This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ASHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]
Function:
Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription (By similarity). Guanine nucleotide exchange factor that activates SARA2. Required for the formation of COPII transport vesicles from the ER.
Subcellular Location:
Nucleus. Endoplasmic reticulum membrane.
Tissue Specificity:
Ubiquitous.
Similarity:
Contains 3 WD repeats.
SWISS:
Q9HCU5
Gene ID:
10113
Database links:
Entrez Gene: 10113 Human
Entrez Gene: 50907 Mouse
Entrez Gene: 58842 Rat
Omim: 606395 Human
SwissProt: Q9HCU5 Human
SwissProt: Q9WUQ2 Mouse
SwissProt: Q9WTV0 Rat
Unigene: 279784 Human
Unigene: 272414 Mouse
Unigene: 41899 Rat
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