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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	375775
Gene name	Patatin like domain 7, lysophospholipase
Gene symbol	PNPLA7
Synonyms (NCBI Gene)	C9orf111NTE-R1NTEL1
Chromosome	9
Chromosome location	9q34.3
Summary	Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments
MIRT1245496	hsa-miR-103a	CLIP-seq
MIRT1245497	hsa-miR-107	CLIP-seq
MIRT1245498	hsa-miR-188-3p	CLIP-seq
MIRT1245499	hsa-miR-3127-5p	CLIP-seq
MIRT1245500	hsa-miR-3918	CLIP-seq
MIRT1245501	hsa-miR-4711-5p	CLIP-seq
MIRT1245502	hsa-miR-532-3p	CLIP-seq
MIRT2299836	hsa-miR-1228	CLIP-seq
MIRT1245498	hsa-miR-188-3p	CLIP-seq
MIRT2299837	hsa-miR-214	CLIP-seq
MIRT2299838	hsa-miR-2682	CLIP-seq
MIRT2299839	hsa-miR-27a	CLIP-seq
MIRT2299840	hsa-miR-27b	CLIP-seq
MIRT1245499	hsa-miR-3127-5p	CLIP-seq
MIRT2299841	hsa-miR-3619-5p	CLIP-seq
MIRT1245500	hsa-miR-3918	CLIP-seq
MIRT2299842	hsa-miR-4436a	CLIP-seq
MIRT2299843	hsa-miR-4436b-3p	CLIP-seq
MIRT2299844	hsa-miR-449c	CLIP-seq
MIRT2299845	hsa-miR-4514	CLIP-seq
MIRT2299846	hsa-miR-4690-5p	CLIP-seq
MIRT2299847	hsa-miR-4692	CLIP-seq
MIRT2299848	hsa-miR-4700-3p	CLIP-seq
MIRT2299849	hsa-miR-513a-5p	CLIP-seq
MIRT1245502	hsa-miR-532-3p	CLIP-seq
MIRT2299850	hsa-miR-761	CLIP-seq
MIRT2456795	hsa-miR-2115	CLIP-seq
MIRT2299837	hsa-miR-214	CLIP-seq
MIRT2299839	hsa-miR-27a	CLIP-seq
MIRT2299840	hsa-miR-27b	CLIP-seq
MIRT1245499	hsa-miR-3127-5p	CLIP-seq
MIRT2456796	hsa-miR-3158-3p	CLIP-seq
MIRT2456797	hsa-miR-338-3p	CLIP-seq
MIRT2299841	hsa-miR-3619-5p	CLIP-seq
MIRT1245500	hsa-miR-3918	CLIP-seq
MIRT2299843	hsa-miR-4436b-3p	CLIP-seq
MIRT2456798	hsa-miR-4530	CLIP-seq
MIRT2299849	hsa-miR-513a-5p	CLIP-seq
MIRT2299850	hsa-miR-761	CLIP-seq
MIRT2299839	hsa-miR-27a	CLIP-seq
MIRT2299840	hsa-miR-27b	CLIP-seq
MIRT1245499	hsa-miR-3127-5p	CLIP-seq
MIRT2299849	hsa-miR-513a-5p	CLIP-seq
MIRT2299839	hsa-miR-27a	CLIP-seq
MIRT2299840	hsa-miR-27b	CLIP-seq
MIRT1245499	hsa-miR-3127-5p	CLIP-seq
MIRT2299849	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IBA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0034638	Process	Phosphatidylcholine catabolic process	IEA

MIM	HGNC	e!Ensembl
612122	24768	ENSG00000130653

Q6ZV29

Protein name

Patatin-like phospholipase domain-containing protein 7 (EC 3.1.1.-) (EC 3.1.1.5)

Protein function

Lysophospholipase which preferentially deacylates unsaturated lysophosphatidylcholine (C18:1), generating glycerophosphocholine. Also can deacylate, to a lesser extent, lysophosphatidylethanolamine (C18:1), lysophosphatidyl-L-serine (C18:1) and

