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Aliases for LIPH Gene

Aliases for LIPH Gene

  • Lipase H 2 3 5
  • Membrane-Associated Phosphatidic Acid-Selective Phospholipase A1-Alpha 3 4
  • LPD Lipase-Related Protein 3 4
  • Phospholipase A1 Member B 3 4
  • Phospholipase A(1) 2 3
  • Lipase, Member H 2 3
  • MPA-PLA1 Alpha 3 4
  • LPDLR 3 4
  • PLA1B 3 4
  • Membrane-Bound Phosphatidic Acid-Selective Phospholipase A1 3
  • Lipase Member H 3
  • EC 3.1.1.3 56
  • EC 3.1.1.- 4
  • MPA-PLA1 3
  • EC 3.1.1 56
  • MPAPLA1 4
  • ARWH2 3
  • HYPT7 3
  • LAH2 3
  • AH 3

External Ids for LIPH Gene

Previous GeneCards Identifiers for LIPH Gene

  • GC03M182017
  • GC03M186408
  • GC03M186627
  • GC03M186546
  • GC03M186708
  • GC03M185224
  • GC03M182635

Summaries for LIPH Gene

Entrez Gene Summary for LIPH 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]

GeneCards Summary for LIPH Gene

LIPH (Lipase H) is a Protein Coding gene. Diseases associated with LIPH include Hypotrichosis 7 and Woolly Hair Syndrome. Among its related pathways are Metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is LIPI.

UniProtKB/Swiss-Prot for LIPH Gene

  • 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).

Gene Wiki entry for LIPH Gene

Additional gene information for LIPH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIPH Gene

Genomics for LIPH Gene

GeneHancer (GH) Regulatory Elements for LIPH Gene

Promoters and enhancers for LIPH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I185551 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 556.7 -2.8 -2812 8.4 HDGF PKNOX1 ARNT SIN3A ZNF2 ZNF207 ZNF143 FOS REST ZNF592 LIPH SENP2 TMEM41A VPS8
GH03I185548 Enhancer 1.2 Ensembl ENCODE dbSUPER 6.7 +2.8 2750 2.7 NFIB RFX5 EGR1 SCRT2 RCOR1 FOS ZNF280D USF2 CEBPB ZNF217 LIPH LOC105374254
GH03I185543 Enhancer 1 ENCODE dbSUPER 6.3 +6.8 6756 4.7 PKNOX1 FOXA2 BATF IRF4 RARA ZNF121 ATF7 ETV6 FOS BCLAF1 SENP2 LIPH LOC105374254
GH03I185511 Enhancer 0.5 ENCODE dbSUPER 12.1 +40.8 40790 1.2 HNF4A LIPH LOC105374254
GH03I185517 Enhancer 0.4 ENCODE dbSUPER 12.2 +34.7 34696 0.8 LIPH LOC105374254
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LIPH on UCSC Golden Path with GeneCards custom track

Genomic Locations for LIPH Gene

Genomic Locations for LIPH Gene
chr3:185,506,262-185,552,655
(GRCh38/hg38)
Size:
46,394 bases
Orientation:
Minus strand
chr3:185,224,050-185,270,401
(GRCh37/hg19)

Genomic View for LIPH Gene

Genes around LIPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIPH Gene

Proteins for LIPH Gene

  • Protein details for LIPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWY8-LIPH_HUMAN
    Recommended name:
    Lipase member H
    Protein Accession:
    Q8WWY8
    Secondary Accessions:
    • A2IBA7
    • Q8TEC7

    Protein attributes for LIPH Gene

    Size:
    451 amino acids
    Molecular mass:
    50859 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB85023.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for LIPH Gene

Selected DME Specific Peptides for LIPH Gene

Q8WWY8:
  • RLDPSDA
  • RPTGSPPVW
  • YFKCDHQ
  • GRITGLD
  • DFYPNGG
  • GLDPAGP
  • GVSLGAH

Post-translational modifications for LIPH Gene

  • Glycosylation at posLast=5050, isoforms=66, and isoforms=357

Domains & Families for LIPH Gene

Gene Families for LIPH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LIPH Gene

