ID:TMCO1_HUMAN DESCRIPTION: RecName: Full=Transmembrane and coiled-coil domain-containing protein 1; AltName: Full=Transmembrane and coiled-coil domains protein 4; AltName: Full=Xenogeneic cross-immune protein PCIA3; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. 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. DISEASE: Defects in TMCO1 are the cause of craniofacial dysmorphism skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:614132]. A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. SIMILARITY: Belongs to the TMCO1 family. SEQUENCE CAUTION: Sequence=AAC25388.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAK07514.1; Type=Frameshift; Positions=Several; Sequence=AAK07549.1; Type=Frameshift; Positions=Several;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01956 - Integral membrane protein EMC3/TMCO1-like
ModBase Predicted Comparative 3D Structure on Q9UM00
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006816 calcium ion transport GO:0006983 ER overload response GO:0032469 endoplasmic reticulum calcium ion homeostasis GO:0070588 calcium ion transmembrane transport
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
