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ENPEP glutamyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 2028, updated on 8-Jul-2021

Summary

Official Symbol
ENPEPprovided by HGNC
Official Full Name
glutamyl aminopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:3355
See related
Ensembl:ENSG00000138792 MIM:138297
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
APA; CD249; gp160
Summary
The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020]
Expression
Biased expression in small intestine (RPKM 132.9), kidney (RPKM 71.6) and 5 other tissues See more
Orthologs
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Genomic context

See ENPEP in Genome Data Viewer
Location:
4q25
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (110476155..110565285)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (111397311..111486441)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 like 1 pseudogene 13 Neighboring gene zinc finger protein 969, pseudogene Neighboring gene uncharacterized LOC105377363 Neighboring gene PITX2 adjacent non-coding RNA Neighboring gene paired like homeodomain 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
GeneReviews: Not available
Variants conferring risk of atrial fibrillation on chromosome 4q25.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metalloaminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metalloaminopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in angiotensin maturation NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cell migration IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell-cell signaling NAS
Non-traceable Author Statement
more info
PubMed 
involved_in glomerulus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of blood pressure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of systemic arterial blood pressure by renin-angiotensin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of systemic arterial blood pressure by renin-angiotensin NAS
Non-traceable Author Statement
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical part of cell ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in brush border ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in lysosomal membrane HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
glutamyl aminopeptidase
Names
AP-A
EAP
aminopeptidase A
differentiation antigen gp160
NP_001366540.1
NP_001366541.1
NP_001366542.1
NP_001968.3
XP_016863366.1

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)

  1. NM_001379611.1NP_001366540.1  glutamyl aminopeptidase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC017068, AC098798
    Conserved Domains (2) summary
    cd09601
    Location:100540
    M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)
    pfam11838
    Location:616908
    ERAP1_C; ERAP1-like C-terminal domain
  2. NM_001379612.1NP_001366541.1  glutamyl aminopeptidase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC017068, AC098798
    Conserved Domains (2) summary
    cd09601
    Location:100540
    M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)
    pfam11838
    Location:616880
    ERAP1_C; ERAP1-like C-terminal domain
  3. NM_001379613.1NP_001366542.1  glutamyl aminopeptidase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC017068, AC098798
    Conserved Domains (2) summary
    cd09601
    Location:100540
    M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)
    pfam11838
    Location:616859
    ERAP1_C; ERAP1-like C-terminal domain
  4. NM_001977.4NP_001968.3  glutamyl aminopeptidase isoform 1

    See identical proteins and their annotated locations for NP_001968.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC017068, AC098798, AI640493, AL568777, BC094770, BG400415
    Consensus CDS
    CCDS3691.1
    UniProtKB/Swiss-Prot
    Q07075
    Related
    ENSP00000265162.5, ENST00000265162.10
    Conserved Domains (3) summary
    cd09601
    Location:100545
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam01433
    Location:92482
    Peptidase_M1; Peptidase family M1
    pfam11838
    Location:617931
    ERAP1_C; ERAP1-like C-terminal domain

RNA

  1. NR_166842.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC017068, AC098798
  2. NR_166844.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC017068, AC098798

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    110476155..110565285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007877.1XP_016863366.1  glutamyl aminopeptidase isoform X1

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