This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Function:
May play a role in clustering and fusion of late endosomes and lysosomes.
Subcellular Location:
Cytoplasm. Lysosome membrane. Late endosome membrane.
Tissue Specificity:
Ubiquitous. Highly expressed in heart, skeletal muscle, kidney, pancreas, brain, placenta and lung.
Similarity:
Belongs to the VAM6/VPS39 family.
Contains 1 CNH domain.
SWISS:
Q96JC1
Gene ID:
23339
Database links:
Entrez Gene: 23339 Human
Entrez Gene: 269338 Mouse
Entrez Gene: 362199 Rat
Omim: 612188 Human
SwissProt: Q96JC1 Human
SwissProt: Q8R5L3 Mouse
Unigene: 17625 Human
Unigene: 246131 Mouse
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