ENSG00000163898


Homo sapiens

Features
Gene ID: ENSG00000163898
  
Biological name :LIPH
  
Synonyms : lipase H / LIPH / Q8WWY8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: q27.2
Gene start: 185506262
Gene end: 185552613
  
Corresponding Affymetrix probe sets: 235871_at (Human Genome U133 Plus 2.0 Array)   241898_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000296252
Ensembl peptide - ENSP00000396384
Ensembl peptide - ENSP00000408218
Ensembl peptide - ENSP00000414311
Ensembl peptide - ENSP00000390228
NCBI entrez gene - 200879     See in Manteia.
OMIM - 607365
RefSeq - XM_017005852
RefSeq - NM_139248
RefSeq - XM_006713529
RefSeq - XM_011512530
RefSeq - XM_011512531
RefSeq Peptide - NP_640341
swissprot - Q8WWY8
swissprot - F8WE09
swissprot - H7BZL3
swissprot - H7C2X1
swissprot - A2IBA6
Ensembl - ENSG00000163898
  
Related genetic diseases (OMIM): 604379 - Hypotrichosis 7, 604379
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lipiaENSDARG00000007108Danio rerio
 lipibENSDARG00000005332Danio rerio
 LIPHENSGALG00000038601Gallus gallus
 LiphENSMUSG00000044626Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LIPI / Q6XZB0 / lipase IENSG0000018899245
PNLIP / P16233 / pancreatic lipaseENSG0000017553531
PNLIPRP2 / pancreatic lipase related protein 2 (gene/pseudogene)ENSG0000026620031
PLA1A / Q53H76 / phospholipase A1 member AENSG0000014483731
P54315 / PNLIPRP1 / pancreatic lipase related protein 1ENSG0000018702129
LIPG / Q9Y5X9 / lipase G, endothelial typeENSG0000010167029
LIPC / P11150 / lipase C, hepatic typeENSG0000016603529
Q17RR3 / PNLIPRP3 / pancreatic lipase related protein 3ENSG0000020383728
LPL / P06858 / lipoprotein lipaseENSG0000017544526


Protein motifs (from Interpro)
Interpro ID Name
 IPR000734  Triacylglycerol lipase family
 IPR013818  Lipase/vitellogenin
 IPR016272  Lipase, LIPH-type
 IPR029058  Alpha/Beta hydrolase fold
 IPR033906  Lipase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006654 phosphatidic acid biosynthetic process TAS
 biological_processGO:0016042 lipid catabolic process IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0004620 phospholipase activity TAS
 molecular_functionGO:0008201 heparin binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0052689 carboxylic ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of PA


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000479 Abnormality of the retina 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000535 Sparse eyebrows 
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 HP:0000615 Abnormality of the pupils 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0002213 Fine hair 
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 HP:0002217 Slow-growing hair 
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 HP:0002224 Woolly hair 
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0002299 Fine, brittle hair 
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 HP:0004782 Hypotrichosis of the scalp "Reduced or lacking hair growth of the scalp." [HPO:curators]
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 HP:0005338 Sparse lateral eyebrows 
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 HP:0005599 Hair hypopigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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