TMCO1 Gene Summary [Human]
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | TMCO1 |
| Official Name | transmembrane and coiled-coil domains 1 [Source:HGNC Symbol;Acc:HGNC:18188] |
| Ensembl ID | ENSG00000143183 |
| Bio databases IDs | |
| Aliases | transmembrane and coiled-coil domains 1, Ca(2+) load-activated Ca(2+) channel |
| Synonyms | 1190006A08RIK, 4930403O06Rik, CFSMR1, ESTM39, HP10122, LOC54499, PCIA3, PNAS-136, TMCC4, transmembrane and coiled-coil domains 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMCO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium channel
- ribosome binding
- Integral membrane protein EMC3/TMCO1-like
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- neoplasia
- open-angle glaucoma
- normal tension glaucoma
- craniofacial dysmorphism skeletal anomalies and impaired intellectual development syndrome type 1
- glaucoma
- hereditary disorder
- cerebrofaciothoracic dysplasia
- agenesis of corpus callosum
- premature ovarian failure
role in cell
- apoptosis
- expression in
- quantity
- migration
- calcium homeostasis
- degeneration
- ossification by
- colony formation by
- calcium spike in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMCO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ossification
- calcium ion transmembrane transport
- endoplasmic reticulum calcium ion homeostasis
- ER overload response
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
- endoplasmic reticulum
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- ribosome binding
- calcium channel activity