Version 5.4
Homo sapiens Protein: TMCO1
Summary
InnateDB Protein IDBP-246285.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMCO1
Protein Name transmembrane and coiled-coil domains 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000375975
InnateDB Gene IDBG-104489 (TMCO1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:10393320}; Multi-pass membrane protein {ECO:0000269PubMed:10393320}. Golgi apparatus membrane {ECO:0000269PubMed:10393320}; Multi-pass membrane protein {ECO:0000269PubMed:10393320}.
Disease Associations Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:213980]: 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. {ECO:0000269PubMed:20018682}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269PubMed:10393320, ECO:0000269PubMed:20018682}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0000139 Golgi membrane
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR002809 Protein of unknown function DUF106, transmembrane
IPR008559 Uncharacterised conserved protein UCP023322, transmembrane eukaryotic
PFAM PF01956
PRINTS
PIRSF PIRSF023322
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UM00
PhosphoSite PhosphoSite-Q9UM00
TrEMBL J3QQY2
UniProt Splice Variant
Entrez Gene 54499
UniGene Hs.93832
RefSeq
HUGO HGNC:18188
OMIM 614123
CCDS
HPRD 14243
IMGT
EMBL AB020980 AF070626 AF274935 AF277194 AK316610 AL451074 AY359027 AY763589 BC000104 CH471067
GenPept AAC25388 AAH00104 AAK07514 AAK07549 AAQ89386 AAV34755 BAA86974 BAG38197 CAH74064 EAW90764

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca