
Size:
10,834 bases
Orientation:
Plus strand
chr3:49,711,435-49,721,396
(GRCh37/hg19)

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; Positions=Several; 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 posLast=131131, posLast=180180, Lys291, posLast=443443, posLast=664664, posLast=681681, and posLast=704704
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for APEH Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide.
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.

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 Model Products

  • Taconic Biosciences Mouse Models for APEH

Clone Products

No data available for Human Phenotype Ontology , Animal Models , 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
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
lysosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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 IDA,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 IDA,IEA 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

(6) Drugs for APEH Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) 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

Unigene Clusters for APEH Gene

N-acylaminoacyl-peptide hydrolase:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
APEH

Expression for APEH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for APEH Gene



Protein tissue co-expression partners for APEH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APEH Gene:

APEH

SOURCE GeneReport for Unigene cluster for APEH Gene:

Hs.517969

Evidence on tissue expression from TISSUES for APEH Gene

  • Liver(4.5)
  • Muscle(4.5)
  • Nervous system(4)
  • Intestine(3.5)
  • Skin(3.4)
  • Blood(2.6)
  • Kidney(2.6)
  • Heart(2.4)
  • Lung(2.4)
  • Spleen(2.3)
  • Lymph node(2)
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 34 33
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APEH 34 33
  • 91.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APEH 33 34
  • 90.49 (n)
mouse
(Mus musculus)
Mammalia Apeh 33 16 34
  • 89.16 (n)
rat
(Rattus norvegicus)
Mammalia Apeh 33
  • 88.93 (n)
oppossum
(Monodelphis domestica)
Mammalia APEH 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APEH 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves APEH 33 34
  • 70.33 (n)
lizard
(Anolis carolinensis)
Reptilia APEH 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apeh 33
  • 64.77 (n)
Str.7036 33
zebrafish
(Danio rerio)
Actinopterygii APEH (3 of 4) 34
  • 62 (a)
OneToMany
CABZ01074181.1 34
  • 62 (a)
OneToMany
apeh 33 34
  • 61.92 (n)
APEH (2 of 4) 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpf-5 34 33
  • 45.87 (n)
OneToMany
R11E3.8 35
  • 33 (a)
dpf-4 34
  • 18 (a)
OneToMany
dpf-6 34
  • 15 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14570 33
  • 45.25 (n)
rice
(Oryza sativa)
Liliopsida Os10g0415800 33
  • 44.68 (n)
Species where no ortholog for APEH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for APEH Gene

No data available for Paralogs for APEH Gene

Variants for APEH Gene

Sequence variations from dbSNP and Humsavar for APEH Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000307460 -- 49,678,099(+) G/A intron_variant
rs1001094509 -- 49,683,031(+) A/G intron_variant
rs1001278303 -- 49,677,084(+) G/C intron_variant
rs1002232678 -- 49,679,485(+) G/T intron_variant
rs1002238025 -- 49,675,495(+) C/T intron_variant

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

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

Disorder Aliases PubMed IDs
barbiturate dependence
uterine anomalies
  • uterine disease
peliosis hepatis
  • hepatic peliosis
rubeosis iridis
- 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
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 22 58
  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 22 58
  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 22 58
  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 22 58
  5. The gene from the short arm of chromosome 3, at D3F15S2, frequently deleted in renal cell carcinoma, encodes acylpeptide hydrolase. (PMID: 1861871) Erlandsson R … Jörnvall H (Oncogene 1991) 3 4 22 58

Products for APEH Gene

Sources for APEH Gene

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