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- Table of Contents
Facts about Calcium load-activated calcium channel.
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Human | |
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Gene Name: | TMCO1 |
Uniprot: | Q9UM00 |
Entrez: | 54499 |
Belongs to: |
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TMCO1 family |
HP10122; PCIA3; PNAS-136; putative membrane protein; RP11-466F5.7; TMCC4; transmembrane and coiled-coil domain-containing protein 1; transmembrane and coiled-coil domains 1; transmembrane and coiled-coil domains 4; Transmembrane and coiled-coil domains protein 4; Xenogeneic cross-immune protein PCIA3
Mass (kDA):
27.079 kDA
Human | |
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Location: | 1q24.1 |
Sequence: | 1; NC_000001.11 (165724291..165768922, complement) |
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, including the trabecular meshwork and retina (at protein level) (PubMed:22714896).
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed:27212239). A publication reported localization in cytoplasm and nucleus (PubMed:22714896). Nuclear localization is however in contradiction with two other reports (PubMed:10393320, PubMed:27212239).
PMID: 10393320 by Iwamuro S., et al. Multi-ubiquitination of a nascent membrane protein produced in a rabbit reticulocyte lysate.
PMID: 20018682 by Xin B., et al. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.