LIPH (lipase H)

Gene

• Entrez ID: 200879
• Gene name: Lipase H
• Gene symbol: LIPH
• Synonyms (NCBI Gene): AH, ARWH2, HYPT7, LAH2, LPDLR, PLA1B, mPA-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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 607365
• HGNC: 18483
• e!Ensembl: ENSG00000163898

Protein

• UniProt ID: 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

Pathways

Reactome:

Synthesis of PA

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hypotrichosis 7	Pathogenic; Likely pathogenic	rs2148959539, rs559648418, rs1720449752, rs201249971, rs768448663, rs201868115	RCV000003463 RCV000003464 RCV005632155 RCV000490454 RCV003144188 RCV003144112	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotrichosis simplex	Likely pathogenic; Pathogenic	rs201249971	RCV000826145	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIPH-related disorder	Pathogenic; Likely pathogenic	rs559648418, rs760309219	RCV003415636 RCV004755837	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Woolly hair, autosomal recessive 2, with or without hypotrichosis	Pathogenic; Likely pathogenic	rs559648418, rs267607219, rs1720449752, rs201249971, rs201868115	RCV000003465 RCV000003468 RCV000003469 RCV000023645 RCV000023646	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPOTRICHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOTAL HYPOTRICHOSIS, MARI TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOOLLY HAIR, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24380866		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24380866		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	19167195, 21426374, 26148547, 27375176		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25123262, 32618099	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	24380866		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34279685	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24380866		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37990271	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26341494	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	18461368, 18830268, 19167195, 19262606, 19365138, 21352330, 22044263, 22385360, 22449147, 23066499, 24586639, 26645693, 31077348		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26341494	Associate	★☆☆☆☆ Found in Text Mining only
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	Hypercholesterolemia	BEFREE	26902920		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	LHGDN	17333281, 18445047, 18830268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	BEFREE	18461368, 18830268, 19167195, 19262606, 19365138, 21352330, 22044263, 22385360, 22449147, 23066499, 24586639, 26645693, 31077348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	Pubtator	18830268, 19262606, 19365138, 22385360, 23066499, 24586639, 26902920, 32667621	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	CTD_human_DG	23066499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis	Hypotrichosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 13	Hypotrichosis	BEFREE	23066499		★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 8	Hypotrichosis	BEFREE	18461368		★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	ORPHANET_DG	18445047		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	18820939, 19529952, 19536142, 19766349		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Hypotrichosis simplex	CLINVAR_DG	19892526, 20213768, 21352330, 22449147, 25201209, 25271093, 25899282		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25123262	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24380866		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30774423		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	34086889	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26113134	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34279685, 34732125	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30774423, 31478162		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26113134	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	UNIPROT_DG	17095700, 18830268, 19167195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	17333281, 18445047, 18820939, 19167195, 19529952, 19766349, 21426374, 23066499, 24628704, 26902920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total Hypotrichosis, Mari type	Hypotrichosis	CLINVAR_DG	19892526, 23590372, 24722066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total Hypotrichosis, Mari type	Hypotrichosis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32618099	Associate	★☆☆☆☆ Found in Text Mining only
Woolly Hair Autosomal Recessive	Woolly hair	Pubtator	19262606, 22385360, 22592156, 24586639	Associate	★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	18830268, 19365138, 22385360, 32667621	Associate	★☆☆☆☆ Found in Text Mining only
Woolly Hair, Autosomal Recessive	Woolly hair	BEFREE	18830268, 19262606, 19365138, 21352330, 22385360, 22449147, 23590372, 24586639, 25271093, 27375176, 28425126, 29346610, 29464811		★☆☆☆☆ Found in Text Mining only
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS	WOOLLY HAIR, WITH OR WITHOUT HYPOTRICHOSIS	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Woolly hair, congenital	Woolly hair	ORPHANET_DG	21426374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Woolly hair, congenital	Woolly hair	CTD_human_DG	23066499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations