| Type | Description |
|---|---|
| Definition | tRNA nucleotidyl transferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-02 10:09:00 | The expression of mitochondrial non-coding RNAs regulated by TRNT1 has been described. | 31512554 |
| 2019-10-26 12:18:00 | In vitro analysis revealed that the I326T substitution decreases the thermal stability of TRNT1 and causes a ten-fold reduction in enzyme activity. These data suggest that the structural changes in the I326T variant result from a rearrangement of helices within the body domain of the protein which can be probed by the inability of the monomeric enzyme to form a covalent dimer in vitro. | 30959222 |
| 2019-04-20 10:46:00 | Peripheral B-cell deficiency of TRNT1 deficiency may be associated with augmented ER stress in immature B cells in the bone marrow. | 30758723 |
| 2019-01-26 11:18:00 | We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay. Mutations of TRNT1 lead to a severe and often fatal syndrome, linking protein homeostasis and autoinflammation. | 29358286 |
| 2018-06-16 12:12:00 | In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. | 29454993 |
| Type | IDs |
|---|---|
| Synonymous | CCA1, CGI-47, MtCCA, RPEM, SIFD |
| Gene |
UniProtKB-ID:
TRNT1_HUMAN,
A0A024R2H7_HUMAN
UniprotKB:
Q96Q11,
A0A024R2H7
UniParc:
UPI000013CD08,
UPI000013DC29,
UPI0000046803,
UPI000014077B
EMBL:
AB063105,
AF151805,
AC024060,
AL834397,
BC012537,
CH471055,
AK290411,
BC005184
Ensembl:
ENSG00000072756
KO:
hsa:51095
|
| Nucleutide sequences |
EMBL-CDS:
AAD34042.1,
BAB70662.1,
AAH05184.1,
BAF83100.1,
AAH12537.1,
CAD39059.1,
EAW63886.1,
EAW63889.1
Gene_ORFName:
CGI-47,
hCG_1994583
Ensembl_TRS:
ENST00000434583,
ENST00000339437,
ENST00000402675,
ENST00000251607,
ENST00000420393,
ENST00000280591
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000415100,
ENSP00000385745,
ENSP00000280591,
ENSP00000251607,
ENSP00000342985,
ENSP00000400394
RefSeq:
NP_001354251.1,
NP_001354250.1,
NP_001289875.2,
NP_886552.3,
NP_001354252.1
|
| Others |
UniRef100:
UniRef100_Q96Q11,
UniRef100_A0A024R2H7
UniRef90:
UniRef90_Q96Q11
UniRef50:
UniRef50_Q96Q11
UniGene:
Hs.732725
CCDS:
CCDS2561.2,
CCDS77691.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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