Suggested Antigen Peptide Sequences for LIPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WWY8

UniProtKB/Swiss-Prot:

LIPH_HUMAN :
  • Belongs to the AB hydrolase superfamily. Lipase family.
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LIPH: view

Function for LIPH Gene

Molecular function for LIPH Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by sodium vanadate.
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for LIPH Gene

Gene Ontology (GO) - Molecular Function for LIPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity TAS --
GO:0008201 heparin binding IDA,IEA 12963729
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with LIPH: view
genes like me logo Genes that share phenotypes with LIPH: view

Human Phenotype Ontology for LIPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIPH Gene

MGI Knock Outs for LIPH:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for LIPH Gene

Localization for LIPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIPH Gene

Secreted. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LIPH gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LIPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 12963729
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LIPH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LIPH Gene

Pathways & Interactions for LIPH Gene

genes like me logo Genes that share pathways with LIPH: view

SIGNOR curated interactions for LIPH Gene

Activates:

Gene Ontology (GO) - Biological Process for LIPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0016042 lipid catabolic process IDA,IEA 12963729
genes like me logo Genes that share ontologies with LIPH: view

Drugs & Compounds for LIPH Gene

(24) Additional Compounds for LIPH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with LIPH: view

Transcripts for LIPH Gene

Unigene Clusters for LIPH Gene

Lipase, member H:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LIPH Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: -
SP2: - - - -
SP3:
SP4: -

Relevant External Links for LIPH Gene

GeneLoc Exon Structure for
LIPH
ECgene alternative splicing isoforms for
LIPH

Expression for LIPH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LIPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LIPH Gene

This gene is overexpressed in Colon - Transverse (x9.3), Stomach (x7.3), Esophagus - Mucosa (x5.3), and Minor Salivary Gland (x5.2).

Protein differential expression in normal tissues from HIPED for LIPH Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LIPH Gene



Protein tissue co-expression partners for LIPH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LIPH Gene:

LIPH

SOURCE GeneReport for Unigene cluster for LIPH Gene:

Hs.68864

mRNA Expression by UniProt/SwissProt for LIPH Gene:

Q8WWY8-LIPH_HUMAN
Tissue specificity: 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.

Evidence on tissue expression from TISSUES for LIPH Gene

  • Intestine(4.4)
  • Lung(4.2)
  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LIPH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with LIPH: view

Orthologs for LIPH Gene

This gene was present in the common ancestor of animals.

Orthologs for LIPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIPH 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia LIPH 33 34
  • 88.32 (n)
dog
(Canis familiaris)
Mammalia LIPH 33 34
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Liph 33
  • 81.23 (n)
mouse
(Mus musculus)
Mammalia Liph 16 34 33
  • 80.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LIPH 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIPI 33
  • 66.37 (n)
LIPH 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia liph 33
  • 63.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68721 33
zebrafish
(Danio rerio)
Actinopterygii zgc:91985 33 34
  • 55.94 (n)
lipi 34
  • 48 (a)
ManyToMany
wufb08f08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12174 33
fruit fly
(Drosophila melanogaster)
Insecta CG10357 34
  • 29 (a)
ManyToMany
CG6472 34
  • 27 (a)
ManyToMany
CG34448 34
  • 26 (a)
ManyToMany
CG6271 34
  • 26 (a)
ManyToMany
CG17192 34
  • 25 (a)
ManyToMany
CG1986 34
  • 25 (a)
ManyToMany
CG34447 34
  • 25 (a)
ManyToMany
CG6277 34
  • 25 (a)
ManyToMany
CG6283 34
  • 25 (a)
ManyToMany
CG6295 34
  • 25 (a)
ManyToMany
CG10116 34
  • 25 (a)
ManyToMany
CG14034 34
  • 24 (a)
ManyToMany
CG17191 34
  • 23 (a)
ManyToMany
CG13282 34
  • 22 (a)
ManyToMany
CG17292 34
  • 22 (a)
ManyToMany
CG18641 34
  • 22 (a)
ManyToMany
CG7367 34
  • 22 (a)
ManyToMany
sxe2 34
  • 22 (a)
ManyToMany
CG4267 34
  • 21 (a)
ManyToMany
CG6431 34
  • 21 (a)
ManyToMany
CG5162 34
  • 20 (a)
ManyToMany
CG5665 34
  • 20 (a)
ManyToMany
CG6675 34
  • 20 (a)
ManyToMany
CG4582 34
  • 19 (a)
ManyToMany
CG18258 34
  • 16 (a)
ManyToMany
Yp3 34
  • 16 (a)
ManyToMany
Yp1 34
  • 15 (a)
ManyToMany
CG6296 34
  • 14 (a)
ManyToMany
CG6847 34
  • 14 (a)
ManyToMany
Yp2 34
  • 14 (a)
ManyToMany
Species where no ortholog for LIPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LIPH Gene

