Gene Gene information from NCBI Gene database.
Entrez ID 222236
Gene name N-acyl phosphatidylethanolamine phospholipase D
Gene symbol NAPEPLD
Synonyms (NCBI Gene)
C7orf18FMP30NAPE-PLD
Chromosome 7
Chromosome location 7q22.1
Summary NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by
miRNA miRNA information provided by mirtarbase database.
665
miRTarBase ID miRNA Experiments Reference
MIRT050896 hsa-miR-17-5p CLASH 23622248
MIRT036340 hsa-miR-1229-3p CLASH 23622248
MIRT498842 hsa-miR-1-5p PAR-CLIP 22012620
MIRT498841 hsa-miR-6793-3p PAR-CLIP 22012620
MIRT498840 hsa-miR-7108-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001659 Process Temperature homeostasis IEA
GO:0001659 Process Temperature homeostasis ISS
GO:0004620 Function Phospholipase activity IEA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612334 21683 ENSG00000161048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IQ20
Protein name N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D (N-acyl phosphatidylethanolamine phospholipase D) (NAPE-PLD) (NAPE-hydrolyzing phospholipase D) (EC 3.1.4.54)
Protein function D-type phospholipase that hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce bioactive N-acylethanolamines/fatty acid ethanolamides (NAEs/FAEs) and phosphatidic acid (PubMed:14634025, PubMed:16527816, PubMed:25684574, PubMed:27571266
PDB 4QN9 , 8P90 , 8P96 , 8PC4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12706 Lactamase_B_2 143 344 Beta-lactamase superfamily domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest expression in brain, kidney and testis (at protein level). Expressed in adipose tissue (at protein level). {ECO:0000250|UniProtKB:Q8BH82}.
Sequence
MDENESNQSLMTSSQYPKEAVRKRQNSARNSGASDSSRFSRKSFKLDYRLEEDVTKSKKG
KDGRFVNPWPTWKNPSIPNVLRWLIMEKDHSSVPSSKEELDKELPVLKPYFITNPEEAGV
REAGLRVTWLGHATVMVEMDELIFLTDPIFSSRASPSQYMGPKRFRRSPCTISELPPIDA
VLISHNHYDHLDYNSVIALNERFGNELRWFVPLGLLDWMQKCGCENVIELDWWEENCVPG
HDKVTFVFTPSQHWCKRTLMDDNKVLWGSWSVLGPWNRFFFAGDTGYCPAFEEIGKRFGP
FDLAAIPIGAYEPRWFMKYQHVDPEEAVRIHTDVQTKKSMAIHW
GTFALANEHYLEPPVK
LNEALERYGLNAEDFFVLKHGESRYLNNDDENF
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retrograde endocannabinoid signaling   Biosynthesis of A2E, implicated in retinal degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS 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
Celiac Disease Celiac disease BEFREE 22209002
★☆☆☆☆
Found in Text Mining only
Colitis Colitis Pubtator 22662201 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 36746519 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 25533906
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 22176552 Inhibit
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 25533906
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 21251115 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 20885390 Associate
★☆☆☆☆
Found in Text Mining only