Gene_locus Report for: human-LIPN Homo sapiens (Human) lipase-like, Lipase-like abhydrolase domain-containing protein 4
Comment
A mutation in LIPN, encoding epidermal lipase N (2 bp deletion results in the generation of a stop codon 2 aminoacids downstream of the mutation E133D), causes a late-onset form of autosomal-recessive congenital ichthyosis Relationship
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.) cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E A85-EsteraseD-FGH :
human-ESD .
ABHD6-Lip :
human-ABHD6 .
ABHD8 :
human-ABHD8 Homo sapiens (Human) Abhydrolase domain containing 8 (ABHD8) cDNA FLJ11743 fis, clone HEMBA1005517 .
ABHD10 :
human-ABHD10 Homo sapiens (Human) ABHDA ABHD10 Abhydrolase domain-containing protein 10, Mycophenolic acid acyl-glucuronide esterase, mitochondrial .
ABHD11-Acetyl_transferase :
human-ABHD11 Homo sapiens (Human) (EC 3.3.2.3) Abhydrolase domain-containing protein 11 williams-beuren syndrome critical region protein 21 .
ABHD12-PHARC :
human-ABHD12 Homo sapiens (Human) abhydrolase domain-containing protein 12. Protein C20orf22, flj90542, CT022, 2-arachidonoylglycerol hydrolase, Monoacylglycerol lipase ,
human-ABHD12B Homo sapiens (Human) Abhydrolase domain-containing protein 12B ABHD12B protein c14orf29 .
ABHD13-BEM46 :
human-ABHD13 Homo sapiens (Human) C13orf6 Q7L211 ABHDD_HUMAN ABHD13 Abhydrolase domain-containing protein 13 .
ABHD16 :
human-ABHD16A Homo sapiens (Human) Abhydrolase domain-containing protein 16A BAT5 (HLA-B-associated transcript 5) (NG26 protein) (G5) (PP199) ,
human-ABHD16B Homo sapiens (Human) ABHD16B PS-PLA1 lipase activity .
ABHD17-depalmitoylase :
human-ABHD17A Homo sapiens (Human) Abhydrolase domain-containing protein FAM108A1, C19orf27 ABHD17A ,
human-ABHD17B Homo sapiens (Human) CGI-67 C9orf77 FAM108B1 protein Abhydrolase domain-containing protein FAM108B1 ,
human-ABHD17C Homo sapiens (Human) Abhydrolase domain-containing protein FAM108C1 Q6PCB6 F108C_HUMAN .
ABHD18 :
human-ABHD18 Homo sapiens (Human) ABHD18 C4orf29 CD029 hypothetical protein .
abh_upf0017 :
human-ABHD1 Homo sapiens (Human) lung alpha/beta hydrolase 1 ,
human-ABHD2 Homo sapiens (Human) Monoacylglycerol lipase ABHD2 LABH2 LBH2 protein phps1-2 ,
human-ABHD3 Homo sapiens (Human) hypothetical 49.3 kda protein ,
human-ABHD15 Homo sapiens (Human) ABH15 Abhydrolase domain-containing protein 15 .
ACHE :
human-ACHE .
Acidic_Lipase :
human-LIPA ,
human-LIPF ,
human-LIPJ Homo sapiens (Human) Lipase member J lipase-like, ab-hydrolase domain containing 1 ,
human-LIPK Homo sapiens (Human) Lipase member K lipase-like, ab-hydrolase domain containing 2 LIPL2 ,
human-LIPM Homo sapiens (Human) LIPM LIPL3 ba304i5.1 .
ACPH_Peptidase_S9 :
human-APEH Homo sapiens (Human) acylamino acid-releasing enzyme APH APEH .
Acyl-CoA_Thioesterase :
human-ACOT1 Homo sapiens (Human) Inducible cytosolic acyl-coenzyme A thioester hydrolase Long chain Acyl-CoA hydrolase) (cte-i) (cte-ib) ,
human-ACOT2 ,
human-ACOT4 ,
human-ACOT6 Homo sapiens (Human) Acyl-CoA thioesterase 6 (EC 3.1.2.2) ,
human-BAAT Homo sapiens (Human) bile acid CoA: amino acid n-acyltransferase (EC 3.1.2.2) .
Arb2_FAM172A :
human-f172a Homo sapiens (Human).Cotranscriptional regulator Protein FAM172A .
