Gene_Locus Report

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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
Family|Acidic_Lipase
Block| X
Position in NCBI Life Tree|Homo sapiens
(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


Molecular evidence
Database
1 mutation: human-LIPN
No structure
No kinetic

Disease: Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis -



No Substrate
No inhibitor
1 Genbank : AL358532
1 UniProt : Q5VXI9
1 UniProt : Q5VXI9
1 Interpro : Q5VXI9
1 Prodom : Q5VXI9
1 Pfam : Q5VXI9
1 PIRSF : Q5VXI9
1 SUPERFAM : Q5VXI9
1 EntrezGene : 643418
1 SNP : 643418
1 UniGene : 632091
1 HUGO HGNC : 23452
2 OMIM : 613924, 613943
1 Ensembl : ENSG00000204020
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

MMWLLLTTTCLICGTLNAGGFLDLENEVNPEVWMNTSEIIIYNGYPSEEY
EVTTEDGYILLVNRIPYGRTHARSTGPRPVVYMQHALFADNAYWLENYAN
GSLGFLLADAGYDVWMGNSRGNTWSRRHKTLSETDEKFWAFSFDEMAKYD
LPGVIDFIVNKTGQEKLYFIGHSLGTTIGFVAFSTMPELAQRIKMNFALG
PTISFKYPTGIFTRFFLLPNSIIKAVFGTKGFFLEDKKTKIASTKICNNK
ILWLICSEFMSLWAGSNKKNMNQSRMDVYMSHAPTGSSVHNILHIKQLYH
SDEFRAYDWGNDADNMKHYNQSHPPIYDLTAMKVPTAIWAGGHDVLVTPQ
DVARILPQIKSLHYFKLLPDWNHFDFVWGLDAPQRMYSEIIALMKAYS


References
    Title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
    Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E
    Ref: American Journal of Human Genetics, 88:482, 2011 : PubMed

            

    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

            


Other Papers


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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