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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	200879
Gene name	Lipase H
Gene symbol	LIPH
Synonyms (NCBI Gene)	AHARWH2HYPT7LAH2LPDLRPLA1BmPA-PLA1
Chromosome	3
Chromosome location	3q27.2
Summary	This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smoot

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201249971	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs201868115	G>T	Pathogenic	Coding sequence variant, missense variant
rs267607219	A>G	Pathogenic	Coding sequence variant, missense variant
rs559648418	AT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs760309219	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs768448663	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments
MIRT1110634	hsa-miR-1273g	CLIP-seq
MIRT1110635	hsa-miR-127-5p	CLIP-seq
MIRT1110636	hsa-miR-1294	CLIP-seq
MIRT1110637	hsa-miR-129-5p	CLIP-seq
MIRT1110638	hsa-miR-150	CLIP-seq
MIRT1110639	hsa-miR-298	CLIP-seq
MIRT1110640	hsa-miR-3152-5p	CLIP-seq
MIRT1110641	hsa-miR-3160-5p	CLIP-seq
MIRT1110642	hsa-miR-323b-5p	CLIP-seq
MIRT1110643	hsa-miR-331-3p	CLIP-seq
MIRT1110644	hsa-miR-339-5p	CLIP-seq
MIRT1110645	hsa-miR-3607-5p	CLIP-seq
MIRT1110646	hsa-miR-3611	CLIP-seq
MIRT1110647	hsa-miR-3678-3p	CLIP-seq
MIRT1110648	hsa-miR-4312	CLIP-seq
MIRT1110649	hsa-miR-4709-3p	CLIP-seq
MIRT1110650	hsa-miR-4774-3p	CLIP-seq
MIRT1110651	hsa-miR-4795-3p	CLIP-seq
MIRT1110652	hsa-miR-485-5p	CLIP-seq
MIRT1110653	hsa-miR-607	CLIP-seq
MIRT2030908	hsa-miR-3189-5p	CLIP-seq
MIRT1110643	hsa-miR-331-3p	CLIP-seq
MIRT1110644	hsa-miR-339-5p	CLIP-seq
MIRT1110645	hsa-miR-3607-5p	CLIP-seq
MIRT1110646	hsa-miR-3611	CLIP-seq
MIRT2030909	hsa-miR-4267	CLIP-seq
MIRT2030910	hsa-miR-4268	CLIP-seq
MIRT2030911	hsa-miR-4323	CLIP-seq
MIRT2030912	hsa-miR-4691-5p	CLIP-seq
MIRT1110649	hsa-miR-4709-3p	CLIP-seq
MIRT2030913	hsa-miR-4780	CLIP-seq
MIRT1110652	hsa-miR-485-5p	CLIP-seq
MIRT2030914	hsa-miR-623	CLIP-seq
MIRT2030915	hsa-miR-766	CLIP-seq
MIRT2261566	hsa-miR-1197	CLIP-seq
MIRT1110637	hsa-miR-129-5p	CLIP-seq
MIRT2261567	hsa-miR-1303	CLIP-seq
MIRT1110638	hsa-miR-150	CLIP-seq
MIRT2261568	hsa-miR-23a	CLIP-seq
MIRT2261569	hsa-miR-23b	CLIP-seq
MIRT2261570	hsa-miR-23c	CLIP-seq
MIRT2261571	hsa-miR-3123	CLIP-seq
MIRT1110640	hsa-miR-3152-5p	CLIP-seq
MIRT2261572	hsa-miR-3166	CLIP-seq
MIRT2261573	hsa-miR-34b	CLIP-seq
MIRT2261574	hsa-miR-3688-5p	CLIP-seq
MIRT2261575	hsa-miR-3714	CLIP-seq
MIRT2261576	hsa-miR-374a	CLIP-seq
MIRT2261577	hsa-miR-374b	CLIP-seq
MIRT2261578	hsa-miR-376a	CLIP-seq
MIRT2261579	hsa-miR-376b	CLIP-seq
MIRT2261580	hsa-miR-3925-5p	CLIP-seq
MIRT2261581	hsa-miR-4436a	CLIP-seq
MIRT2261582	hsa-miR-4457	CLIP-seq
MIRT2261583	hsa-miR-4729	CLIP-seq
MIRT1110650	hsa-miR-4774-3p	CLIP-seq
MIRT2261584	hsa-miR-4794	CLIP-seq
MIRT2261585	hsa-miR-513b	CLIP-seq
MIRT1110653	hsa-miR-607	CLIP-seq
MIRT2261586	hsa-miR-624	CLIP-seq
MIRT2261587	hsa-miR-922	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004620	Function	Phospholipase activity	IBA
GO:0004620	Function	Phospholipase activity	IDA	12963729
GO:0004620	Function	Phospholipase activity	IEA
GO:0004620	Function	Phospholipase activity	TAS
GO:0005515	Function	Protein binding	IPI	32336749
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12963729
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IDA	12963729
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0008201	Function	Heparin binding	IDA	12963729
GO:0008201	Function	Heparin binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IBA
GO:0016042	Process	Lipid catabolic process	IDA	12963729
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016298	Function	Lipase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA

