Homo sapiens Protein: LIPH
Summary
InnateDB Protein IDBP-68531.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LIPH
Protein Name lipase, member H
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000296252
InnateDB Gene IDBG-68529 (LIPH)
Protein Structure
UniProt Annotation
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 phosphatidylethanolamine (PE) or triacylglycerol (TG). {ECO:0000269PubMed:12063250, ECO:0000269PubMed:12963729}.
Subcellular Localization Secreted. Membrane; Peripheral membrane protein.
Disease Associations Hypotrichosis 7 (HYPT7) [MIM:604379]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. {ECO:0000269PubMed:17095700, ECO:0000269PubMed:19167195}. Note=The disease is caused by mutations affecting the gene represented in this entry.Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. {ECO:0000269PubMed:18830268}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 follicles, including the stem cell-rich bulge region. {ECO:0000269PubMed:12063250, ECO:0000269PubMed:12213196, ECO:0000269PubMed:12719377, ECO:0000269PubMed:17095700}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004620 phospholipase activity
GO:0008201 heparin binding
GO:0052689 carboxylic ester hydrolase activity
Biological Process
GO:0006629 lipid metabolic process
GO:0016042 lipid catabolic process
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR000734 Lipase
IPR008976 Lipase/lipooxygenase, PLAT/LH2
IPR013818 Lipase, N-terminal
IPR016272 Lipoprotein lipase, LIPH
IPR029058 Alpha/Beta hydrolase fold
PFAM PF00151
PRINTS PR00821
PIRSF PIRSF000865
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WWY8
PhosphoSite PhosphoSite-Q8WWY8
TrEMBL A2IBA8
UniProt Splice Variant
Entrez Gene 200879
UniGene Hs.68864
RefSeq NP_640341
HUGO HGNC:18483
OMIM 607365
CCDS CCDS3272
HPRD 07392
IMGT
EMBL AK074229 AK122651 AY036912 AY093498 BC064941 CH471052 EF186229 EF186230
GenPept AAH64941 AAK63178 AAM18803 ABM67095 ABM67096 BAB85023 BAG53642 EAW78218