UniProtKB - Q8WWY8 (LIPH_HUMAN)
Protein
Lipase member H
Gene
LIPH
Organism
Homo sapiens (Human)
Status
Functioni
Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).2 Publications
Catalytic activityi
- 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H+ + hexadecanoate1 PublicationThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
Inhibited by sodium vanadate.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 154 | Nucleophile | 1 | |
Active sitei | 178 | Charge relay systemBy similarity | 1 | |
Active sitei | 248 | Charge relay systemBy similarity | 1 |
GO - Molecular functioni
- heparin binding Source: UniProtKB
- lipase activity Source: GO_Central
- lipoprotein lipase activity Source: GO_Central
- phospholipase activity Source: UniProtKB
GO - Biological processi
- fatty acid biosynthetic process Source: GO_Central
- lipid catabolic process Source: UniProtKB
- phosphatidic acid biosynthetic process Source: Reactome
- triglyceride catabolic process Source: GO_Central
Keywordsi
Molecular function | Heparin-binding, Hydrolase |
Biological process | Lipid degradation, Lipid metabolism |
Enzyme and pathway databases
BRENDAi | 3.1.1.32, 2681 |
PathwayCommonsi | Q8WWY8 |
Reactomei | R-HSA-1483166, Synthesis of PA |
SIGNORi | Q8WWY8 |
Protein family/group databases
ESTHERi | human-LIPH, Phospholipase |
Chemistry databases
SwissLipidsi | SLP:000000625 |
Names & Taxonomyi
Protein namesi | Recommended name: Lipase member H (EC:3.1.1.-1 Publication)Short name: LIPH Alternative name(s): LPD lipase-related protein Membrane-associated phosphatidic acid-selective phospholipase A1-alpha Short name: mPA-PLA1 alpha Phospholipase A1 member B |
Gene namesi | Name:LIPH Synonyms:LPDLR, MPAPLA1, PLA1B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18483, LIPH |
MIMi | 607365, gene |
neXtProti | NX_Q8WWY8 |
VEuPathDBi | HostDB:ENSG00000163898.9 |
Subcellular locationi
Plasma membrane
- Cell membrane 2 Publications; Peripheral membrane protein
Extracellular region or secreted
- Secreted 1 Publication
Extracellular region or secreted
- extracellular space Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Involvement in diseasei
Hypotrichosis 7 (HYPT7)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059050 | 108 | W → R in HYPT7 and ARWH2. 2 PublicationsCorresponds to variant dbSNP:rs267607219EnsemblClinVar. | 1 | |
Natural variantiVAR_030125 | 172 – 205 | Missing in HYPT7. 1 PublicationAdd BLAST | 34 |
Woolly hair autosomal recessive 2 (ARWH2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059050 | 108 | W → R in HYPT7 and ARWH2. 2 PublicationsCorresponds to variant dbSNP:rs267607219EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 154 | S → A: Loss of lipase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, HypotrichosisOrganism-specific databases
DisGeNETi | 200879 |
MalaCardsi | LIPH |
MIMi | 604379, phenotype |
OpenTargetsi | ENSG00000163898 |
Orphaneti | 55654, Hypotrichosis simplex 170, Woolly hair |
PharmGKBi | PA134934352 |
Miscellaneous databases
Pharosi | Q8WWY8, Tbio |
Genetic variation databases
BioMutai | LIPH |
DMDMi | 74762634 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000273321 | 19 – 451 | Lipase member HAdd BLAST | 433 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 50 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 66 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 233 ↔ 246 | By similarity | ||
Disulfide bondi | 270 ↔ 281 | By similarity | ||
Disulfide bondi | 284 ↔ 292 | By similarity | ||
