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Aliases for LIPH Gene

Aliases for LIPH Gene

  • Lipase, Member H 2 3
  • Membrane-Associated Phosphatidic Acid-Selective Phospholipase A1-Alpha 3 4
  • LPD Lipase-Related Protein 3 4
  • Phospholipase A1 Member B 3 4
  • MPA-PLA1 Alpha 3 4
  • ARWH2 3 6
  • LPDLR 3 4
  • PLA1B 3 4
  • LAH2 3 6
  • Membrane-Bound Phosphatidic Acid-Selective Phospholipase A1 3
  • Lipase Member H 3
  • EC 3.1.1.3 63
  • EC 3.1.1.- 4
  • Lipase H 3
  • MPA-PLA1 3
  • EC 3.1.1 63
  • MPAPLA1 4
  • HYPT7 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, Member H) is a Protein Coding gene. Diseases associated with LIPH include hypotrichosis 7 and hepatic lipase deficiency. GO annotations related to this gene include heparin binding and phospholipase activity. An important paralog of this gene is LPL.

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

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

Genomics for LIPH Gene

Genomic Location for LIPH Gene

Start:
185,506,262 bp from pter
End:
185,552,613 bp from pter
Size:
46,352 bases
Orientation:
Minus strand

Genomic View for LIPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LIPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIPH Gene

No data available for Regulatory Elements 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

Proteomics data for LIPH Gene at MOPED

Selected DME Specific Peptides for LIPH Gene

Post-translational modifications for LIPH Gene

  • Glycosylation at Asn50, Asn66, and Asn357
  • Modification sites at PhosphoSitePlus

Other Protein References for LIPH Gene

Domains for LIPH Gene

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 :
  • Q8WWY8
Family:
  • Belongs to the AB hydrolase superfamily. Lipase family.
genes like me logo Genes that share domains with LIPH: view

No data available for Gene Families for LIPH Gene

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 IDA 12963729
GO:0008201 heparin binding IDA 12963729
GO:0016787 hydrolase activity --
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with LIPH: view

Phenotypes for LIPH Gene

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

Animal Models for LIPH Gene

MGI Knock Outs for LIPH:

Animal Model Products

CRISPR Products

No data available for miRNA , Transcription Factor Targeting 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
Jensen Localization Image for LIPH Gene COMPARTMENTS Subcellular localization image for LIPH gene
Compartment Confidence
extracellular 5
plasma membrane 5
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LIPH Gene

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

Pathways for LIPH Gene

SuperPathways for LIPH Gene

No Data Available

Interacting Proteins for LIPH Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000296252%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000379865%0d%0a
Selected Interacting proteins: ENSP00000296252 for LIPH Gene via STRING

Gene Ontology (GO) - Biological Process for LIPH Gene

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

No data available for Pathways by source for LIPH Gene

Compounds for LIPH Gene

(23) HMDB Compounds for LIPH Gene

Compound Synonyms Cas Number PubMed IDs
LPA(0:0/16:0)
  • Lysophosphatidic acid(16:0)
Not Available
LPA(0:0/18:0)
  • 2-octadecanoyl-phosphatidic acid
Not Available
LPA(0:0/18:1(9Z))
  • LPA(18:1)
Not Available
LPA(0:0/18:2(9Z,12Z))
  • LPA(0:0/18:2n6)
Not Available
LPA(16:0/0:0)
  • Lysophosphatidic acid(16:0/0:0)
Not Available

(1) Novoseek inferred chemical compound relationships for LIPH Gene

Compound -log(P) Hits PubMed IDs
lipid 16 4
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LIPH

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 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 (9.3), Stomach (7.3), Esophagus - Mucosa (5.3), and Minor Salivary Gland (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LIPH Gene

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.
genes like me logo Genes that share expressions with LIPH: view