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00027	cNMP_binding	163 → 258	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	477 → 566	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	594 → 682	Cyclic nucleotide-binding domain	Domain
PF01734	Patatin	928 → 1094	Patatin-like phospholipase	Family

Sequence

MEEEKDDSPQLTGIAVGALLALALVGVLILFMFRRLRQFRQAQPTPQYRFRKRDKVMFYG
RKIMRKVTTLPNTLVENTALPRQRARKRTKVLSLAKRILRFKKEYPALQPKEPPPSLLEA
DLTEFDVKNSHLPSEVLYMLKNVRVLGHFEKPLFLELCKHIVFVQLQEGEHVFQPREPDP
SICVVQDGRLEVCIQDTDGTEVVVKEVLAGDSVHSLLSILDIITGHAAPYKTVSVRAAIP
STILRLPAAAFHGVFEKYPETLVRVVQIIMVRLQRVTFLALHNYLGLTTELFNAESQAIP
LVSVASVAAGKAKKQVFYGEEERLKKPPRLQESCDSDHGGGRPAAAGPLLKRSHSVPAPS
IRKQILEELEKPGAGDPDPSAPQGGPGSATSDLGMACDRARVFLHSDEHPGSSVASKSRK
SVMVAEIPSTVSQHSESHTDETLASRKSDAIFRAAKKDLLTLMKLEDSSLLDGRVALLHV
PAGTVVSRQGDQDASILFVVSGLLHVYQRKIGSQEDTCLFLTRPGEMVGQLAVLTGEPLI
FTVKANRDCSFLSISKAHFYEIMRKQPTVVLGVAHTVVKRMSSFVRQIDFALDWVEVEAG
RAIYRQGDKSDCTYIMLSGRLRSVIRKDDGKKRLAGEYGRGDLVGVVETLTHQARATTVH
AVRDSELAKLPAGALTSIKRRYPQVVTRLIHLLGEKILGSLQQGPVTGHQLGLPTEGSKW
DLGNPAVNLSTVAVMPVSEEVPLTAFALELEHALSAIGPTLLLTSDNIKRRLGSAALDSV
HEYRLSSWLGQQEDTHRIVLYQADGTLTPWTQRCVRQADCILIVGLGDQEPTVGELERML
ESTAVRAQKQLILLHREEGPAPARTVEWLNMRSWCSGHLHLCCPRRVFSRRSLPKLVEMY
KHVFQRPPDRHSDFSRLARVLTGNAIALVLGGGGARGCAQVGVLKALAECGIPVDMVGGT
SIGAFVGALYSEERNYSQMRIRAKQWAEGMTSLMKAALDLTYPITSMFSGAGFNSSIFSV
FKDQQIEDLWIPYFAITTDITASAMRVHTDGSLWWYVRASMSLSGYMPPLCDPKDGHLLM
DGGYINNLPADVARSMGAKVVIAIDVGSRDETDLTNYGDALSGWWLLWKRWNPLATKVKV
LNMAEIQTRLAYVCCVRQLEVVKSSDYCEYLRPPIDSYSTLDFGKFNEICEVGYQHGRTV
FDIWGRSGVLEKMLRDQQGPSKKPASAVLTCPNASFTDLAEIVSRIEPAKPAMVDDESDY
QTEYEEELLDVPRDAYADFQSTSAQQGSDLEDESSLRHRHPSLAFPKLSEGSSDQDG

Sequence length

1317

Interactions

View interactions

	KEGG
	Glycerophospholipid metabolism

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 (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULIBREY NANISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mulibrey nanism syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Premature ovarian failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	37861523	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	37861523	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	29996846	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	36499308	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	32496000	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Associate	37861523	★★★★★ ★☆☆☆☆ Found in Text Mining only

PNPLA7 (patatin like domain 7, lysophospholipase)