AlphaFold predicted structure
TMCO1 · Q9UM00
Mean pLDDT
63.9/ 100
Low
239 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)49%
- Low(50–70)28%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TMCO1
Chr 1q24.1transmembrane and coiled-coil domains 1
- Aliases:
- HP10122
- MANE:
- ENST00000367881.11
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalOsteogenesis imperfecta
Disease associations (Open Targets)
Cerebro-facio-thoracic dysplasia
0.77open-angle glaucoma
0.57hereditary disease
0.49glaucoma
0.47Abnormality of the skeletal system
0.37cleft palate
0.37eye disorder
0.36low tension glaucoma
0.34response to xenobiotic stimulus
0.23anaphylaxis
0.23
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Calcium load-activated calcium channel
Endoplasmic reticulum (ER) calcium-selective channel preventing intracellular Ca2(+) stores from overfilling and maintaining calcium homeostasis in the ER (PubMed:27212239). In response to endoplasmic reticulum (ER) Ca2(+) overloading, assembles into a homotetramer, forming a functional calcium-selective channel facilitating Ca2(+) release (PubMed:27212239). Mediates ER Ca2(+) homeostasis in osteoblasts and plays a key role in bone formation, via the CaMKII-HDAC4-RUNX2 signaling axis (By similarity). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522)
Diseases associated with TMCO1
Curated MONDO disease pages that list TMCO1 among their top associated genes.