MIA3

Chr 1q41

MIA SH3 domain ER export factor 3

Aliases:: UNQ6077, FLJ39207, KIAA0268, TANGO, TANGO1
MANE:: ENST00000344922.10

OMIM: 613455 ↗NCBI: 375056 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MIA3 · Q5JRA6

v62025-08-01

Predicted Aligned Error matrix for MIA3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.7/ 100

Low

1,907 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)14%
Low(50–70)5%
Very low(< 50)64%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

coronary artery disorder
0.47
odontochondrodysplasia 2 with hearing loss and diabetes
0.47
myocardial infarction
0.46
coronary atherosclerosis
0.44
angina pectoris
0.43
myocardial ischemia
0.40
heart disorder
0.39
heart failure
0.39
acute myocardial infarction
0.28
response to statin
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transport and Golgi organization protein 1 homolog

Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It 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. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:19269366, PubMed:27138255). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536)