| Type | Description |
|---|---|
| Definition | histidyl-tRNA synthetase |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:02:00 | Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy. | 31982271 |
| 2019-03-30 12:00:00 | the first biochemical analysis of Charcot-Marie-Tooth-associated HARS mutations and underscores how loss of the primary aminoacylation function can contribute to disease pathology. | 29235198 |
| 2017-09-02 11:38:00 | This study suggests that the human HisRS genes, while descending from a common ancestor with dual function for both types of tRNA(His), have acquired highly specialized tRNA recognition properties through evolution. | 28321488 |
| 2017-08-05 10:08:00 | Despite the similar kinetics, differential scanning fluorimetry revealed that Y454S is less thermally stable than HARS, and cells from Y454S patients grown at elevated temperatures demonstrate diminished levels of protein synthesis compared to those of duanyu2363 cells. The thermal sensitivity associated with the Y454S mutation represents a biochemical basis for understanding Usher Syndrome Type IIIB. | 28632987 |
| 2015-10-17 11:42:00 | Loss of function mutations in histidyl-tRNA synthetase cause a spectrum of inherited peripheral neuropathies | 26072516 |
| Type | IDs |
|---|---|
| Synonymous | CMT2W, HRS, USH3B |
| Gene |
UniProtKB-ID:
HARS1_HUMAN,
B4DDD8_HUMAN,
B4E1C5_HUMAN
UniprotKB:
P12081,
B4DDD8,
B4E1C5
UniParc:
UPI00017A6C8E,
UPI00001364CE,
UPI0001D3B940,
UPI000020CDFA,
UPI00017A8143,
UPI00017A88BE
EMBL:
AK293154,
X05345,
M96646,
BC080514,
BC011807,
AC116353,
AK302295,
AK295219,
U18936,
Z11518,
AK225776,
AK303778
Ensembl:
ENSG00000170445
KO:
hsa:3035
|
| Nucleutide sequences |
EMBL-CDS:
AAA58668.1,
CAA77607.1,
AAA73973.1,
CAA28956.1,
BAG63635.1,
BAG58213.1,
AAH80514.1,
AAH11807.1,
BAG56699.1,
BAG64737.1
Ensembl_TRS:
ENST00000504156,
ENST00000457527,
ENST00000307633,
ENST00000438307,
ENST00000415192,
ENST00000431330
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387893,
ENSP00000425634,
ENSP00000411511,
ENSP00000304668,
ENSP00000411085,
ENSP00000393244
RefSeq:
NP_001244969.1,
NP_002100.2,
NP_001276022.1,
NP_001244970.1,
NP_001276021.1,
NP_001244971.1,
NP_001276023.1
|
| Others |
UniRef100:
UniRef100_B4E1C5,
UniRef100_P12081,
UniRef100_B4DDD8
UniRef90:
UniRef90_B4E1C5,
UniRef90_P12081,
UniRef90_B4DDD8
UniRef50:
UniRef50_P12081,
UniRef50_B4DDD8,
UniRef50_B4E1C5
UniGene:
Hs.528050
CCDS:
CCDS4237.1,
CCDS58976.1,
CCDS58977.1,
CCDS58978.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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