PM20D1 (peptidase M20 domain containing 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
148811
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidase M20 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PM20D1
Synonyms (NCBI Gene) Gene synonyms aliases
Cps1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0004046 Function Aminoacylase activity IEA
GO:0006508 Process Proteolysis IEA
GO:0006520 Process Cellular amino acid metabolic process IBA 21873635
GO:0006520 Process Cellular amino acid metabolic process IDA 27374330
GO:0006631 Process Fatty acid metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617124 26518 ENSG00000162877
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)		 22438815, 19915575
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (17)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33298155, 34654479, 35163527
Carotid Artery Diseases Inhibit 35544855
Carotid Stenosis Associate 39791430
Cognitive Dysfunction Associate 33298155, 34654479
Dementia Associate 35299244
Dermatitis Atopic 3 Associate 30681197
Distal Myopathies Associate 38015635
Leukemia Myeloid Acute Associate 29207054
Neurodegenerative Diseases Associate 35163527, 35986394
Obesity Associate 25429063, 35544855