Property Summary

NCBI Gene PubMed Count 10
Grant Count 1
Funding $14,373.33
PubMed Score 12.97
PubTator Score 6.59

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
24344921 Results show that PNPLA1 missense mutations observed in this European family affect the patanin-like domain
24057234 These results identified hPNPLA1 and a mutant in HeLa cells.
22246504 One missense and one nonsense mutation in the catalytic domain of human PNPLA1 were found in six individuals with autosomal recessive congenital ichthyoses from two families.
19390624 PNPLA1 exhibited a modest effect on obesity
19390624 Observational study of gene-disease association. (HuGE Navigator)
18414634 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAALAICGIEMDE      1 - 70
YLRVLNVGVAEVKKSFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTS     71 - 140
KEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHD    141 - 210
FRMFNCSFQFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQ    211 - 280
IELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPL    281 - 350
EQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAP    351 - 420
TSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVT    421 - 490
ESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ                                491 - 532
//

Text Mined References (11)

PMID Year Title
24344921 2014 Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
24057234 2013 Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells.
22246504 2012 PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
19390624 2009 Genetic variance in the adiponutrin gene family and childhood obesity.
19029121 2009 Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions.
18414634 2008 Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione S-transferase omega genes.
16799181 2006 Characterization of the human patatin-like phospholipase family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
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