| Gene Symbol |
MIA3
|
| Entrez Gene |
375056
|
| Alt Symbol |
ARNT, D320, TANGO, TANGO1, UNQ6077
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
melanoma inhibitory activity family, member 3
|
| Other Description |
C219-reactive peptide|melanoma inhibitory activity protein 3|transport and Golgi organization protein 1
|
| Swissprots |
Q3S4X3 A8K2S0 Q92580 Q8N8M5 Q6UVY8 Q5JRB2 Q5JRA6 Q5JRA5 Q5JRB0 Q86Y60 A8MT13 Q14083 A8MT05 Q5JRB1 B7Z430
|
| Accessions |
CAH05393 EAW93267 Q5JRA6 AK025122 AK025506 AK026489 AK096526 BAC04810 AK290335 BAF83024 AK296712 BAH12416 AK307412 AX775845 CAE11622 AY359091 AAQ89449 BC031805 BC047116 AAH47116 BG429750 BP423646 CK724924 D87742 BAA13448 DA040423 DQ166034 AAZ95512 L34688 AAB00324 XM_005273121 XP_005273178 XM_006711304 XP_006711367 XM_011509513 XP_011507815 NM_001300867 NP_001287796 NM_198551 NP_940953
|
| 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. {ECO:0000269|PubMed:19269366}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000269|PubMed:19269366}; Single-pass type I membrane protein {ECO:0000269|PubMed:19269366}. Note=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. {ECO:0000269|PubMed:15183315, ECO:0000269|PubMed:17044017}.
|