| Type | Description |
|---|---|
| Definition | transmembrane and coiled-coil domains 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-22 15:29:00 | A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia. | 31102500 |
| 2020-05-23 10:41:00 | CDKN2B-AS1 can inhibit the transcription of ADAM10 via DNMT1-mediated ADAM10 DNA methylation, consequently preventing inflammatory response of atherosclerosis and promoting cholesterol efflux. | 30926762 |
| 2020-03-21 12:13:00 | Our results demonstrate that a SNP downstream of TMCO1, rs4657473, is associated with POAG in an AA population. Our studies suggest a regulatory role for the previously POAG-associated locus near the TMCO1 gene that may affect gene expression. | 30862618 |
| 2020-02-15 13:19:00 | Thus we provide evidence that cerebrofaciothoracic dysplasia (CFTD) may be more common than previously thought. The patients presented here further delineate the phenotypic spectrum of CFTD and provide evidence for a recurrent pathogenic variant in TMCO1. | 30556256 |
| 2019-04-27 10:32:00 | An essential role of TMCO1 in osteogenesis mediated by local Ca(2+)/CaMKII signaling in osteoblasts.TMCO1 levels were significantly decreased in bone from both osteoporosis patients. | 30962442 |
| Type | IDs |
|---|---|
| Synonymous | HP10122, PCIA3, PNAS-136, TMCC4 |
| Gene |
UniProtKB-ID:
TMCO1_HUMAN,
B7Z591_HUMAN
UniprotKB:
Q9UM00,
B7Z591
UniParc:
UPI0000EE3C5A,
UPI0000D4E074,
UPI00102F2E15,
UPI0000022931
EMBL:
AF274935,
AL451074,
AB020980,
AK316610,
BC000104,
CH471067,
AK316080,
AY359027,
AY763589,
AF070626,
AF277194,
AK298614
Ensembl:
ENSG00000143183
KO:
hsa:54499
|
| Nucleutide sequences |
EMBL-CDS:
AAH00104.1,
AAQ89386.1,
AAK07549.1,
AAK07514.1,
BAA86974.1,
AAV34755.1,
EAW90763.1,
BAG38197.1,
AAC25388.1,
BAH14451.1,
BAH12827.1,
EAW90762.1
Gene_ORFName:
PNAS-136,
PNAS-10,
UNQ151/PRO177,
hCG_1766418
Ensembl_TRS:
ENST00000612311,
ENST00000367881,
ENST00000392129
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000356856,
ENSP00000375975,
ENSP00000480514
RefSeq:
NP_061899.3,
NP_001243093.1,
NP_001243094.1
|
| Others |
UniRef100:
UniRef100_B7Z591,
UniRef100_Q9UM00
UniRef90:
UniRef90_G1QE40,
UniRef90_Q9UM00
UniRef50:
UniRef50_Q9UM00,
UniRef50_A0A0A9X7M7
UniGene:
Hs.31498
CCDS:
CCDS1251.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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