In Situ Assay Products

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 35
  • 99.48 (n)
  • 99.33 (a)
LIPH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LIPH 35
  • 88.32 (n)
  • 86.25 (a)
LIPH 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIPH 35
  • 87.66 (n)
  • 85.14 (a)
LIPH 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Liph 35
  • 80.93 (n)
  • 77.83 (a)
Liph 16
Liph 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIPH 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Liph 35
  • 81.23 (n)
  • 78.94 (a)
chicken
(Gallus gallus)
Aves LIPH 36
  • 62 (a)
OneToOne
LIPI 35
  • 66.37 (n)
  • 60.63 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68721 35
tropical clawed frog
(Silurana tropicalis)
Amphibia liph 35
  • 63.64 (n)
  • 62.08 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12174 35
zebrafish
(Danio rerio)
Actinopterygii lipi 36
  • 48 (a)
ManyToMany
wufb08f08 35
zgc:91985 35
  • 55.94 (n)
  • 50.46 (a)
zgc:91985 36
  • 48 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10116 36
  • 25 (a)
ManyToMany
CG10357 36
  • 29 (a)
ManyToMany
CG13282 36
  • 22 (a)
ManyToMany
CG14034 36
  • 24 (a)
ManyToMany
CG17191 36
  • 23 (a)
ManyToMany
CG17192 36
  • 25 (a)
ManyToMany
CG17292 36
  • 22 (a)
ManyToMany
CG18258 36
  • 16 (a)
ManyToMany
CG18641 36
  • 22 (a)
ManyToMany
CG1986 36
  • 25 (a)
ManyToMany
CG34447 36
  • 25 (a)
ManyToMany
CG34448 36
  • 26 (a)
ManyToMany
CG4267 36
  • 21 (a)
ManyToMany
CG4582 36
  • 19 (a)
ManyToMany
CG5162 36
  • 20 (a)
ManyToMany
CG5665 36
  • 20 (a)
ManyToMany
CG6271 36
  • 26 (a)
ManyToMany
CG6277 36
  • 25 (a)
ManyToMany
CG6283 36
  • 25 (a)
ManyToMany
CG6295 36
  • 25 (a)
ManyToMany
CG6296 36
  • 14 (a)
ManyToMany
CG6431 36
  • 21 (a)
ManyToMany
CG6472 36
  • 27 (a)
ManyToMany
CG6675 36
  • 20 (a)
ManyToMany
CG6847 36
  • 14 (a)
ManyToMany
CG7367 36
  • 22 (a)
ManyToMany
sxe2 36
  • 22 (a)
ManyToMany
Yp1 36
  • 15 (a)
ManyToMany
Yp2 36
  • 14 (a)
ManyToMany
Yp3 36
  • 16 (a)
ManyToMany
Species with no ortholog for LIPH:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs497680 -- 185,524,424(+) TGCAA(A/G)GCTAA intron-variant
rs505569 -- 185,518,327(-) actcc(A/C)gcctg intron-variant
rs507293 -- 185,537,189(+) CAAGC(C/T)TGCCA intron-variant
rs518909 -- 185,544,393(+) TTGTC(A/G)CCCAG intron-variant
rs519588 -- 185,544,410(+) gtgca(A/G)tggtg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829818 CNV Loss 17160897
esv1283224 CNV Insertion 17803354
nsv237078 CNV Loss 16902084
esv275409 CNV Loss 21479260

Relevant External Links for LIPH Gene

HapMap Linkage Disequilibrium report
LIPH
Human Gene Mutation Database (HGMD)
LIPH

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

Disorders for LIPH Gene

(1) OMIM Diseases for LIPH Gene (607365)

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.

(2) University of Copenhagen DISEASES for LIPH Gene

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

Publications for LIPH Gene

  1. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. (PMID: 12063250) Sonoda H. … Arai H. (J. Biol. Chem. 2002) 2 3 4 23
  2. Lipase h, a new member of the triglyceride lipase family synthesized by the intestine. (PMID: 12213196) Jin W. … Rader D. (Genomics 2002) 2 3 4 23
  3. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. (PMID: 17095700) Kazantseva A. … Rogaev E.I. (Science 2006) 3 4 23
  4. Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (PMID: 18830268) Shimomura Y. … Christiano A.M. (J. Invest. Dermatol. 2009) 3 4 23
  5. Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (PMID: 19167195) Naz G. … Ahmad W. (J. Dermatol. Sci. 2009) 3 4 23

Products for LIPH Gene

Sources for LIPH Gene

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