This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Function:
Plays a role in the organization of endoplasmic reticulum exit sites.
Subcellular Location:
Cytoplasmic vesicle > COPII-coated vesicle membrane. Endoplasmic reticulum.
Tissue Specificity:
Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle.
Similarity:
Belongs to the PA-PLA1 family.
Contains 1 DDHD domain.
Contains 1 SAM (sterile alpha motif) domain.
SWISS:
Q9Y6Y8
Gene ID:
11196
Database links:
Entrez Gene: 11196 Human
Entrez Gene: 207352 Mouse
Entrez Gene: 309010 Rat
SwissProt: Q9Y6Y8 Human
SwissProt: Q6NZC7 Mouse
Unigene: 435004 Human
Unigene: 667094 Human
Unigene: 297105 Mouse
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