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Aliases for LIPH Gene

Aliases for LIPH Gene

  • Lipase H 2 3
  • Lipase, Member 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
  • MPA-PLA1 Alpha 3 4
  • LPDLR 3 4
  • PLA1B 3 4
  • Membrane-Bound Phosphatidic Acid-Selective Phospholipase A1 3
  • EC 3.1.1.3 63
  • EC 3.1.1.- 4
  • MPA-PLA1 3
  • EC 3.1.1 63
  • 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 hepatic lipase deficiency. 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 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

Regulatory Elements for LIPH Gene

Promoters for LIPH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for LIPH Gene at MOPED

Selected DME Specific Peptides for LIPH Gene

Post-translational modifications for LIPH Gene

  • Glycosylation at Asn 50, Asn 66, and Asn 357
  • Modification sites at PhosphoSitePlus

Other Protein References for LIPH Gene

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: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

miRNA for LIPH Gene

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
Jensen Localization Image for LIPH Gene COMPARTMENTS Subcellular localization image for LIPH gene
Compartment Confidence
extracellular 5
plasma membrane 5
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LIPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IDA,TAS --
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

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

SIGNOR curated interactions for LIPH Gene

Activates:

Gene Ontology (GO) - Biological Process for LIPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
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:

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 (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



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 expression patterns with LIPH: view

Protein tissue co-expression partners for LIPH Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia LIPH 35
  • 99.48 (n)
  • 99.33 (a)
LIPH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Liph 35
  • 81.23 (n)
  • 78.94 (a)
oppossum
(Monodelphis domestica)
Mammalia LIPH 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves LIPI 35
  • 66.37 (n)
  • 60.63 (a)
LIPH 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia liph 35
  • 63.64 (n)
  • 62.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68721 35
zebrafish
(Danio rerio)
Actinopterygii wufb08f08 35
zgc:91985 35
  • 55.94 (n)
  • 50.46 (a)
lipi 36
  • 48 (a)
ManyToMany
zgc:91985 36
  • 48 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12174 35
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

(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
VAR_059050 Hypotrichosis 7 (HYPT7)
VAR_059050 Woolly hair autosomal recessive 2 (ARWH2)
rs497680 -- 185,524,424(+) TGCAA(A/G)GCTAA intron-variant
rs536570 -- 185,538,108(+) GCCCT(A/G)CATAA intron-variant
rs505569 -- 185,518,327(-) actcc(A/C)gcctg 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

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

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypotrichosis 7
  • hypotrichosis 6
hepatic lipase deficiency
  • lipase, hepatic
woolly hair syndrome
  • familial woolly hair
hypotrichosis simplex
  • hhs
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
- 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. 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 67
  2. A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid. (PMID: 12063250) Sonoda H. … Arai H. (J. Biol. Chem. 2002) 2 3 23
  3. Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (PMID: 20213768) Shinkuma S. … Shimizu H. (Hum. Mutat. 2010) 3 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 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 23

Products for LIPH Gene

Sources for LIPH Gene

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