TMCO1 (transmembrane and coiled-coil domains 1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54499 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Transmembrane and coiled-coil domains 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TMCO1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4 |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q24.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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