Arylacetamide_deacetylase :
human-AADAC Homo sapiens (Human) arylacetamide deacetylase ,
human-AADACL2 Homo sapiens (Human) similar to arylacetamide deacetylase (aadac) ,
human-AADACL3 Homo sapiens (Human) AADACL3 arylacetamide deacetylase-like 3 ADCL3 ,
human-AADACL4 Homo sapiens (Human) Arylacetamide deacetylase-like 4 ,
human-NCEH1 Homo sapiens (Human) NCEH1 KIAA1363 AADACL1 neutral cholesterol ester hydrolase 1 .
BCHE :
human-BCHE .
Carboxypeptidase_S10 :
human-CPVL Homo sapiens (Human) carboxypeptidase, vitellogenic-like CP-Mac ou CPVL carboxypeptidase WUG ,
human-CTSA ,
human-SCPEP1 Homo sapiens (Human) serine Retinoid-inducible serine carboxypeptidase RISC SCP1 (EC 3.4.16.-) .
Carb_B_Chordata :
human-CES1 ,
human-CES2 Homo sapiens (Human) carboxylesterase hCE-2,iCE, hiCE, CES2 gene cDNA FLJ76104 Cocaine esterase ,
human-CES3 Homo sapiens (Human) Carboxylesterase 3 (Brain) Liver carboxylesterase 31 homolog ,
human-CES4A Homo sapiens (Human) Carboxylesterase 4A Carboxylesterase 8 ,
human-CES5A Homo sapiens (Human) est5a CES7 Cauxin Carboxylesterase-like urinary excreted protein homolog .
CGI-58_ABHD5_ABHD4 :
human-ABHD4 Homo sapiens (Human) abhydrolase domain-containing protein 4 FLJ12816 similar to 2-hydroxymuconic semialdehyde hydrolase (EC 3.1.1.-) ,
human-ABHD5 .
Cholesterol_esterase :
human-CEL .
CIB-CCG1-interacting-factor-B :
human-ABHD14A Homo sapiens (Human) Abhydrolase domain-containing protein 14A srsq1913 ,
human-CIB .
CMBL :
human-CMBL Homo sapiens (Human) Carboxymethylenebutenolidase homolog .
DPP4N_Peptidase_S9 :
human-DPP4 ,
human-DPP6 ,
human-DPP8 ,
human-DPP9 ,
human-DPP10 ,
human-FAP .
Duf_676 :
human-FAM135A Homo sapiens (Human) F135A DKFZp781H2319 FLJ20176 fis KIAA1411 previously human-F135A ,
human-FAM135B Homo sapiens (Human) F135B loc51059 c8orfk32 protein .
Duf_726 :
human-TMCO4 Homo sapiens (Human) Transmembrane and coiled-coil domain-containing protein 4 .
Duf_829 :
human-TMEM53 Homo sapiens (Human) Transmembrane protein 53, FLJ22353, NET4 .
Epoxide_hydrolase :
human-EPHX1 Homo sapiens (Human) microsomal epoxide hydrolase HYEP mEH, epoxide hydratase EPHX1 ,
human-EPHX2 ,
human-EPHX3 Homo sapiens (Human) Epoxide hydrolase 3 (EPHX3) Abhydrolase domain-containing protein 9 (ABHD9) FLJ22408 ,
human-EPHX4 Homo sapiens (Human) Epoxide hydrolase 4 EPHX4 ABHD7 EPHXRP Abhydrolase domain-containing protein 7 .
FSH1 :
human-OVCA2 Homo sapiens (Human) Candidate tumor suppressor in ovarian cancer .
Hepatic_Lipase :
human-LIPC Homo sapiens (Human) LIPC hepatic triacylglycerol lipase HTGL .
Hormone-sensitive_lipase_like :
human-LIPE Human mRNA (Human) hormone sensitive lipase HSL .
Hydrolase_RBBP9_YdeN :
human-RBBP9 .
Kynurenine-formamidase :
human-AFMID Homo sapiens (Human) Kynurenine formamidase .
LIDHydrolase :
human-LDAH Homo sapiens (Human) lipid droplet-associated hydrolase (LDAH) C2orf43 .
Lipase_3 :
human-DAGLA Homo sapiens (Human) DAGLA Sn1-specific diacylglycerol lipase alpha DGL-alpha, neural stem cell-derived dendrite regulator KIAA0659 ,
human-DAGLB Homo sapiens (Human) DAGLB Sn1-specific diacylglycerol lipase beta kccr13l FLJ36639 .
