human-LIPC

 
Homo sapiens (Human) LIPC hepatic triacylglycerol lipase HTGL

Comment
LIPC, which is synthesized in liver, is secreted and bound to hepatocytes and hepatic endothelial surfaces via heparin sulfate proteoglycans (HSPGs). Active LIPC exists as a homodimer and has broad substrate specificity, catalyzing the hydrolysis of fatty acyl chains at the sn-1 position of phospholipids and of mono-, di-, and triacylglycerols associated with a variety of lipoproteins, including high density lipoprotein (HDL). LIPC may also facilitate binding and uptake of lipoproteins and selective uptake of cholesteryl esters from lipoproteins (summary by Brown et al., 2004). (from OMIM) A Deficiency of HL is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Familial human hepatic lipase deficiency is a rare recessive disorder that results from mutations of the mature protein. The disease is characterised by premature atherosclerosis and abnormal circulating lipoproteins. One mutation (E97G) gives a gain of function phenotype and a different syndrome Hypobetalipoproteinemia


Relationship
Block L
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> 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
16 mutations: Table (ordered Natural and SD mutagenesis) (e.g. : E97G_human-LIPC, Prom-514T_human-LIPC, T405M_human-LIPC ... more)
No structure
No kinetic
Disease: Hypobetalipoproteinemia Familial 2 - Hepatic triglyceride lipase Deficiency -


>3 Genbank links 26 more: J03895, J03895, X07228
>3 UniProt links 4 more: P11150, A6H8L5, B4DDT1
1 Ncbi-nid : 339594
1 Ncbi-pid : 339595
>3 UniProtTrembl links 4 more: P11150, A6H8L5, B4DDT1
>3 Interpro links 4 more: P11150, A6H8L5, B4DDT1
>3 Prodom links 4 more: P11150, A6H8L5, B4DDT1
>3 Pfam links 4 more: P11150, A6H8L5, B4DDT1
>3 PIRSF links 4 more: P11150, A6H8L5, B4DDT1
>3 SUPERFAM links 4 more: P11150, A6H8L5, B4DDT1
>3 QuickSwissBlast links 4 more: P11150, A6H8L5, B4DDT1
1 EntrezGene : 3990
1 SNP : 3990
1 UniGene : 654472
1 HUGO HGNC : 6619
3 OMIM : 151670, 246650, 605019
1 Ensembl : ENSG00000166035
 
Sequence
Graphical view for this peptide sequence: human-LIPC
Colored MSA for Hepatic_Lipase (raw)
MDTSPLCFSILLVLCIFIQSSALGQSLKPEPFGRRAQAVETNKTLHEMKT
RFLLFGETNQGCQIRINHPDTLQECGFNSSLPLVMIIHGWSVDGVLENWI
WQMVAALKSQPAQPVNVGLVDWITLAHDHYTIAVRNTRLVGKEVAALLRW
LEESVQLSRSHVHLIGYSLGAHVSGFAGSSIGGTHKIGRITGLDAAGPLF
EGSAPSNRLSPDDANFVDAIHTFTREHMGLSVGIKQPIGHYDFYPNGGSF
QPGCHFLELYRHIAQHGFNAITQTIKCSHERSVHLFIDSLLHAGTQSMAY
PCGDMNSFSQGLCLSCKKGRCNTLGYHVRQEPRSKSKRLFLVTRAQSPFK
VYHYQLKIQFINQTETPIQTTFTMSLLGTKEKMQKIPITLGKGIASNKTY
SFLITLDVDIGELIMIKFKWENSAVWANVWDTVQTIIPWSTGPRHSGLVL
KTIRVKAGETQQRMTFCSENTDDLLLRPTQEKIFVKCEIKSKTSKRKIR
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

MDTSPLCFSILLVLCIFIQSSALGQSLKPEPFGRRAQAVETNKTLHEMKT
RFLLFGETNQGCQIRINHPDTLQECGFNSSLPLVMIIHGWSVDGVLENWI
WQMVAALKSQPAQPVNVGLVDWITLAHDHYTIAVRNTRLVGKEVAALLRW
LEESVQLSRSHVHLIGYSLGAHVSGFAGSSIGGTHKIGRITGLDAAGPLF
EGSAPSNRLSPDDANFVDAIHTFTREHMGLSVGIKQPIGHYDFYPNGGSF
QPGCHFLELYRHIAQHGFNAITQTIKCSHERSVHLFIDSLLHAGTQSMAY
PCGDMNSFSQGLCLSCKKGRCNTLGYHVRQEPRSKSKRLFLVTRAQSPFK
VYHYQLKIQFINQTETPIQTTFTMSLLGTKEKMQKIPITLGKGIASNKTY
SFLITLDVDIGELIMIKFKWENSAVWANVWDTVQTIIPWSTGPRHSGLVL
KTIRVKAGETQQRMTFCSENTDDLLLRPTQEKIFVKCEIKSKTSKRKIR

