• Gene id: 200879

Gene Summary

• Gene Symbol: LIPH   Gene   UCSC   Ensembl
• Aliases: AH, ARWH2, HYPT7, LAH2, LPDLR, PLA1B, mPA-PLA1
• Gene name: lipase H
• Alternate names: lipase member H, LPD lipase-related protein, lipase, member H, mPA-PLA1 alpha, membrane-associated phosphatidic acid-selective phospholipase A1-alpha, membrane-bound phosphatidic acid-selective phospholipase A1, phospholipase A(1), phospholipase A1 member B,
• Gene location: 3q27.2 (185552660: 185506261)     Exons: 17     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 607365

Protein Summary

• Protein general information: Q8WWY8  
  • 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)
  • Length: 451  
  • Mass: 50859
  • 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 hair, it is prominently expressed in hair fol
• Sequence:

  MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSSAFGNLNVTKKTTFIV
  HGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYM
  IGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQFVDVIHSDTDALGYKEPLGNIDFYPN
  GGLDQPGCPKTILGGFQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
  NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTESKINHEPTTFQKYHQ
  VSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAHPERPQLCRYDLVLMENVETVFQPILCPELQ
  L

• Structural information:
  • Interpro: IPR029058  IPR013818  IPR016272  IPR033906  IPR000734  
  • CDD: cd00707
  • STRING: ENSP00000296252
• Other Databases: GeneCards:  LIPH  Malacards:  LIPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016298	lipase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0004620	phospholipase activity	IBA	molecular function
GO:0016042	lipid catabolic process	IBA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0004620	phospholipase activity	IDA	molecular function
GO:0016042	lipid catabolic process	IDA	biological process
GO:0008201	heparin binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0004806	triglyceride lipase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Localized autosomal recessive hypotrichosis	KEGG:H00784
Woolly hair	KEGG:H00667
Localized autosomal recessive hypotrichosis	KEGG:H00784
Woolly hair	KEGG:H00667
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq