Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

Show/Hide all(7)

miRTarBase ID	miRNA	Experiments
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
MIRT1244023	hsa-miR-514b-5p	CLIP-seq
MIRT2299143	hsa-miR-451b	CLIP-seq

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
GO:0006520	Process	Amino acid metabolic process	IBA
GO:0006520	Process	Amino acid metabolic process	IDA	27374330
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IDA	27374330
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	EXP	27374330
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IBA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0043604	Process	Amide biosynthetic process	IBA
GO:0043604	Process	Amide biosynthetic process	IDA	27374330
GO:0043604	Process	Amide biosynthetic process	IEA
GO:0043605	Process	Amide catabolic process	IBA
GO:0043605	Process	Amide catabolic process	IDA	27374330
GO:0043605	Process	Amide catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097009	Process	Energy homeostasis	IEA
GO:1990845	Process	Adaptive thermogenesis	IEA
GO:1990845	Process	Adaptive thermogenesis	TAS

MIM	HGNC	e!Ensembl
617124	26518	ENSG00000162877

Protein

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

	Reactome
			Oleoyl-phe metabolism

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Pain	Associate	38015635
Parkinson Disease	Associate	30814270
Polycystic Ovary Syndrome	Associate	34704236
Prostatic Neoplasms	Associate	33404048
Respiratory Insufficiency	Associate	30681197
Respiratory Sounds	Associate	30681197
Stroke	Associate	25429063, 35544855

PM20D1 (peptidase M20 domain containing 1)