Graphical view for this nucleotide DNA sequence (1597 bp): human-LIPC
>human-LIPC
ccgagaaatggacacaagtcccctgtgtttctccattctgttggttttat
gcatctttatccaatcaagtgcccttggacaaagcctgaaaccagagcca
tttggaagaagagctcaagctgttgaaacaaacaaaacgctgcatgagat
gaagaccagattcctgctctttggagaaaccaatcagggctgtcagattc
gaatcaatcatccggacacgttacaggagtgcggcttcaactcctccctg
cctctggtgatgataatccacgggtggtcggtggacggcgtgctagaaaa
ctggatctggcagatggtggccgcgctgaagtctcagccggcccagccag
tgaacgtggggctggtggactggatcaccctggcccacgaccactacacc
atcgccgtccgcaacacccgccttgtgggcaaggaggtcgcggctcttct
ccggtggctggaggaatctgtgcaactctctcgaagccatgttcacctaa
ttgggtacagcctgggtgcacacgtgtcaggatttgccggcagttccatc
ggtggaacgcacaagattgggagaatcacagggctggatgccgcgggacc
tttgtttgagggaagtgcccccagcaatcgtctttctccagatgatgcca
attttgtggatgccattcatacctttacgcgggagcacatgggcctgagc
gtgggcatcaaacagcccataggacactatgacttctatcccaacggggg
ctccttccagcctggctgccactccctagagctctacagacatattgccc
agcacggcttcaatgccatcacccagaccataaaatgctcccacgagcga
tcggtgcaccttttcatcgactccttgctgcacgccggcacgcagagcat
ggcctacccgtgtggtgacatgaacagcttcagccagggcctgtgcctga
gctgcaagaagggccgctgcaacacgctgggctaccacgtccgccaggag
ccgcggagcaagagcaagaggctcttcctcgtaacgcgagcccagtcccc
cttcaaagtttatcattaccagttaaagatccagttcatcaaccaaactg
agacgccaatacaaacaacttttaccatgtcactactcggaacaaaagag
aaaatgcagaaaattcccatcactctgggcaaaggaattgctagtaataa
aacgtattcctttcttatcacgctggatgtggatatcggcgagctgatca
tgatcaagttcaagtgggaaaacagtgcagtgtgggccaatgtctgggac
acggtccagaccatcatcccatggagcacagggccgcgccactcaggcct
cgttctgaagacgatcagagtcaaagcaggagaaacccagcaaagaatga
cattttgttcagaaaacacagatgacctactacttcgcccaacccaggaa
aaaatcttcgtgaaatgtgaaataaagtctaaaacatcaaagcgaaagat
cagatgagatttaatgaagacccagtgtaaagaataaatgaatcttactc
cct



References
39 more
    Title: Characterization of a peptide containing the major heparin binding domain of human hepatic lipase
    Coady BM, Marshall JD, Hattie LE, Brannan AM, Fitzpatrick MN, Hickey KE, Wallin S, Booth V, Brown RJ
    Ref: J Pept Sci, :e3123, 2018 : PubMed

            

    Title: The role of plasma lipoprotein lipase, hepatic lipase and GPIHBP1 in the metabolism of remnant lipoproteins and small dense LDL in patients with coronary artery disease
    Muraba Y, Koga T, Shimomura Y, Ito Y, Hirao Y, Kobayashi J, Kimura T, Nakajima K, Murakami M
    Ref: Clinica Chimica Acta, 476:146, 2017 : PubMed

            

    Title: 18 bp Insertion/Duplication With Internal Missense Mutation in Human Hepatic Lipase Gene Exon 3.
    Tiebel O, Gehrisch S, Pietzsch J, Gromeier S, Jaross W
    Ref: Hum Mutat, 12:216, 1998 : 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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