This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
Subcellular Location:
Endoplasmic reticulum membrane.
Tissue Specificity:
Highly expressed in hydatidiform moles, but barely expressed in dermoid cysts. Biallelic expression is detected in blood lymphocytes. Seems to imprinted in an isoform-specific manner rather than in a tissue-specific manner in lymphocytes. Isoform 1 is expressed only from the paternal allele. Isoform 2 is expressed from both the paternal allele and the maternal allele.
Similarity:
Belongs to the AB hydrolase superfamily.
SWISS:
Q5EB52
Gene ID:
4232
Database links:
Entrez Gene: 4232 Human
Entrez Gene: 40436 Cow
Entrez Gene: 607717 Dog
Entrez Gene: 17294 Mouse
Entrez Gene: 100147710 Pig
Entrez Gene: 58827 Rat
Omim: 601029 Human
SwissProt: Q2HJM9 Cow
SwissProt: Q5EB52 Human
SwissProt: Q07646 Mouse
SwissProt: Q6P5P5 Rat
Unigene: 270978 Human
Unigene: 59431 Rat
|
|
