| Type | Description |
|---|---|
| Definition | histidine triad nucleotide binding protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:57:00 | HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. | 31848916 |
| 2020-07-25 12:16:00 | The human HINT1 mutants reported to cause ARAN-NM all exhibited deficiencies in their sumoylase activity, thus suggesting a role for HINT1 isopeptidase activity in the pathogenesis of this human motor disease. | 31088288 |
| 2020-02-08 10:48:00 | Ap4A binds to the histidine triad nucleotide-binding protein 1 (HINT1), disrupts its interaction with the microphthalmia-associated transcription factor (MITF), and eventually activates the transcription of genes downstream of MITF in response to immunostimulation. | 31604935 |
| 2019-09-28 12:03:00 | The c.335C>T (p.R119W) of the HINT1 gene probably underlies neuromyotonia and axonal neuropathy in this pedigree. | 31400136 |
| 2019-09-07 10:24:00 | HINT1 mutations R37P, G93D and W123* destabilize the HINT1 dimer and significantly reduce catalytic activity and HINT1 inhibitor binding activity. The H112N mutant is dimeric and lacks catalytic activity, but has high affinity to AMP and a HINT1 inhibitor. Catalytic activity and dimeric structure of the surface mutants, C84R and G89V are similar to wild-type HINT1. | 29787766 |
| Type | IDs |
|---|---|
| Synonymous | HINT, NMAN, PKCI-1, PRKCNH1 |
| Gene |
UniProtKB-ID:
HINT1_HUMAN,
A0A384NPU2_HUMAN
UniprotKB:
P49773,
A0A384NPU2
UniParc:
UPI000004F5CC
EMBL:
U27143,
GQ900905,
BC007090,
BC001287,
U51004,
CR457048,
CH471062,
AK026557,
GQ891466
Ensembl:
ENSG00000169567
KO:
hsa:3094
|
| Nucleutide sequences |
EMBL-CDS:
AAA82926.1,
AAH07090.1,
BAB15500.1,
CAG33329.1,
AAC71077.1,
AAH01287.1,
ADO22328.1,
ADO22422.1,
EAW62376.1
Gene_ORFName:
hCG_23479
Ensembl_TRS:
ENST00000304043
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000304229
RefSeq:
NP_005331.1
|
| Others |
UniRef100:
UniRef100_P49773
UniRef90:
UniRef90_P49773
UniRef50:
UniRef50_P49773
UniGene:
Hs.483305
CCDS:
CCDS4147.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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