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ENPEP glutamyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 2028, updated on 12-Aug-2018

Summary

Official Symbol
ENPEPprovided by HGNC
Official Full Name
glutamyl aminopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:3355
See related
Ensembl:ENSG00000138792 MIM:138297; Vega:OTTHUMG00000132546
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APA; CD249; gp160
Expression
Biased expression in small intestine (RPKM 132.9), kidney (RPKM 71.6) and 5 other tissues See more
Orthologs

Genomic context

See ENPEP in Genome Data Viewer
Location:
4q25
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (110476073..110563337)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (111397229..111484493)

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
Variants conferring risk of atrial fibrillation on chromosome 4q25.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystem (from REACTOME)
    Metabolism of Angiotensinogen to Angiotensins, organism-specific biosystemAngiotensinogen, a prohormone, is synthesized and secreted mainly by the liver but also from other tissues (reviewed in Fyhrquist and Saijonmaa 2008, Cat and Touyz 2011). Renin, an aspartyl protease ...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Renin-angiotensin system, organism-specific biosystem (from KEGG)
    Renin-angiotensin system, organism-specific biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
  • Renin-angiotensin system, conserved biosystem (from KEGG)
    Renin-angiotensin system, conserved biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloaminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloaminopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
metallopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
angiotensin maturation NAS
Non-traceable Author Statement
more info
PubMed 
angiotensin maturation TAS
Traceable Author Statement
more info
 
cell migration IDA
Inferred from Direct Assay
more info
PubMed 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell signaling NAS
Non-traceable Author Statement
more info
PubMed 
glomerulus development ISS
Inferred from Sequence or Structural Similarity
more info
 
peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of systemic arterial blood pressure by renin-angiotensin IDA
Inferred from Direct Assay
more info
PubMed 
regulation of systemic arterial blood pressure by renin-angiotensin NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical part of cell ISS
Inferred from Sequence or Structural Similarity
more info
 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
brush border ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosomal membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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_001968.3
XP_016863366.1

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.

mRNA and Protein(s)

  1. NM_001977.3NP_001968.3  glutamyl aminopeptidase

    See identical proteins and their annotated locations for NP_001968.3

    Status: VALIDATED

    Source sequence(s)
    AC098798, AI640493, AL568777, BC094770, BG400415, DB070526
    Consensus CDS
    CCDS3691.1
    UniProtKB/Swiss-Prot
    Q07075
    Related
    ENSP00000265162.5, OTTHUMP00000163369, ENST00000265162.9, OTTHUMT00000255747
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    110476073..110563337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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