Homo sapiens Protein: LIPH | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00151
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PRINTS |
PR00821
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PIRSF |
PIRSF000865
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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 | ||||||||||||||||||