APEH N-acylaminoacyl-peptide hydrolase [Homo sapiens] - Gene

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Summary

Official Symbol: APEHprovided by HGNC
Official Full Name: N-acylaminoacyl-peptide hydrolaseprovided by HGNC
Primary source: HGNC:586
See related: Ensembl:ENSG00000164062; HPRD:00034; MIM:102645; Vega:OTTHUMG00000156882
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APH; OPH; AARE; ACPH; D3S48E; D3F15S2; DNF15S2; MGC2178
Summary: 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]

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Genomic context

Location :: 3p21.31

Sequence :: Chromosome: 3; NC_000003.11 (49711435..49720934)

See APEH in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Studies indicate that the cylindromatosis/turban tumor syndrome gene (CYLD) ranked highest, followed by acylaminoacyl-peptidase (APEH), dystroglycan (DAG1), macrophage-stimulating protein (MST1) and ubiquitin-specific peptidase 4 (USP4).
Title: Genetic evidence supporting the association of protease and protease inhibitor genes with inflammatory bowel disease: a systematic review.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

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Products	Interactant	Other Gene	Source	Pubs	Description
P13798	P13798	APEH	HPRD	PubMed
P13798	P53990	IST1	HPRD	PubMed
P13798	P04278	SHBG	HPRD	PubMed
P13798	Q0P6H9	TMEM62	HPRD	PubMed
P13798	Q9GZZ9	UBA5	HPRD	PubMed
BioGRID:106824	BioGRID:106824	APEH	BioGRID	PubMed	Two-hybrid
BioGRID:106824	BioGRID:115141	IST1	BioGRID	PubMed	Two-hybrid
BioGRID:106824	BioGRID:122964	UBA5	BioGRID	PubMed	Two-hybrid
BioGRID:106824	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
hydrolase activity	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nuclear membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: acylamino-acid-releasing enzyme

Names: acylamino-acid-releasing enzyme; acyl-peptide hydrolase; acylaminoacyl-peptidase; oxidized protein hydrolase

NP_001631.3

EC 3.4.19.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011438.1 RefSeqGene

Range

5001..14500

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001640.3 → NP_001631.3 acylamino-acid-releasing enzyme

Status: REVIEWED

Source sequence(s)

BC001499

Consensus CDS

CCDS2801.1

UniProtKB/Swiss-Prot

P13798

Related

ENSP00000296456, OTTHUMP00000210907, ENST00000296456, OTTHUMT00000346415

Conserved Domains (2) summary

COG1506
Location:157 – 732
Blast Score: 501

DAP2; Dipeptidyl aminopeptidases/acylaminoacyl-peptidases [Amino acid transport and metabolism]

cl12031
Location:510 – 707
Blast Score: 288

Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

49711435..49720934

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

49770415..49779914

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC099668.2 (52771..62270)	None
genomic	CH471055.1	EAW64994.1
		EAW64995.1
		EAW64996.1
		EAW64997.1
		EAW64998.1
mRNA	AF141383.1	AAF37321.1
mRNA	AK314962.1	None
mRNA	BC000362.2	AAH00362.1
mRNA	BC001499.2	AAH01499.1
mRNA	BC001826.2	AAH01826.1
mRNA	D38441.1	BAA07476.1
other-genetic	DQ891418.2	ABM82344.1
other-genetic	DQ894592.2	ABM85518.1