Function:
Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. May participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1.
Subcellular Location:
Endoplasmic reticulum membrane. Localizes at endoplasmic reticulum exit sites. After loading of COL7A1 into transport carriers, it is not incorporated into COPII carriers and remains in the endoplasmic reticulum membrane.
Tissue Specificity:
Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue.
Similarity:
Belongs to the MIA/OTOR family.
Tango1 subfamily.
Contains 1 SH3 domain.
Database links:
Entrez Gene: 375056 Human
Omim: 613455 Human
SwissProt: Q5JRA6 Human
Unigene: 118474 Human
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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