Gene Gene information from NCBI Gene database.
Entrez ID 2028
Gene name Glutamyl aminopeptidase
Gene symbol ENPEP
Synonyms (NCBI Gene)
APACD249gp160
Chromosome 4
Chromosome location 4q25
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 vess
miRNA miRNA information provided by mirtarbase database.
59
miRTarBase ID miRNA Experiments Reference
MIRT044621 hsa-miR-320a CLASH 23622248
MIRT437377 hsa-miR-125b-5p Luciferase reporter assayWestern blot 24098452
MIRT437377 hsa-miR-125b-5p Luciferase reporter assayWestern blot 24098452
MIRT963886 hsa-miR-129-5p CLIP-seq
MIRT963887 hsa-miR-1297 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis ISS
GO:0002003 Process Angiotensin maturation IBA
GO:0002003 Process Angiotensin maturation IEA
GO:0002003 Process Angiotensin maturation NAS 19608358
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138297 3355 ENSG00000138792
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07075
Protein name Glutamyl aminopeptidase (EAP) (EC 3.4.11.7) (Aminopeptidase A) (AP-A) (Differentiation antigen gp160) (CD antigen CD249)
Protein function Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II.
PDB 4KX7 , 4KX8 , 4KX9 , 4KXA , 4KXB , 4KXC , 4KXD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17900 Peptidase_M1_N 98 286 Domain
PF01433 Peptidase_M1 321 538 Peptidase family M1 domain Domain
PF11838 ERAP1_C 616 934 ERAP1-like C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in choriocarcinoma cancer cell lines (at protein level) (PubMed:10692253). Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues. {ECO:0000269|P
Sequence
MNFAEREGSKRYCIQTKHVAILCAVVVGVGLIVGLAVGLTRSCDSSGDGGPGTAPAPSHL
PSSTASPSGPPAQDQDICPASEDESGQWKNFRLPDFVNPVHYDLHVKPLLEEDTYTGTVS
ISINLSAPTRYLWLHLRETRITRLPELKRPSGDQVQVRRCFEYKKQEYVVVEAEEELTPS
SGDGLYLLTMEFAGWLNGSLVGFYRTTYTENGQVKSIVATDHEPTDARKSFPCFDEPNKK
ATYTISITHPKEYGALSNMPVAKEESVDDKWTRTTFEKSVPMSTYL
VCFAVHQFDSVKRI
SNSGKPLTIYVQPEQKHTAEYAANITKSVFDYFEEYFAMNYSLPKLDKIAIPDFGTGAME
NWGLITYRETNLLYDPKESASSNQQRVATVVAHELVHQWFGNIVTMDWWEDLWLNEGFAS
FFEFLGVNHAETDWQMRDQMLLEDVLPVQEDDSLMSSHPIIVTVTTPDEITSVFDGISYS
KGSSILRMLEDWIKPENFQKGCQMYLEKYQFKNAKTSDFWAALEEASRLPVKEVMDTW
TR
QMGYPVLNVNGVKNITQKRFLLDPRANPSQPPSDLGYTWNIPVKWTEDNITSSVLFNRSE
KEGITLNSSNPSGNAFLKINPDHIGFYRVNYEVATWDSIATALSLNHKTFSSADRASLID
DAFALARAQLLDYKVALNLTKYLKREENFLPWQRVISAVTYIISMFEDDKELYPMIEEYF
QGQVKPIADSLGWNDAGDHVTKLLRSSVLGFACKMGDREALNNASSLFEQWLNGTVSLPV
NLRLLVYRYGMQNSGNEISWNYTLEQYQKTSLAQEKEKLLYGLASVKNVTLLSRYLDLLK
DTNLIKTQDVFTVIRYISYNSYGKNMAWNWIQLNWDYLVNRYTLNNRNLGRIVTIAEPFN
TELQLWQMESFFAKYPQAGAGEKPREQVLETVKN
NIEWLKQHRNTIREWFFNLLESG
Sequence length 957
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Renin-angiotensin system   Metabolism of Angiotensinogen to Angiotensins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 31124944
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11380493, 24242700, 24758183, 9140790
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 28332880
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 24242700, 28332880
★☆☆☆☆
Found in Text Mining only
AL-RAQAD SYNDROME AL-Raqad Syndrome BEFREE 29100920
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30873069
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30873069
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 31751311
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 36012391 Stimulate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30370863
★☆☆☆☆
Found in Text Mining only