MIM	HGNC	e!Ensembl
607365	18483	ENSG00000163898

Q8WWY8

Protein name

Lipase member H (LIPH) (EC 3.1.1.-) (LPD lipase-related protein) (Membrane-associated phosphatidic acid-selective phospholipase A1-alpha) (mPA-PLA1 alpha) (Phospholipase A1 member B)

Protein function

Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and ph

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00151	Lipase	8 → 326	Lipase	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas, ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In the skin, it is prominently expressed in hair

Sequence

MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSS
AFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHA
SSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPA
GPLFNGKPHQDRLDPSDAQFVDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGG
FQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTE
SKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH
PERPQLCRYDLVLMENVETVFQPILCPELQL

Sequence length

451

Interactions

View interactions

	Reactome
			Synthesis of PA

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypotrichosis 7	Pathogenic; Likely pathogenic	rs2148959539, rs559648418, rs1720449752, rs201249971, rs768448663, rs201868115	RCV000003463 RCV000003464 RCV005632155 RCV000490454 RCV003144188 RCV003144112
Hypotrichosis simplex	Likely pathogenic; Pathogenic	rs201249971	RCV000826145
LIPH-related disorder	Pathogenic; Likely pathogenic	rs559648418, rs760309219	RCV003415636 RCV004755837
Woolly hair, autosomal recessive 2, with or without hypotrichosis	Pathogenic; Likely pathogenic	rs559648418, rs267607219, rs1720449752, rs201249971, rs201868115	RCV000003465 RCV000003468 RCV000003469 RCV000023645 RCV000023646

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Stimulate	26341494
Adenocarcinoma of Lung	Associate	26341494
Alopecia	Associate	24586639
Breast Neoplasms	Associate	25123262, 32618099
Carcinogenesis	Associate	34279685
Carcinoma Pancreatic Ductal	Stimulate	37990271
Carcinoma Squamous Cell	Associate	26341494
Chromosome Aberrations	Associate	18830268
Disease	Associate	19365138
Esophageal Neoplasms	Associate	26341494
Hair Diseases	Associate	19262606
Hypotrichosis	Associate	18830268, 19262606, 19365138, 22385360, 23066499, 24586639, 26902920, 32667621
Hypotrichosis Localized Autosomal Recessive 1	Associate	32336749
Lymphatic Metastasis	Associate	25123262
Mouth Diseases	Associate	34086889
Neoplasm Metastasis	Associate	25123262, 32618099
Neoplasms	Associate	32618099, 37990271
Neoplasms	Stimulate	34279685
Neurodegenerative Diseases	Associate	26113134
Pancreatic Neoplasms	Associate	34279685, 34732125
Spastic Paraplegia Hereditary	Associate	26113134
Tertiary Lymphoid Structures	Associate	32618099
Triple Negative Breast Neoplasms	Associate	32618099
Venom Hypersensitivity	Associate	21731687
Woolly Hair Autosomal Recessive	Associate	19262606, 22385360, 22592156, 24586639
Woolly hair congenital	Associate	18830268, 19365138, 22385360, 32667621

LIPH (lipase H)