ENSMUSG00000043286


Mus musculus

Features
Gene ID: ENSMUSG00000043286
  
Biological name :Pnpla1
  
Synonyms : Patatin-like phospholipase domain-containing protein 1 / Pnpla1 / Q3V1D5
  
Possible biological names infered from orthology : patatin like phospholipase domain containing 1 / Q8N8W4
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A3.3
Gene start: 28858411
Gene end: 28890308
  
Corresponding Affymetrix probe sets: 10443438 (MoGene1.0st)   1457448_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000050123
Ensembl peptide - ENSMUSP00000110385
NCBI entrez gene - 433091     See in Manteia.
MGI - MGI:3617850
RefSeq - XM_006524585
RefSeq - NM_001034885
RefSeq - XM_006524581
RefSeq - XM_006524582
RefSeq Peptide - NP_001030057
swissprot - B2KF06
swissprot - Q3V1D5
Ensembl - ENSMUSG00000043286
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000000477Gallus gallus
 PNPLA1ENSG00000180316Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pnpla2 / Q8BJ56 / patatin-like phospholipase domain containing 2 / Q96AD5*ENSMUSG0000002550923
Pnpla3 / patatin like phospholipase domain containing 3 / Q9NST1*ENSMUSG0000004165320
Pnpla5 / Q32LZ8 / Patatin-like phospholipase domain-containing protein 5 / Q7Z6Z6* / patatin like phospholipase domain containing 5*ENSMUSG0000001886817


Protein motifs (from Interpro)
Interpro ID Name
 IPR002641  Patatin-like phospholipase domain
 IPR016035  Acyl transferase/acyl hydrolase/lysophospholipase
 IPR033562  Patatin-like phospholipase domain-containing protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0019433 triglyceride catabolic process IBA
 biological_processGO:0055088 lipid homeostasis IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005811 lipid droplet IBA
 cellular_componentGO:0016020 membrane IBA
 molecular_functionGO:0004806 triglyceride lipase activity IBA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001190 reddish skin "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [J:65038]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001196 shiny skin "skin with a glossy or glistening appearance" [J:56641]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0001198 tight skin "skin has a taut, stretched appearance" [J:65038]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0001211 wrinkled skin "irregular folds and/or indentations on the skin" [J:19212]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: Abhd5tm1Murm/Abhd5tm1Murm
Genetic Background: B6.129S-Abhd5tm1Murm

 MP:0001230 epidermal desquamation "shedding of the cuticle of the epidermis in scales or shreds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Pnpla1tm1.1Murm/Pnpla1tm1.1Murm,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: C57BL/6N

 MP:0001240 abnormal cornified layer morphology "structural or developmental anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Abhd5tm1Murm/Abhd5tm1Murm
Genetic Background: B6.129S-Abhd5tm1Murm

Allelic Composition: Pnpla1tm1.1Murm/Pnpla1tm1.1Murm,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: C57BL/6N

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0001874 acanthosis "diffuse hyperplasia of the spinous layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

Allelic Composition: Pnpla1tm1.1Murm/Pnpla1tm1.1Murm,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: C57BL/6N

 MP:0003853 dry skin "skin characterized by the lack of natural or normal moisture" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0003941 abnormal skin development "anomaly in the formation of of the membranous protective covering of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0003982 increased cholesterol level "greater than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0005317 increased triglyceride level "higher than normal concentration of triacylglycerols " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0009429 decreased embryo weight "reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0009597 impaired stratum corneum desquamation "dysregulated shedding of the outermost layer of corneocytes, affecting the integrity and thickness of the stratum corneum; may result in xerotic and ichthyotic conditions" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

 MP:0009602 abnormal keratohyalin granule morphology "any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0009605 decreased keratohyalin granule number "reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0009608 abnormal lamellar body morphology "any structural anomaly of a membrane-bounded organelle, specialized for the storage and secretion various substances (surfactant phospholipids, glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae" [GO:0042599]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0010358 abnormal free fatty acids level "any anomaly in the concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pnpla1tm1.1Murm/Pnpla1tm1.1Murm,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: C57BL/6N

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0012232 abnormal ceramide level 
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

Allelic Composition: Pnpla1tm1.1Murm/Pnpla1tm1.1Murm,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: C57BL/6N

 MP:0013177 abnormal tail tip morphology "any structural anomaly of the distal end of the tail" [MGI:anna]
Show

Allelic Composition: E2f4tm2.1Lees/E2f4tm2.1Lees,Shhtm1(EGFP/cre)Cjt/Shh+
Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6

Allelic Composition: Pnpla1tm1Murm/Pnpla1tm1Murm
Genetic Background: involves: C57BL/6N

  


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






 

0 s.

 
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