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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 61
  • EC 3.1.1.- 4
  • MPA-PLA1 3
  • EC 3.1.1 61
  • 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 Hypotrichosis Simplex. Among its related pathways are Lipoprotein metabolism and Metabolism. 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

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

Genomics for LIPH Gene

Regulatory Elements for LIPH Gene

Enhancers for LIPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G185551 1.6 Ensembl ENCODE dbSUPER 6.7 -2.8 -2813 8.4 HDGF PKNOX1 FOXA2 ARNT WRNIP1 SIN3A ZNF2 ZNF143 ZNF207 FOS SENP2 TMEM41A LIPH VPS8
GH03G185548 1.5 Ensembl ENCODE dbSUPER 6.6 +2.8 2751 2.7 ZNF766 ELK1 FOS CAVIN1 REST TBX21 MEF2D CREB3 MAFF RCOR2 LIPH LOC105374254
GH03G185517 0.7 ENCODE dbSUPER 12.2 +34.7 34697 0.8 ATF3 FOS NFE2 LIPH LOC105374254
GH03G185511 0.6 ENCODE dbSUPER 12.1 +40.8 40791 1.2 HNF4A LIPH LOC105374254
GH03G185543 1.1 ENCODE dbSUPER 6.3 +6.8 6756 4.7 TBP PKNOX1 FOXA2 RARA ZNF121 FOS RELB ETV6 IKZF2 CREM SENP2 LIPH LOC105374254
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LIPH on UCSC Golden Path with GeneCards custom track

Genomic Location for LIPH Gene

Chromosome:
3
Start:
185,506,262 bp from pter
End:
185,552,655 bp from pter
Size:
46,394 bases
Orientation:
Minus strand

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 Asn50, Asn66, and Asn357
  • Modification sites at PhosphoSitePlus

Domains & Families for LIPH Gene

Gene Families 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 :
  • 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

  • Taconic Biosciences Mouse Models for LIPH

CRISPR Products

miRNA for LIPH Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

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
GO:0044241 lipid digestion TAS --
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
LPA(0:0/16:0)
  • 2-Hexadecanoyl-phosphatidic acid
  • 2-Palmitoyl-glycero-3-phosphate
  • LPA(0:0/16:0)
  • LPA(16:0)
  • Lysophosphatidic acid(0:0/16:0)
LPA(0:0/18:0)
  • 2-Octadecanoyl-phosphatidic acid
  • 2-Stearoyl-glycero-3-phosphate
  • LPA(0:0/18:0)
  • LPA(18:0)
  • Lysophosphatidic acid(0:0/18:0)
LPA(0:0/18:1(9Z))
  • 2-(9Z-Octadecenoyl)-phosphatidic acid
  • 2-Oleoyl-glycero-3-phosphate
  • LPA(0:0/18:1)
  • LPA(0:0/18:1n9)
  • LPA(0:0/18:1w9)
LPA(0:0/18:2(9Z,12Z))
  • 2-(9Z,12Z-Octadecadienoyl)-phosphatidic acid
  • 2-Linoleoyl-glycero-3-phosphate
  • LPA(0:0/18:2)
  • LPA(0:0/18:2n6)
  • LPA(0:0/18:2w6)
LPA(16:0/0:0)
  • 1-Hexadecanoyl-phosphatidic acid
  • 1-Palmitoyl lysophosphatidate
  • 1-Palmitoyl lysophosphatidic acid
  • 1-Palmitoyl-glycero-3-phosphate
  • 1-Palmitoylglycerol 3-phosphate
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

Clone Products

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 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

Primer 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 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia LIPH 34 35
  • 88.32 (n)
dog
(Canis familiaris)
Mammalia LIPH 34 35
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Liph 34
  • 81.23 (n)
mouse
(Mus musculus)
Mammalia Liph 34 16 35
  • 80.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LIPH 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves LIPI 34
  • 66.37 (n)
LIPH 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia liph 34
  • 63.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68721 34
zebrafish
(Danio rerio)
Actinopterygii zgc:91985 35 34
  • 55.94 (n)
ManyToMany
lipi 35
  • 48 (a)
ManyToMany
wufb08f08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12174 34
fruit fly
(Drosophila melanogaster)
Insecta CG10357 35
  • 29 (a)
ManyToMany
CG6472 35
  • 27 (a)
ManyToMany
CG34448 35
  • 26 (a)
ManyToMany
CG6271 35
  • 26 (a)
ManyToMany
CG10116 35
  • 25 (a)
ManyToMany
CG17192 35
  • 25 (a)
ManyToMany
CG1986 35
  • 25 (a)
ManyToMany
CG34447 35
  • 25 (a)
ManyToMany
CG6277 35
  • 25 (a)
ManyToMany
CG6283 35
  • 25 (a)
ManyToMany
CG6295 35
  • 25 (a)
ManyToMany
CG14034 35
  • 24 (a)
ManyToMany
CG17191 35
  • 23 (a)
ManyToMany
CG13282 35
  • 22 (a)
ManyToMany
CG17292 35
  • 22 (a)
ManyToMany
CG18641 35
  • 22 (a)
ManyToMany
CG7367 35
  • 22 (a)
ManyToMany
sxe2 35
  • 22 (a)
ManyToMany
CG4267 35
  • 21 (a)
ManyToMany
CG6431 35
  • 21 (a)
ManyToMany
CG5162 35
  • 20 (a)
ManyToMany
CG5665 35
  • 20 (a)
ManyToMany
CG6675 35
  • 20 (a)
ManyToMany
CG4582 35
  • 19 (a)
ManyToMany
CG18258 35
  • 16 (a)
ManyToMany
Yp3 35
  • 16 (a)
ManyToMany
Yp1 35
  • 15 (a)
ManyToMany
CG6296 35
  • 14 (a)
ManyToMany
CG6847 35
  • 14 (a)
ManyToMany
Yp2 35
  • 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 Sequence Context AA Info Type
rs267607219 Pathogenic, Hypotrichosis 7 (HYPT7) [MIM:604379], Woolly hair autosomal recessive 2 (ARWH2) [MIM:604379] 185,534,860(-) TTGAT(C/T)GGAAT reference, missense
rs201868115 Pathogenic 185,519,286(+) CTGGT(G/T)GTCAC reference, missense
rs760309219 Pathogenic 185,519,239(+) ATGGT(-/G)CAGCT reference, frameshift-variant
rs768448663 Pathogenic 185,534,854(+) TCCTC(A/G)ATTCC reference, stop-gained
rs533334084 Likely benign 185,511,657(+) TGCAA(A/G)TAGAC reference, missense

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)

Relevant External Links 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

(11) MalaCards diseases for LIPH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 7
  • woolly hair, autosomal recessive 2 with or without hypotrichosis
hypotrichosis simplex
  • hhs
woolly hair syndrome
  • familial woolly hair
telogen effluvium
woolly hair, autosomal recessive
- 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.

Relevant External Links for LIPH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 2002) 2 3 4 22 64
  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 22 64
  3. 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 22 64
  4. 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 22 64
  5. 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 22 64

Products for LIPH Gene

Sources for LIPH Gene

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