LIPH

Protein identityUniProt · HPA

UniProt accession

Q8WWY8

Gene

LIPH

Ensembl

ENSG00000163898

Chromosome

3

Canonical length

451 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>Q8WWY8|LIPH
     1  MLRFYLFISL LCLSRSDAEE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN LTCAQTINSS
    61  AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED MNVVVVDWNR GATTLIYTHA
   121  SSKTRKVAMV LKEFIDQMLA EGASLDDIYM IGVSLGAHIS GFVGEMYDGW LGRITGLDPA
   181  GPLFNGKPHQ DRLDPSDAQF VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG
   241  FQYFKCDHQR SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD
   301  NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK LRDKAGNTTE
   361  SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS LIGPRYKLRI LRMKLRSLAH
   421  PERPQLCRYD LVLMENVETV FQPILCPELQ L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIPH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

46 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIPH.

Disease | AllUniProt

Conditions LIPH is implicated in, by any mechanism.

• Hypotrichosis 7 (HYPT7) MIM:604379
• Woolly hair autosomal recessive 2 (ARWH2) MIM:604379

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 135 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypotrichosis 7
• Woolly hair, autosomal recessive 2, with or without hypotrichosis
• LIPH-related disorder
• Hypotrichosis simplex

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.21

gnomAD pLI

0

gnomAD missense Z

0.74

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lipid catabolic process
• phosphatidic acid biosynthetic process

Molecular functions

• carboxylic ester hydrolase activity
• heparin binding
• phospholipase activity

Cellular components

• extracellular space
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Triacylglycerol lipase family
• Lipase
• Lipase, LIPH-type
• Alpha/Beta hydrolase fold
• Lipase, N-terminal
• Lipase

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Glycoprotein
• Heparin-binding
• Hydrolase
• Hypotrichosis
• Lipid degradation
• Lipid metabolism
• Membrane
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of LIPH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TTMP