LIPH (lipase H)

Gene

• Entrez ID: 200879
• Gene name: Lipase H
• Gene symbol: LIPH
• Synonyms: 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:0004465	Function	Lipoprotein lipase activity	IBA	21873635
GO:0004620	Function	Phospholipase activity	IBA	21873635
GO:0004620	Function	Phospholipase activity	IDA	12963729
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	12963729
GO:0005886	Component	Plasma membrane	IDA	12963729
GO:0005886	Component	Plasma membrane	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IBA	21873635
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0008201	Function	Heparin binding	IDA	12963729
GO:0016042	Process	Lipid catabolic process	IBA	21873635
GO:0016042	Process	Lipid catabolic process	IDA	12963729
GO:0016298	Function	Lipase activity	IBA	21873635
GO:0019433	Process	Triglyceride catabolic process	IBA	21873635

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

• Sequence:

  MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSS
  AFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHA
  SSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPA
  GPLFNGKPHQDRLDPSDAQFVDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGG
  FQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
  NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTE
  SKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH
  PERPQLCRYDLVLMENVETVFQPILCPELQL

• Sequence length: 451

Pathways

Reactome:

Synthesis of PA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Hypotrichosis	Hypotrichosis, Total Hypotrichosis, Mari type	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121	23066499, 18830268, 23590372, 19892526, 24722066, 19167195, 17095700
Hypotrichosis simplex	Hypotrichosis simplex	rs121913026, rs201249971	25271093, 22449147, 20213768, 25899282, 21352330, 19892526, 18445047, 25201209
Woolly hair, with or without hypotrichosis	WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS	rs559648418, rs267607219, rs1720449752, rs201868115, rs201249971

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Comedone	Comedone
Strabismus	Strabismus
Woolly hair	Woolly hair, congenital		21426374, 23066499