Glycosylationi | 357 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 427 ↔ 446 | By similarity |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q8WWY8 |
MassIVEi | Q8WWY8 |
PaxDbi | Q8WWY8 |
PeptideAtlasi | Q8WWY8 |
PRIDEi | Q8WWY8 |
ProteomicsDBi | 74960 |
PTM databases
GlyGeni | Q8WWY8, 3 sites |
iPTMneti | Q8WWY8 |
PhosphoSitePlusi | Q8WWY8 |
Expressioni
Tissue specificityi
Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas, ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In hair, it is prominently expressed in hair follicles, including the stem cell-rich bulge region.4 Publications
Gene expression databases
Bgeei | ENSG00000163898, Expressed in stomach and 145 other tissues |
ExpressionAtlasi | Q8WWY8, baseline and differential |
Genevisiblei | Q8WWY8, HS |
Organism-specific databases
HPAi | ENSG00000163898, Tissue enhanced (intestine, lung, stomach) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 128352, 54 interactors |
IntActi | Q8WWY8, 26 interactors |
STRINGi | 9606.ENSP00000296252 |
Miscellaneous databases
RNActi | Q8WWY8, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502QUQT, Eukaryota |
GeneTreei | ENSGT00940000156285 |
HOGENOMi | CLU_027171_3_0_1 |
InParanoidi | Q8WWY8 |
OMAi | GMQYFKC |
OrthoDBi | 534956at2759 |
PhylomeDBi | Q8WWY8 |
TreeFami | TF324997 |
Family and domain databases
CDDi | cd00707, Pancreat_lipase_like, 1 hit |
Gene3Di | 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR013818, Lipase/vitellogenin IPR016272, Lipase_LIPH IPR033906, Lipase_N IPR000734, TAG_lipase |
PANTHERi | PTHR11610, PTHR11610, 1 hit |
Pfami | View protein in Pfam PF00151, Lipase, 1 hit |
PIRSFi | PIRSF000865, Lipoprotein_lipase_LIPH, 1 hit |
PRINTSi | PR00821, TAGLIPASE |
SUPFAMi | SSF53474, SSF53474, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q8WWY8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLRFYLFISL LCLSRSDAEE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN
60 70 80 90 100
LTCAQTINSS AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED
110 120 130 140 150
MNVVVVDWNR GATTLIYTHA SSKTRKVAMV LKEFIDQMLA EGASLDDIYM
160 170 180 190 200
IGVSLGAHIS GFVGEMYDGW LGRITGLDPA GPLFNGKPHQ DRLDPSDAQF
210 220 230 240 250
VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG FQYFKCDHQR
260 270 280 290 300
SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD
310 320 330 340 350
NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK
360 370 380 390 400
LRDKAGNTTE SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS
410 420 430 440 450
LIGPRYKLRI LRMKLRSLAH PERPQLCRYD LVLMENVETV FQPILCPELQ
L
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA2IBA6 | A2IBA6_HUMAN | Lipase member H | LIPH | 417 | Annotation score: | ||
H7C2X1 | H7C2X1_HUMAN | Lipase member H | LIPH | 85 | Annotation score: | ||
H7BZL3 | H7BZL3_HUMAN | Lipase member H | LIPH | 73 | Annotation score: | ||
F8WE09 | F8WE09_HUMAN | Lipase member H | LIPH | 47 | Annotation score: |
Sequence cautioni
The sequence BAB85023 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059050 | 108 | W → R in HYPT7 and ARWH2. 2 PublicationsCorresponds to variant dbSNP:rs267607219EnsemblClinVar. | 1 | |
Natural variantiVAR_030125 | 172 – 205 | Missing in HYPT7. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY036912 mRNA Translation: AAK63178.1 AY093498 mRNA Translation: AAM18803.1 EF186229 mRNA Translation: ABM67095.1 AK074229 mRNA Translation: BAB85023.1 Different initiation. AK122651 mRNA Translation: BAG53642.1 CH471052 Genomic DNA Translation: EAW78218.1 BC064941 mRNA Translation: AAH64941.1 |
