Human Gene APEH (ENST00000296456.10_8) from GENCODE V47lift37
  Description: acylaminoacyl-peptide hydrolase (from RefSeq NM_001640.4)
Gencode Transcript: ENST00000296456.10_8
Gencode Gene: ENSG00000164062.13_14
Transcript (Including UTRs)
   Position: hg19 chr3:49,711,784-49,721,404 Size: 9,621 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr3:49,711,835-49,720,775 Size: 8,941 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:49,711,784-49,721,404)mRNA (may differ from genome)Protein (732 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ACPH_HUMAN
DESCRIPTION: RecName: Full=Acylamino-acid-releasing enzyme; Short=AARE; EC=3.4.19.1; AltName: Full=Acyl-peptide hydrolase; Short=APH; AltName: Full=Acylaminoacyl-peptidase; AltName: Full=Oxidized protein hydrolase; Short=OPH;
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.
CATALYTIC ACTIVITY: Cleavage of an N-acetyl or N-formyl amino acid from the N-terminus of a polypeptide.
SUBUNIT: Homotetramer.
SUBCELLULAR LOCATION: Cytoplasm.
MASS SPECTROMETRY: Mass=81269.9; Mass_error=8.7; Method=Electrospray; Range=1-732; Source=PubMed:10395453;
SIMILARITY: Belongs to the peptidase S9C family.
SEQUENCE CAUTION: Sequence=AAA35769.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: APEH
Diseases sorted by gene-association score: renal cell carcinoma (5), barbiturate dependence (5), uterine disease (1), peliosis hepatis (1), rubeosis iridis (1), cardiomyopathy, familial hypertrophic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.71 RPKM in Pituitary
Total median expression: 1175.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.2051-0.376 Picture PostScript Text
3' UTR -254.20629-0.404 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR002471 - Pept_S9_AS
IPR001375 - Peptidase_S9
IPR004106 - Peptidase_S9A_B_C_N

Pfam Domains:
PF00326 - Prolyl oligopeptidase family
PF00561 - alpha/beta hydrolase fold
PF01738 - Dienelactone hydrolase family
PF12146 - Serine aminopeptidase, S33
PF19283 - Acylamino-acid-releasing enzyme, N-terminal domain

SCOP Domains:
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
82171 - DPP6 N-terminal domain-like
53474 - alpha/beta-Hydrolases

ModBase Predicted Comparative 3D Structure on P13798
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008236 serine-type peptidase activity
GO:0008242 omega peptidase activity
GO:0016787 hydrolase activity
GO:0042802 identical protein binding

Biological Process:
GO:0006415 translational termination
GO:0006508 proteolysis
GO:0043312 neutrophil degranulation
GO:0050435 beta-amyloid metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031965 nuclear membrane
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  BC000362 - Homo sapiens N-acylaminoacyl-peptide hydrolase, mRNA (cDNA clone MGC:8676 IMAGE:2964527), complete cds.
BC001499 - Homo sapiens N-acylaminoacyl-peptide hydrolase, mRNA (cDNA clone MGC:2178 IMAGE:2964527), complete cds.
BC001826 - Homo sapiens N-acylaminoacyl-peptide hydrolase, mRNA (cDNA clone MGC:3894 IMAGE:2964527), complete cds.
LF208625 - JP 2014500723-A/16128: Polycomb-Associated Non-Coding RNAs.
AK314962 - Homo sapiens cDNA, FLJ95877.
D38441 - Homo sapiens mRNA for acylamino acid-releasing enzyme, complete cds.
JD204809 - Sequence 185833 from Patent EP1572962.
E03183 - cDNA sequence encoding human acylamino acid releasing enzyme.
AF141383 - Homo sapiens oxidized protein hydrolase (OPH) mRNA, complete cds.
JD020388 - Sequence 1412 from Patent EP1572962.
CU674176 - Synthetic construct Homo sapiens gateway clone IMAGE:100017473 5' read APEH mRNA.
DQ891418 - Synthetic construct clone IMAGE:100004048; FLH176749.01X; RZPDo839G11122D N-acylaminoacyl-peptide hydrolase (APEH) gene, encodes complete protein.
DQ894592 - Synthetic construct Homo sapiens clone IMAGE:100009052; FLH176747.01L; RZPDo839G11121D N-acylaminoacyl-peptide hydrolase (APEH) gene, encodes complete protein.
KJ896439 - Synthetic construct Homo sapiens clone ccsbBroadEn_05833 APEH gene, encodes complete protein.
J03068 - Human DNF1552 (lung) mRNA, complete cds.
JD020075 - Sequence 1099 from Patent EP1572962.
JD030972 - Sequence 11996 from Patent EP1572962.
LF378493 - JP 2014500723-A/185996: Polycomb-Associated Non-Coding RNAs.
LF378492 - JP 2014500723-A/185995: Polycomb-Associated Non-Coding RNAs.
LF378489 - JP 2014500723-A/185992: Polycomb-Associated Non-Coding RNAs.
LF378488 - JP 2014500723-A/185991: Polycomb-Associated Non-Coding RNAs.
LF378487 - JP 2014500723-A/185990: Polycomb-Associated Non-Coding RNAs.
LF378486 - JP 2014500723-A/185989: Polycomb-Associated Non-Coding RNAs.
JD095498 - Sequence 76522 from Patent EP1572962.
JD452811 - Sequence 433835 from Patent EP1572962.
JD174114 - Sequence 155138 from Patent EP1572962.
DQ786296 - Homo sapiens clone HLS_IMAGE_71432 mRNA sequence.
MA444202 - JP 2018138019-A/16128: Polycomb-Associated Non-Coding RNAs.
MA614070 - JP 2018138019-A/185996: Polycomb-Associated Non-Coding RNAs.
MA614069 - JP 2018138019-A/185995: Polycomb-Associated Non-Coding RNAs.
MA614066 - JP 2018138019-A/185992: Polycomb-Associated Non-Coding RNAs.
MA614065 - JP 2018138019-A/185991: Polycomb-Associated Non-Coding RNAs.
MA614064 - JP 2018138019-A/185990: Polycomb-Associated Non-Coding RNAs.
MA614063 - JP 2018138019-A/185989: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7799 - Arg/N-end rule pathway (eukaryotic)

Reactome (by CSHL, EBI, and GO)

Protein P13798 (Reactome details) participates in the following event(s):

R-HSA-5691512 APEH hydrolyses NAc-Ser-protein
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-6798695 Neutrophil degranulation
R-HSA-72766 Translation
R-HSA-168249 Innate Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ACPH_HUMAN, D3F15S2, D3S48E, DNF15S2, ENST00000296456.1, ENST00000296456.2, ENST00000296456.3, ENST00000296456.4, ENST00000296456.5, ENST00000296456.6, ENST00000296456.7, ENST00000296456.8, ENST00000296456.9, NM_001640, P13798, Q9BQ33, Q9P0Y2, uc317ltu.1, uc317ltu.2
UCSC ID: ENST00000296456.10_8
RefSeq Accession: NM_001640.4
Protein: P13798 (aka ACPH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.