Homo sapiens Protein: MIA3
Summary
InnateDB Protein IDBP-106807.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MIA3
Protein Name melanoma inhibitory activity family, member 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000340900
InnateDB Gene IDBG-106805 (MIA3)
Protein Structure
UniProt Annotation
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:0000269PubMed:19269366}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:19269366}; Single-pass type I membrane protein {ECO:0000269PubMed: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.
Disease Associations
Tissue Specificity Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue. {ECO:0000269PubMed:15183315, ECO:0000269PubMed:17044017}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0002063 chondrocyte development
GO:0002687 positive regulation of leukocyte migration
GO:0006887 exocytosis
GO:0007162 negative regulation of cell adhesion
GO:0015031 protein transport
GO:0030199 collagen fibril organization
GO:0030336 negative regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0042060 wound healing
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001452 SH3 domain
IPR011511 Variant SH3 domain
PFAM PF00018
PF14604
PF07653
PRINTS PR00452
PIRSF
SMART SM00326
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5JRA6
PhosphoSite PhosphoSite-Q5JRA6
TrEMBL
UniProt Splice Variant
Entrez Gene 375056
UniGene Hs.708275
RefSeq NP_940953
HUGO HGNC:24008
OMIM 613455
CCDS CCDS41470
HPRD
IMGT
EMBL AK096526 AK290335 AK296712 AL592148 AY359091 BC047116 D87742 DQ166034 L34688
GenPept AAB00324 AAH47116 AAQ89449 AAZ95512 BAA13448 BAC04810 BAF83024 BAH12416 CAI40469 CAI40470 CAI40471 CAI40473 CAI40474