Enpep glutamyl aminopeptidase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Enpepprovided by MGI
Official Full Name: glutamyl aminopeptidaseprovided by MGI
Primary source: MGI:MGI:106645
See related: Ensembl:ENSMUSG00000028024 AllianceGenome:MGI:106645
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: APA; Ly51; Ly-51; Bp-1/6C3; 6030431M22Rik
Summary: Enables peptidase activity. Involved in glomerulus development. Acts upstream of or within angiogenesis. Located in several cellular components, including apical plasma membrane; brush border; and external side of plasma membrane. Is expressed in several structures, including cochlea; genitourinary system; gut; physiological umbilical hernia; and thymus epithelium. Orthologous to human ENPEP (glutamyl aminopeptidase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in large intestine adult (RPKM 77.9), subcutaneous fat pad adult (RPKM 16.1) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 57.92 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (129062826..129126398, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (129269177..129332749, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aminopeptidase A contributes to biochemical, anatomical and cognitive defects in Alzheimer's disease (AD) mouse model and is increased at early stage in sporadic AD brain.
Title: Aminopeptidase A contributes to biochemical, anatomical and cognitive defects in Alzheimer's disease (AD) mouse model and is increased at early stage in sporadic AD brain.
Knockout of aminopeptidase A in mice causes functional alterations and morphological glomerular basement membrane changes in the kidneys.
Title: Knockout of aminopeptidase A in mice causes functional alterations and morphological glomerular basement membrane changes in the kidneys.
de-regulation of both PITX2 and ENPEP could contribute to an increased risk of atrial fibrillation in carriers of disease-associated variants.
Title: Long-range regulatory interactions at the 4q25 atrial fibrillation risk locus involve PITX2c and ENPEP.
Demonstrate a novel role of APA in ANG-(1-7) metabolism and suggest that the upregulation of APA, which occurs after myocardial infarction, may deprive the heart of cardioprotective ANG-(1-7).
Title: Novel role of aminopeptidase-A in angiotensin-(1-7) metabolism post myocardial infarction.
Ischemia-induced angiogenesis is impaired in APA-KO mice partly through decreased HIF-1alpha stability by proteasomal degradation and subsequent suppression of HIF-1alpha-driven target protein expression such as growth factors.
Title: Ischemia-induced angiogenesis is impaired in aminopeptidase A deficient mice via down-regulation of HIF-1α.
Results demonstrate a key role of Thr-348 in substrate specificity of aminopeptidase A for N-terminal acidic amino acids by insuring the optimal positioning of the substrate during catalysis.
Title: Identification of threonine 348 as a residue involved in aminopeptidase A substrate specificity.
aminopeptidase A has a role in angiotensin II conversion to angiotensin III and in water but not alcohol consumption
Title: Lack of angiotensin II conversion to angiotensin III increases water but not alcohol consumption in aminopeptidase A-deficient mice.
Replacement of active site residue glutamate-215 of aminopeptidase A with aspartate or alanine leads to a strong decrease in the rate of hydrolysis of the synthetic substrate alpha-L-glutamyl-beta-naphthylamide.
Title: Contribution of molecular modeling and site-directed mutagenesis to the identification of a new residue, glutamate 215, involved in the exopeptidase specificity of aminopeptidase A.
the C-terminal domain of aminopeptidase A acts as an intramolecular chaperone
Title: The C-terminal domain of aminopeptidase A is an intramolecular chaperone required for the correct folding, cell surface expression, and activity of this monozinc aminopeptidase.
dietary fatty acids affect activity in moue testis
Title: Dietary fatty acid composition affects aminopeptidase activities in the testes of mice.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminopeptidase activity	ISO Inferred from Sequence Orthology more info
enables aminopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloaminopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metalloaminopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell migration	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus development	IEP Inferred from Expression Pattern more info	PubMed
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of systemic arterial blood pressure by renin-angiotensin	ISO Inferred from Sequence Orthology more info
involved_in regulation of systemic arterial blood pressure by renin-angiotensin	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within vascular endothelial cell proliferation	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: glutamyl aminopeptidase

Names: AP-A; BP-1/6C3 antigen; EAP; aminopeptidase A

NP_031960.1

EC 3.4.11.7

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_007934.3 → NP_031960.1 glutamyl aminopeptidase

See identical proteins and their annotated locations for NP_031960.1

Status: VALIDATED

Source sequence(s)

AK031439, AK146808, BC064061, BY311350

Consensus CDS

CCDS17831.1

UniProtKB/Swiss-Prot

P16406

UniProtKB/TrEMBL

Q52JJ6

Related

ENSMUSP00000029658.8, ENSMUST00000029658.14

Conserved Domains (3) summary

cd09601
Location:92 → 537

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:84 → 474

Peptidase_M1; Peptidase family M1

pfam11838
Location:608 → 922

ERAP1_C; ERAP1-like C-terminal domain