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Gene_locus Report for: human-LIPH

Homo sapiens (Human) membrane-bound phosphatidic acid-selective phospholipase a1-alpha, LPD lipase-related protein mPA-PLA1 alpha

Comment
Hypotrichosis, or woolly hair with or without hypotrichosis (deficiency of hair growth), can be caused by homozygous or compound heterozygous mutation in the LIPH (human-LIPH) gene on chromosome 3q27 (not hepatic lipase human-LIPC). First mutation described by Kazantseva et al


Relationship
Family|Phospholipase
Block| L
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
32 mutations: Table (e.g. : 1303_1309dupGAAAACG_human-LIPH, 90-bp280-369-duplexon2_human-LIPH, C233W_human-LIPH ... more)
No structure
No kinetic

Disease: Hypotrichosis -



2 substrates: Dioleoyllecithin, PED-A1
No inhibitor
>3 Genbank links 4 more: AY036912, AK074229, AK298380
>3 UniProt links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 UniProt links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 Interpro links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 Prodom links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 Pfam links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 PIRSF links 1 more: Q8WWY8, B4DPK4, A2IBA8
>3 SUPERFAM links 1 more: Q8WWY8, B4DPK4, A2IBA8
1 EntrezGene : 200879
1 SNP : 200879
1 UniGene : 68864
1 HUGO HGNC : 18483
2 OMIM : 607365, 604379
1 Ensembl : ENSG00000163898
Sequence
Graphical view for this peptide sequence: human-LIPH
Colored MSA for Phospholipase (raw)
MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKN
LTCAQTINSSAFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVED
MNVVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYM
IGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQF
VDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQR
SVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIK
LRDKAGNTTESKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGS
LIGPRYKLRILRMKLRSLAHPERPQLCRYDLVLMENVETVFQPILCPELQ
L
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

MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLMLYTRKN
LTCAQTINSSAFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVED
MNVVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYM
IGVSLGAHISGFVGEMYDGWLGRITGLDPAGPLFNGKPHQDRLDPSDAQF
VDVIHSDTDALGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQR
SVYLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYAD
NWKDHLRGKDPPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIK
LRDKAGNTTESKINHEPTTFQKYHQVSLLARFNQDLDKVAAISLMFSTGS
LIGPRYKLRILRMKLRSLAHPERPQLCRYDLVLMENVETVFQPILCPELQ
L


References
44 more
    Title: Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH
    Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S and Rogaev EI <1 more author(s)>
    Ref: Science, 314:982, 2006 : PubMed

            

    Title: Lipase H, a new member of the triglyceride lipase family synthesized by the intestine
    Jin W, Broedl UC, Monajemi H, Glick JM, Rader DJ
    Ref: Genomics, 80:268, 2002 : PubMed

            

    Title: A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid
    Sonoda H, Aoki J, Hiramatsu T, Ishida M, Bandoh K, Nagai Y, Taguchi R, Inoue K, Arai H
    Ref: Journal of Biological Chemistry, 277:34254, 2002 : PubMed

            


Other Papers


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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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