CCDSi | CCDS3272.1 |
RefSeqi | NP_640341.1, NM_139248.2 |
Genome annotation databases
Ensembli | ENST00000296252; ENSP00000296252; ENSG00000163898 |
GeneIDi | 200879 |
KEGGi | hsa:200879 |
UCSCi | uc003fpm.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY036912 mRNA Translation: AAK63178.1 AY093498 mRNA Translation: AAM18803.1 EF186229 mRNA Translation: ABM67095.1 AK074229 mRNA Translation: BAB85023.1 Different initiation. AK122651 mRNA Translation: BAG53642.1 CH471052 Genomic DNA Translation: EAW78218.1 BC064941 mRNA Translation: AAH64941.1 |
CCDSi | CCDS3272.1 |
RefSeqi | NP_640341.1, NM_139248.2 |
3D structure databases
SMRi | Q8WWY8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128352, 54 interactors |
IntActi | Q8WWY8, 26 interactors |
STRINGi | 9606.ENSP00000296252 |
Chemistry databases
SwissLipidsi | SLP:000000625 |
Protein family/group databases
ESTHERi | human-LIPH, Phospholipase |
PTM databases
GlyGeni | Q8WWY8, 3 sites |
iPTMneti | Q8WWY8 |
PhosphoSitePlusi | Q8WWY8 |
Genetic variation databases
BioMutai | LIPH |
DMDMi | 74762634 |
Proteomic databases
EPDi | Q8WWY8 |
MassIVEi | Q8WWY8 |
PaxDbi | Q8WWY8 |
PeptideAtlasi | Q8WWY8 |
PRIDEi | Q8WWY8 |
ProteomicsDBi | 74960 |
Protocols and materials databases
Antibodypediai | 33838, 79 antibodies |
DNASUi | 200879 |
Genome annotation databases
Ensembli | ENST00000296252; ENSP00000296252; ENSG00000163898 |
GeneIDi | 200879 |
KEGGi | hsa:200879 |
UCSCi | uc003fpm.4, human |
Organism-specific databases
CTDi | 200879 |
DisGeNETi | 200879 |
GeneCardsi | LIPH |
HGNCi | HGNC:18483, LIPH |
HPAi | ENSG00000163898, Tissue enhanced (intestine, lung, stomach) |
MalaCardsi | LIPH |
MIMi | 604379, phenotype 607365, gene |
neXtProti | NX_Q8WWY8 |
OpenTargetsi | ENSG00000163898 |
Orphaneti | 55654, Hypotrichosis simplex 170, Woolly hair |
PharmGKBi | PA134934352 |
VEuPathDBi | HostDB:ENSG00000163898.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QUQT, Eukaryota |
GeneTreei | ENSGT00940000156285 |
HOGENOMi | CLU_027171_3_0_1 |
InParanoidi | Q8WWY8 |
OMAi | GMQYFKC |
OrthoDBi | 534956at2759 |
PhylomeDBi | Q8WWY8 |
TreeFami | TF324997 |
Enzyme and pathway databases
BRENDAi | 3.1.1.32, 2681 |
PathwayCommonsi | Q8WWY8 |
Reactomei | R-HSA-1483166, Synthesis of PA |
SIGNORi | Q8WWY8 |
Miscellaneous databases
BioGRID-ORCSi | 200879, 5 hits in 874 CRISPR screens |
ChiTaRSi | LIPH, human |
GeneWikii | LIPH |
GenomeRNAii | 200879 |
Pharosi | Q8WWY8, Tbio |
PROi | PR:Q8WWY8 |
RNActi | Q8WWY8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163898, Expressed in stomach and 145 other tissues |
ExpressionAtlasi | Q8WWY8, baseline and differential |
Genevisiblei | Q8WWY8, HS |
Family and domain databases
CDDi | cd00707, Pancreat_lipase_like, 1 hit |
Gene3Di | 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR013818, Lipase/vitellogenin IPR016272, Lipase_LIPH IPR033906, Lipase_N IPR000734, TAG_lipase |
PANTHERi | PTHR11610, PTHR11610, 1 hit |
Pfami | View protein in Pfam PF00151, Lipase, 1 hit |
PIRSFi | PIRSF000865, Lipoprotein_lipase_LIPH, 1 hit |
PRINTSi | PR00821, TAGLIPASE |
SUPFAMi | SSF53474, SSF53474, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LIPH_HUMAN | |
Accessioni | Q8WWY8Primary (citable) accession number: Q8WWY8 Secondary accession number(s): A2IBA7, Q8TEC7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2007 |
Last sequence update: | March 1, 2002 | |
Last modified: | February 10, 2021 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families