ENSMUSG00000004565


Mus musculus

Features
Gene ID: ENSMUSG00000004565
  
Biological name :Pnpla6
  
Synonyms : Mus musculus patatin-like phospholipase domain containing 6 (Pnpla6), transcript variant 4, mRNA. / Pnpla6 / Q3TRM4
  
Possible biological names infered from orthology : patatin like phospholipase domain containing 6 / Q8IY17
  
Species: Mus musculus
  
Chr. number: 8
Strand: 1
Band: A1.1
Gene start: 3515384
Gene end: 3544267
  
Corresponding Affymetrix probe sets: 10569786 (MoGene1.0st)   1416517_at (Mouse Genome 430 2.0 Array)   1427379_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000146377
Ensembl peptide - ENSMUSP00000106699
Ensembl peptide - ENSMUSP00000146441
Ensembl peptide - ENSMUSP00000147227
Ensembl peptide - ENSMUSP00000147213
Ensembl peptide - ENSMUSP00000146847
Ensembl peptide - ENSMUSP00000146680
Ensembl peptide - ENSMUSP00000146555
Ensembl peptide - ENSMUSP00000146543
Ensembl peptide - ENSMUSP00000004681
NCBI entrez gene - 50767     See in Manteia.
MGI - MGI:1354723
RefSeq - XM_017312891
RefSeq - NM_001359124
RefSeq - NM_015801
RefSeq - XM_006508822
RefSeq - XM_006508823
RefSeq - XM_006508824
RefSeq - XM_006508825
RefSeq - XM_006508826
RefSeq - XM_006508827
RefSeq - XM_006508828
RefSeq - XM_006508829
RefSeq - XM_006508830
RefSeq - XM_006508831
RefSeq - XM_006508832
RefSeq - XM_011242066
RefSeq - XM_017312890
RefSeq - NM_001122818
RefSeq - NM_001359121
RefSeq - NM_001359122
RefSeq - NM_001359123
RefSeq Peptide - NP_001346050
RefSeq Peptide - NP_001346051
RefSeq Peptide - NP_001346052
RefSeq Peptide - NP_001346053
RefSeq Peptide - NP_056616
RefSeq Peptide - NP_001116290
swissprot - A0A140LHJ7
swissprot - A0A140LJI6
swissprot - Q3TRM4
swissprot - A0A140LHE0
swissprot - A0A140LJH3
swissprot - A0A140LIJ8
swissprot - A0A140LI54
swissprot - A0A140LHU9
swissprot - A0A140LHT9
Ensembl - ENSMUSG00000004565
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pnpla6ENSDARG00000010773Danio rerio
 PNPLA6ENSG00000032444Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A2AJ88 / Pnpla7 / Patatin-like phospholipase domain-containing protein 7 / Q6ZV29* / patatin like phospholipase domain containing 7*ENSMUSG0000003683359


Protein motifs (from Interpro)
Interpro ID Name
 IPR000595  Cyclic nucleotide-binding domain
 IPR001423  Lysophospholipase patatin, conserved site
 IPR002641  Patatin-like phospholipase domain
 IPR014710  RmlC-like jelly roll fold
 IPR016035  Acyl transferase/acyl hydrolase/lysophospholipase
 IPR018490  Cyclic nucleotide-binding-like
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0046470 phosphatidylcholine metabolic process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004622 lysophospholipase activity IBA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0052689 carboxylic ester hydrolase activity ISS


Pathways (from Reactome)
Pathway description
Glycerophospholipid catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000832 abnormal thalamus morphology "malformation or absence of the large ovoid mass of paired bodies containing mostly gray matter and forming part of the lateral wall of the third ventricle of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Pafah1b2tm1Arai/Pafah1b2tm1Arai,Pafah1b3tm1Arai/Pafah1b3tm1Arai
Genetic Background: involves: 129X1/SvJ * C57BL/6N

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001622 abnormal vasculogenesis "aberrant process of the initial establishment of the vascular network " [J:67296, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Bdnftm1(Ntf3)Pern/Bdnftm1(Ntf3)Pern
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
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Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001712 abnormal placental development "malformed or incomplete differentiation of the organ of metabolic exchange between the fetus and mother" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001713 reduced trophoblast cell number "fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:23171]
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Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
Show

Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Bdnftm1(Ntf3)Pern/Bdnftm1(Ntf3)Pern
Genetic Background: involves: 129P2/OlaHsd

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002086 abnormal extraembryonic tissue morphology "structural abnormality or development of the membranes involved with embryonic protection and nutrition" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:40594, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Pafah1b2tm1Arai/Pafah1b2tm1Arai,Pafah1b3tm1Arai/Pafah1b3tm1Arai
Genetic Background: involves: 129X1/SvJ * C57BL/6N

 MP:0002584 small ectoplacental cone 
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002836 abnormal chorion "malformations of the outermost extraembryonic membrane" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002878 abnormal corticospinal tract "anomaly in the structure or function of the fibers that arise from the cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003403 absent placental labyrinth "malformed structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:73417]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003491 abnormal voluntary movement "anomalies in coordinated movements executed with a purpose and can be improved by learning and/or experience" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
Show

Allelic Composition: Bdnftm1(Ntf3)Pern/Bdnftm1(Ntf3)Pern
Genetic Background: involves: 129P2/OlaHsd

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bdnftm1(Ntf3)Pern/Bdnftm1(Ntf3)Pern
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004068 dilated dorsal aorta "an expansion in the volume of the dorsal region of the main trunk of the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004560 abnormal chorionic plate morphology "any structural anomaly of the portion of the chorion from which chorionic villi develop that establish a connection with the endometrium, giving rise to the fetal portion of the mature placenta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004777 abnormal phospholipid level "anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004938 dilated vasculature "stretched or widened aperture of the luminal space of the network of tubes that carries blood through the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005033 abnormal trophoblast cells "anomaly of the cells covering the blastocyst that erode the uterine mucosa and contribute to the formation of the placenta " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0005657 abnormal neural plate morphology "malformation or absence of the neuroectodermal area of the embryo s dorsal surface that develops into the neural tube and neural crest" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator, J:68142]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008803 abnormal placental labyrinth vasculature morphology "any structural anomaly in blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009656 delayed chorioallantoic fusion "late onset of the initiation and/or completion of the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009658 increased placenta apoptosis "increase in the number of cells of the placenta undergoing programmed cell death" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0009683 abnormal lateral corticospinal tract morphology "any structural anomaly of the large bundle of corticospinal motor fibers that cross the midline at the pyramidal decussation and descend in the dorsal half of the lateral funiculus; the lateral corticospinal tract controls movement of contralateral limbs" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Vsx1tm1Bhr/Vsx1tm2Bhr
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pafah1b2tm1Arai/Pafah1b2tm1Arai,Pafah1b3tm1Arai/Pafah1b3tm1Arai
Genetic Background: involves: 129X1/SvJ * C57BL/6N

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Bdnftm1(Ntf3)Pern/Bdnftm1(Ntf3)Pern
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Pnpla6tm1Mos/Pnpla6tm1Mos
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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