Property Summary

NCBI Gene PubMed Count 35
PubMed Score 31.04
PubTator Score 64.09

Knowledge Summary

Patent

No data available

Expression

Gene RIF (28)

PMID Text
26645693 The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype.
25201209 c.460_461AG>GA (p.Ser154Asp) in exon 3 and c.742C>A (p.His248Asn) in exon 6 associated with autosomal recessive woolly hair
25123262 High LIPH expression is associated with metastasis in breast cancer.
24586639 Mutation patterns of LIPH might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis.
24380866 Immunohistochemistry detected LIPH expression in most of the adenocarcinomas and bronchioloalveolar carcinomas obtained from lung cancer patients. LIPH expression was also observed less frequently in the squamous lung cancer tissue samples.
23590372 A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH gene homozygous mutation of c.736T > A is presented.
23550552 Among South Indian subjects without diabetes, the rs1800588 C/T (C-480T) and rs6074 C/A (Thr479Thr) variants of the HL gene are associated with hypertriglyceridemia and low HDL-C, respectively. The TGC haplotype was significantly associated with low HDL-C
23066499 analysis of the LIPH gene revealed homozygosity for a novel truncating mutation, as well as three previously identified mutations in affected individuals with autosomal recessive hypotrichosis and woolly hair.
22475755 The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis [case report]
22125978 the c.659_660delTA mutation in the LIPH gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family.
21857648 A phosphatidic acid-phospholipase A1alpha-lysophosphatidic acid-P2Y5 axis regulates differentiation of hair follicles via a tumour necrosis factor alpha converting enzyme-transforming growth factor alpha-epidermal growth factor receptor pathway.
21426374 Mutations identified in the present study extend the body of evidence implicating LPAR6 and LIPH genes in pathogenesis of human hereditary hair loss.
21352330 736T>A transition is highly specific and common in autosomal recessive woolly hair/hypotrichosis of Japanese origin.
20213768 The results suggest defective activation of P2Y5 due to reduced 2-acyl lysophosphatidic acid production by the mutant PA-PLA1a that are encoded by LIPH is involved in the pathogenesis of ARH.
20107739 Studied five consanguineous Pakistani families with autosomal recessive hypotrichosis and identified a novel splice site and two previously reported mutations in the LIPH gene.
19892526 these findings not only expand the spectrum of LIPH mutations, but also provide a better understanding of the crucial role of the LIPH/LPA/P2Y5 signaling in hair growth in humans.
19766349 Mutations in LIPH result in variable degrees of hypotrichosis simplex, woolly hair is an essential component of the clinical spectrum;hot spot in the LIPH gene may be c.280_369dup in exon 2
19536142 Our study increases the spectrum of known LIPH mutations and provides biochemical evidence for the important role of lipase H and its product LPA in human hair growth
19262606 crucial role of LIPH gene in hair growth.
19167195 The mutations reported here are the first missense mutations identified in the LIPH gene, which extend the body of evidences implicating the LIPH gene in the pathogenesis of human hereditary hair loss.
18830268 LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a phenotype clinically indistinguishable from P2RY5 mutations
18820939 gene duplication mutation in exon 2 was found to segregate with hypotrichosis in consanguineous and distantly related Izraeli families
18795930 The deletion mutation (c.682delT) reported lies between beta9 and lid loops and changes the reading frame after 31 amino acids, thereby eliminating the lid peptide sequence required for substrate recognition in combination with beta9 loop.
18445047 a novel deletion mutation in exon 5 (c.659-660delTA) causing frameshift and downstream premature termination codon causes autosomal recessive hypotrichosis (LAH2)
17333281 identification of a novel deletion mutation in exon 2 of LIPH gene in a Pakistani family with autosomal recessive hypotrichosis
17095700 individuals with an inherited form of hair loss and a hair growth defect were homozygous for a deletion in the LIPH gene on chromosome 3q27; results suggest that lipase H participates in hair growth and development
12213196 mRNA expressed in intestine, lung, and pancreas. Lipase H protein was also detected in human intestine.
12063250 PA-selective PLA(1) has a role in LPA production.

AA Sequence

MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKNLTCAQTINSSAFGNLNVTKK      1 - 70
TTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMNVVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLA     71 - 140
EGASLDDIYMIGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQFVDVIHSDTDA    141 - 210
LGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQRSVYLYLSSLRESCTITAYPCDSYQDYRNGK    211 - 280
CVSCGTSQKESCPLLGYYADNWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIK    281 - 350
LRDKAGNTTESKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAH    351 - 420
PERPQLCRYDLVLMENVETVFQPILCPELQL                                           421 - 451
//

Text Mined References (35)

PMID Year Title
26645693 Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
25201209 2014 Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family.
25123262 2014 Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients.
24586639 2014 Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
24380866 2014 Lipase member H is a novel secreted protein selectively upregulated in human lung adenocarcinomas and bronchioloalveolar carcinomas.
23590372 2013 Two cases of autosomal recessive woolly hair with LIPH gene mutations.
23550552 2013 Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes.
23066499 2012 A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
22475755 2012 The ?9 loop domain of PA-PLA1? has a crucial role in autosomal recessive woolly hair/hypotrichosis.
22125978 2011 Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
21857648 2011 LPA-producing enzyme PA-PLA?? regulates hair follicle development by modulating EGFR signalling.
21426374 2011 Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
21352330 2011 Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
20213768 2010 Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.
20107739 2010 Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families.
19892526 2009 Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
19766349 2009 Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
19536142 2009 In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth.
19262606 2009 Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
19167195 2009 Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
18830268 2009 Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
18820939 2009 A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
18795930 2009 A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).
18445047 2008 A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2).
17333281 2007 A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17095700 2006 Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
15520410 2004 A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12963729 2003 Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta.
12719377 2003 Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12213196 2002 Lipase H, a new member of the triglyceride lipase family synthesized by the intestine.
12063250 2002 A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid.