background:
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Function:
Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle.
Subcellular Location:
Cytoplasmic vesicle ?autophagosome membrane; Multi-pass membrane protein. Note: Under amino acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1 and ATG13.
Tissue Specificity:
Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial.
Similarity:
Belongs to the ATG9 family.
Database links:
Entrez Gene: 285973 Human
Entrez Gene: 213948 Mouse
Entrez Gene: 499973 Rat
Omim: 612205 Human
SwissProt: Q674R7 Human
SwissProt: Q6EBV9 Mouse
Unigene: 707300 Human
Unigene: 716846 Human
Unigene: 332252 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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