Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 4012
Gene name Leucyl and cystinyl aminopeptidase
Gene symbol LNPEP
Synonyms (NCBI Gene)
CAPIRAPP-LAPPLAP
Chromosome 5
Chromosome location 5q15
Summary This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-
miRNA miRNA information provided by mirtarbase database.
319 Show/Hide all (319)
miRTarBase ID miRNA Experiments Reference
MIRT023791 hsa-miR-1-3p Proteomics 18668040
MIRT044123 hsa-miR-30e-3p CLASH 23622248
MIRT044081 hsa-miR-361-5p CLASH 23622248
MIRT040837 hsa-miR-18a-3p CLASH 23622248
MIRT037514 hsa-miR-744-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TFAP2A Activation 15894523
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38 Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I IEA
GO:0002480 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
GO:0004177 Function Aminopeptidase activity EXP 9668046, 11062501, 19498108, 19918052
GO:0004177 Function Aminopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151300 6656 ENSG00000113441
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIQ6
Protein name Leucyl-cystinyl aminopeptidase (Cystinyl aminopeptidase) (EC 3.4.11.3) (Insulin-regulated membrane aminopeptidase) (Insulin-responsive aminopeptidase) (IRAP) (Oxytocinase) (OTase) (Placental leucine aminopeptidase) (P-LAP) [Cleaved into: Leucyl-cystinyl a
Protein function Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be
PDB 4P8Q , 4PJ6 , 4Z7I , 5C97 , 5JHQ , 5MJ6 , 7ZYF , 8CGP , 8CGW , 8P0I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01433 Peptidase_M1 392 → 610 Peptidase family M1 domain Domain
PF11838 ERAP1_C 689 → 1009 ERAP1-like C-terminal domain Domain
PF17900 Peptidase_M1_N 173 → 358 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, heart, kidney and small intestine. Detected at lower levels in neuronal cells in the brain, in skeletal muscle, spleen, liver, testes and colon. {ECO:0000269|PubMed:11389728, ECO:0000269|PubMed:8550619, EC
Sequence
Sequence length 1025
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Renin-angiotensin system Endosomal/Vacuolar pathway
  Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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.
Show/Hide Unknown Diseases (8)
Phenotype Name Clinical Significance Source Reference Evidence Score
BIRDSHOT CHORIORETINOPATHY — GWAS catalog 24957906
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 35915156
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS — GWAS catalog 37337107
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS — CTD, Disgenet
CTD, Disgenet
11730987
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS — GWAS catalog 23603761
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (110)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute fatty liver of pregnancy Fatty Liver BEFREE 20953066
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 29456727
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15907336
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 15907336
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 10571045
★★★★★
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 11730987
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 28477791
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27834335 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 21348480
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26923013
★★★★★
★☆☆☆☆
Found in Text Mining only