PNPLA1

GENE INFORMATION

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Gene name

PNPLA1 (HGNC Symbol)

Synonyms

dJ50J22.1, FLJ38755

Description

Patatin-like phospholipase domain containing 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Chromosome

6

Cytoband

p21.31

Chromosome location (bp)

36243203 - 36308595

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000180316 (version 78.38)

Entrez gene

285848

UniProt

Q8N8W4 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N8W4

Antibodypedia

PNPLA1 antibodies
 

PROTEIN VIEW

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PNPLA1-001
 
PNPLA1-002
 
PNPLA1-003
 
PNPLA1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPLA1-001 ENSP00000391868
ENST00000457797
Q8N8W4
Show all »
Show » Show » 533 57.9 No 0
PNPLA1-002 ENSP00000373367
ENST00000388715
Q8N8W4
Show all »
Show » Show » 437 47.8 No 0
PNPLA1-003 ENSP00000321116
ENST00000312917
Q8N8W4
Show all »
Show » Show » 446 48.9 No 0
PNPLA1-004 ENSP00000378072
ENST00000394571
Q8N8W4
Show all »
Show » Show » 532 57.9 No 0