RBCC Red Blood Cell Collection

TMCO1_HUMAN

Source: PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TMCO1 , TMCC4 , PNAS-10, PNAS-136, UNQ151/PRO177
Protein names and data: TMCO1_HUMAN , Transmembrane and coiled-coil domain-containing protein 1 , Transmembrane and coiled-coil domains protein 4; Xenogeneic cross-immune protein PCIA3 Lenght: 188 a.a.
Mass: 21175 Da
fasta formatted sequence
Disease: ( OMIM: 614123 614132 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular 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.

Database cross-references

UniProt: Q9UM00
Ensembl: ENST00000392129
MIM: 614123
MIM: 614132
neXtProt: NX_Q9UM00
Antibodypedia: Q9UM00 (may not find the protein thus also not any antibody)
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