MMGT1

Chr Xq26.3

membrane magnesium transporter 1

Aliases:: EMC5
MANE:: ENST00000305963.3

OMIM: 301098 ↗NCBI: 93380 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MMGT1 · Q8N4V1

v62025-08-01

Predicted Aligned Error matrix for MMGT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.1/ 100

Confident

131 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)38%
Low(50–70)21%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Hypotonia
0.12
Complete right bundle branch block
0.02
coronary artery bypass
0.02
myocardial ischemia
0.02
coronary artery disorder
0.02
coronary atherosclerosis
0.02
percutaneous transluminal coronary angioplasty
0.02
neoplasm
0.00
infection
0.00
Alzheimer disease
0.00

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

Protein function (UniProt)

ER membrane protein complex subunit 5

Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (By similarity). May be involved in Mg(2+) transport (By similarity)