TMCO1 (transmembrane and coiled-coil domains 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54499 |
| Gene name | Transmembrane and coiled-coil domains 1 |
| Gene symbol | TMCO1 |
| Synonyms (NCBI Gene) |
CFSMR1HP10122PCIA3PNAS-136TMCC4
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| Chromosome | 1 |
| Chromosome location | 1q24.1 |
| Summary | 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. Alt |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UM00 | ||||||||||
| Protein name | Calcium load-activated calcium channel (CLAC channel) (GEL complex subunit TMCO1) (Transmembrane and coiled-coil domain-containing protein 1) (Transmembrane and coiled-coil domains protein 4) (Xenogeneic cross-immune protein PCIA3) | ||||||||||
| Protein function | 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 | ||||||||||
| PDB | 6W6L | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney (PubMed:10393320, PubMed:20018682). Present in most tissues in the eye | ||||||||||
| Sequence |
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| Sequence length | 239 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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