Lipoprotein_Lipase :
human-LIPG Homo sapiens (Human) endothelial lipase LIPE_HUMAN flj43354 ,
human-LPL .
LYsophospholipase_carboxylesterase :
human-LYPLA1 ,
human-LYPLA2 ,
human-LYPLAL1 .
Maspardin-ACP33-SPG21_like :
human-SPG21 Homo sapiens (Human) Maspardin spg21 acid cluster protein 33 ACP33 sbm-019 (gl010)flj24010 Maspardin .
MEST-like :
human-MEST Homo sapiens (Human) MEST mesoderm-specific transcript .
Monoglyceridelipase_lysophospholip :
human-MGLL .
Ndr_family :
human-NDRG1 ,
human-NDRG2 ,
human-NDRG3 ,
human-NDRG4 Homo sapiens (Human) NDRG4, N-myc downstream-regulated gene 4 protein (smap-8) flj42011 flj16174 flj44611 .
Neuroligin :
human-NLGN1 ,
human-NLGN2 ,
human-NLGN3 Homo sapiens (Human) Neuroligin 3 KIAA1480 ,
human-NLGN4X ,
human-NLGN4Y Homo sapiens (Human) Neuroligin-4, Y-linked precursor (Neuroligin Y) KIAA0951 .
NLS3-Tex30 :
human-KANSL3 Homo sapiens (Human) KAT8 regulatory NSL complex subunit 3, Testis development protein PRTD, KIAA1310, PRTD, SI1, FLJ10081, NSL3, Rcd1 ,
human-TEX30 Homo sapiens (Human) testis expressed 30 C13orf27 chromosome 13 open reading frame 27 .
PAF-Acetylhydrolase :
human-PAFAH2 Homo sapiens (Human) (EC 3.1.1.47) platelet-activating factor acetylhydrolase 2, cytoplasmic (serine dependent phospholipase a2) (hsd-pla2), PAFAH2, PAFA2 PAF-AH ,
human-PLA2G7 .
Palmitoyl-protein_thioesterase :
human-PPT1 ,
human-PPT2 .
Pancreatic_lipase :
human-PNLIP ,
human-PNLIPRP1 ,
human-PNLIPRP2 ,
human-PNLIPRP3 Homo sapiens (Human) Pancreatic lipase-related protein 3 .
PC-sterol_acyltransferase :
human-LCAT ,
human-PLA2G15 .
Pectinacetylesterase-Notum :
human-NOTUM .
PGAP1 :
human-PGAP1 Homo sapiens (Human)GPI inositol-deacylase PGAP1 117.8 kd protein in ste2-frs2 intergenic region ,
human-SERAC1 Homo sapiens (Human) Protein SERAC1 .
Phospholipase :
human-LIPH Homo sapiens (Human) membrane-bound phosphatidic acid-selective phospholipase a1-alpha, LPD lipase-related protein mPA-PLA1 alpha ,
human-LIPI Homo sapiens (Human) membrane-associated phosphatidic acid-selective phospholipase a1 beta mPA-PLA1 beta (LPD lipase) Cancer/testis antigen 17 CT17 ,
human-PLA1A Homo sapiens (Human) Phospholipase A1 member A, phosphatidylserine-specific phospholipase A1 deltaC .
PPase_methylesterase_euk :
human-PPME1 .
Prolylcarboxypeptidase :
human-DPP7 ,
human-PRCP ,
human-PRSS16 Homo sapiens (Human) PRSS16 protease, serine, 16 (thymus) TSSP thymus-specific serine protease precursor (EC 3.4.-.-) .
S9N_PPCE_Peptidase_S9 :
human-PREP .
S9N_PREPL_Peptidase_S9 :
human-PREPL .
SERHL :
human-SERHL2 Homo sapiens (Human) serine hydrolase-like protein 2 SERHL2 chomosome 22 .
Thioesterase :
human-FASN ,
human-OLAH .
Thyroglobulin :
human-TG .
