PM20D1 (peptidase M20 domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 148811
Gene name Peptidase M20 domain containing 1
Gene symbol PM20D1
Synonyms (NCBI Gene)
Cps1
Chromosome 1
Chromosome location 1q32.1
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT1244018 hsa-miR-371-5p CLIP-seq
MIRT1244019 hsa-miR-371b-5p CLIP-seq
MIRT1244020 hsa-miR-4307 CLIP-seq
MIRT1244021 hsa-miR-4762-5p CLIP-seq
MIRT1244022 hsa-miR-513c CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
GO ID Ontology Definition Evidence Reference
GO:0004046 Function Aminoacylase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IEA
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617124 26518 ENSG00000162877
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6GTS8
Protein name N-fatty-acyl-amino acid synthase/hydrolase PM20D1 (EC 3.5.1.114) (EC 3.5.1.14) (Peptidase M20 domain-containing protein 1)
Protein function Secreted enzyme that regulates the endogenous N-fatty acyl amino acid (NAAs) tissue and circulating levels by functioning as a bidirectional NAA synthase/hydrolase (PubMed:27374330). It condenses free fatty acids and free amino acids to generate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01546 Peptidase_M20 121 → 488 Peptidase family M20/M25/M40 Family
PF07687 M20_dimer 239 → 389 Peptidase dimerisation domain Domain
Sequence 
MAQRCVCVLALVAMLLLVFPTVSRSMGPRSGEHQRASRIPSQFSKEERVAMKEALKGAIQ
IPTVTFSSEKSNTTALAEFGKYIHKVFPTVVSTSFIQHEVVEEYSHLFTIQGSDPSLQPY
LLMAHFDVVPAPEEGWEVPPFSGLERDGIIYGRGTLDDKNSVMALLQALELLLIRKYIPR
RSFFISLGHDEESSGTGAQRISALLQSRGVQLAFIVDEGGFILDDFIPNFKKPIALIAVS
EKGSMNLMLQVNMTSGHSSAPPKETSIGILAAAVSRLEQTPMPIIFGSGTVVTVLQQLAN
EFPFPVNIILSNPWLFEPLISRFMERNPLTNAIIRTTTALTIFKAGVKFNVIPPVAQATV
NFRIHPGQTVQEVLELTKNIVADNRVQFHVLSAFDPLPVSPSDDKALGYQLLRQTVQSVF
PEVNITAPVTSIGNTDSRFFTNLTTGIYRFYPIYIQPEDFKRIHGVNEKISVQAYETQVK
FIFELIQNADTDQEPVSHLHKL
Sequence length 502
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Oleoyl-phe metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
DENTAL CARIES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (104)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28376202, 30808730
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33298155, 34654479, 35163527 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24166889
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 36945018 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 31565867
★★★★★
★☆☆☆☆
Found in Text Mining only
Carbamoyl Phosphate Synthase 1 Deficiency Carbamoyl Phosphate Synthase Deficiency CTD_human_DG 17310273, 8486760
★★★★★
★☆☆☆☆
Found in Text Mining only
Carbamoyl Phosphate Synthase 1 Deficiency Carbamoyl Phosphate Synthase Deficiency BEFREE 9711878
★★★★★
★☆☆☆☆
Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl Phosphate Synthase Deficiency CLINGEN_DG 12655559, 15617192, 19793055, 22173106, 27150549, 27834067, 29801986, 3545062, 8486760, 9711878, 9862865
★★★★★
★☆☆☆☆
Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl Phosphate Synthase Deficiency CTD_human_DG 17310273, 8486760
★★★★★
★☆☆☆☆
Found in Text Mining only
Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamoyl Phosphate Synthase Deficiency ORPHANET_DG 20800523
★★★★★
★☆☆☆☆
Found in Text Mining only