ENSEMBL:
Gene Tree for LIPH (if available)
TreeFam:
Gene Tree for LIPH (if available)

Paralogs for LIPH Gene

Paralogs for LIPH Gene

(9) SIMAP similar genes for LIPH Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with LIPH: view

Variants for LIPH Gene

Sequence variations from dbSNP and Humsavar for LIPH Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs201249971 likely-pathogenic, Hypotrichosis 7 185,519,292(-) A/T coding_sequence_variant, missense_variant
rs201868115 pathogenic, Woolly hair, autosomal recessive 2, with or without hypotrichosis 185,519,286(-) G/T coding_sequence_variant, missense_variant
rs267607219 pathogenic, Woolly hair, autosomal recessive 2, with or without hypotrichosis, Hypotrichosis 7 (HYPT7) [MIM:604379], Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379] 185,534,860(-) A/G coding_sequence_variant, missense_variant
rs760309219 pathogenic, not provided 185,519,239(-) G/ coding_sequence_variant, stop_gained
rs768448663 pathogenic, not provided 185,534,854(-) G/A coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for LIPH Gene

Variant ID Type Subtype PubMed ID
esv1283224 CNV insertion 17803354
esv275409 CNV loss 21479260
nsv1117358 CNV tandem duplication 24896259
nsv1129706 CNV tandem duplication 24896259
nsv237078 CNV deletion 16902084
nsv472241 CNV novel sequence insertion 20440878
nsv829818 CNV loss 17160897

Variation tolerance for LIPH Gene

Residual Variation Intolerance Score: 28.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.27; 40.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LIPH Gene

Human Gene Mutation Database (HGMD)
LIPH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIPH Gene

Disorders for LIPH Gene

MalaCards: The human disease database

(10) MalaCards diseases for LIPH Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 7
  • hypt7
woolly hair syndrome
  • familial woolly hair
hypotrichosis simplex
  • hhs
telogen effluvium
hypotrichosis
- elite association - COSMIC cancer census association via MalaCards
Search LIPH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LIPH_HUMAN
  • Hypotrichosis 7 (HYPT7) [MIM:604379]: A 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. {ECO:0000269 PubMed:17095700, ECO:0000269 PubMed:19167195}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379]: A 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. {ECO:0000269 PubMed:18830268}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LIPH

genes like me logo Genes that share disorders with LIPH: view

No data available for Genatlas for LIPH Gene

Publications for LIPH Gene

  1. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. (PMID: 12063250) Sonoda H … Arai H (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Lipase H, a new member of the triglyceride lipase family synthesized by the intestine. (PMID: 12213196) Jin W … Rader DJ (Genomics 2002) 2 3 4 22 58
  3. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (PMID: 18830268) Shimomura Y … Christiano AM (The Journal of investigative dermatology 2009) 3 4 22 58
  4. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (PMID: 19167195) Naz G … Ahmad W (Journal of dermatological science 2009) 3 4 22 58
  5. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. (PMID: 17095700) Kazantseva A … Rogaev EI (Science (New York, N.Y.) 2006) 3 4 22 58

Products for LIPH Gene

Sources for LIPH Gene

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