Valacyclovir-hydrolase :
human-BPHL Molecular evidence
Database
Sequence
Graphical view for this peptide sequence: human-LIPN Colored MSA for Acidic_Lipase (raw)
MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEY
EVTTEDGYILLVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYAN
GSLGFLLADAGYDVWMGNSRGNTWSRRHKTLSETDEKFWAFSFDEMAKYD
LPGVIDFIVNKTGQEKLYFIGHSLGTTIGFVAFSTMPELAQRIKMNFALG
PTISFKYPTGIFTRFFLLPNSIIKAVFGTKGFFLEDKKTKIASTKICNNK
ILWLICSEFMSLWAGSNKKNMNQSRMDVYMSHAPTGSSVHNILHIKQLYH
SDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQ
DVARILPQIKSLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS
Legend
This sequence has been compared to family alignement (MSA) red => minority aminoacid blue => majority aminoacid color intensity => conservation rate title => sequence position(MSA position)aminoacid rate Catalytic site Catalytic site in the MSA
M M W L L L T T T C L I C G T L N A G G F L D L E N E V N P E V W M N T S E I I I Y N G Y P S E E Y E V T T E D G Y I L L V N R I P Y G R T H A R S T G P R P V V Y M Q H A L F A D N A Y W L E N Y A N G S L G F L L A D A G Y D V W M G N S R G N T W S R R H K T L S E T D E K F W A F S F D E M A K Y D L P G V I D F I V N K T G Q E K L Y F I G H S L G T T I G F V A F S T M P E L A Q R I K M N F A L G P T I S F K Y P T G I F T R F F L L P N S I I K A V F G T K G F F L E D K K T K I A S T K I C N N K I L W L I C S E F M S L W A G S N K K N M N Q S R M D V Y M S H A P T G S S V H N I L H I K Q L Y H S D E F R A Y D W G N D A D N M K H Y N Q S H P P I Y D L T A M K V P T A I W A G G H D V L V T P Q D V A R I L P Q I K S L H Y F K L L P D W N H F D F V W G L D A P Q R M Y S E I I A L M K A Y S
References
Title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosisIsraeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E Ref: American Journal of Human Genetics, 88 :482, 2011 : PubMed Abstract ESTHER: Israeli_2011_Am.J.Hum.Genet_88_482 PubMedSearch: Israeli 2011 Am.J.Hum.Genet 88 482 PubMedID: 21439540 Gene_locus related to this paper: human-LIPN Abstract
Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree. By using a combination of homozygosity mapping and positional candidate-gene screening, we identified a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family. LIPN encodes one of six acid lipases known to be involved in triglyceride metabolism in mammals . LIPN was found to be exclusively expressed in the epidermis and to be strongly induced during keratinocyte differentiation.
Title: Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo)Holmes RS , Cox LA , Vandeberg JL Ref: Comparative Biochemistry & Physiology Part D Genomics Proteomics, 5 :217, 2010 : PubMed Abstract ESTHER: Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217 PubMedSearch: Holmes 2010 Comp.Biochem.Physiol.Part.D.Genomics.Proteomics 5 217 PubMedID: 20598663 Gene_locus related to this paper: human-LIPF ,
human-LIPJ ,
human-LIPK ,
human-LIPM ,
human-LIPN ,
mouse-LIPK Abstract
At least six families of mammalian acid lipases (E.C. 3.1.1.-) catalyse the hydrolysis of triglycerides in the body, designated as LIPA (lysosomal), LIPF (gastric), LIPJ (testis) and LIPK, LIPM and LIPN (epidermal), which belong to the AB hydrolase superfamily. In this study, in silico methods were used to predict the amino acid sequences, secondary and tertiary structures, and gene locations for acid lipase genes and encoded proteins using data from several mammalian genome projects. Mammalian acid lipase genes were located within a gene cluster for each of the 8 mammalian genomes examined, including human (Homo sapiens), chimpanzee (Pons troglodytes), rhesus monkey (Macacca mulatta), mouse (Mus musculus), rat (Rattus norvegicus), cow (Bos taurus), horse (Equus caballus) and dog (Canis familaris), with each containing 9 coding exons. Human and mouse acid lipases shared 44-87% sequence identity and exhibited sequence alignments and identities for key amino acid residues and conservation of predicted secondary and tertiary structures with those previously reported for human gastric lipase (LIPF) (Roussel et al., 1999). Evidence for a new family of acid lipase genes is reported for mouse and rat genomes, designated as Lipo. Mouse acid lipase genes are subject to differential mRNA tissue expression, with Lipa showing wide tissue expression, while others have a more restricted tissue expression in the digestive tract (Lipf), salivary gland (Lipo) and epidermal tissues (Lipk, Lipm and Lipn). Phylogenetic analyses of the mammalian acid lipase gene families suggested that these genes are products of gene duplication events prior to eutherian mammalian evolution and derived from an ancestral vertebrate LIPA gene, which is present in the frog, Xenopus tropicalis.
Other Papers
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