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

No mutation

No structure

No kinetic

No substrate

No inhibitor

Database

Sequence

Peptide

MMWLLLTTTC LICGTLNAGG FLDLENEVNP EVWMNTSEII IYNGYPSEEY EVTTEDGYIL LVNRIPYGRT HARSTGPRPV VYMQHALFAD NAYWLENYAN GSLGFLLADA GYDVWMGNSR GNTWSRRHKT LSETDEKFWA FSFDEMAKYD LPGVIDFIVN KTGQEKLYFI GHSLGTTIGF VAFSTMPELA QRIKMNFALG PTISFKYPTG IFTRFFLLPN SIIKAVFGTK GFFLEDKKTK IASTKICNNK ILWLICSEFM SLWAGSNKKN MNQSRMDVYM SHAPTGSSVH NILHIKQLYH SDEFRAYDWG NDADNMKHYN QSHPPIYDLT AMKVPTAIWA GGHDVLVTPQ DVARILPQIK SLHYFKLLPD WNHFDFVWGL DAPQRMYSEI IALMKAYS

References (2)

Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482
Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E
Ref : American Journal of Human Genetics , 88 :482 , 2011
PubMedID: 21439540
Gene_locus related to this paper: human-LIPN

Title : Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo) - Holmes_2010_Comp.Biochem.Physiol.Part.D.Genomics.Proteomics_5_217
Author(s) : Holmes RS , Cox LA , Vandeberg JL
Ref : Comparative Biochemistry & Physiology Part D Genomics Proteomics , 5 :217 , 2010
PubMedID: 20598663
Gene_locus related to this paper: human-LIPF , human-LIPJ , human-LIPK , human-LIPM , human-LIPN , mouse-LIPK