| Type | Description |
|---|---|
| Definition | kelch like family member 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 11:41:00 | Molecular dynamics simulations indicate the effects of these mutations on the interaction between the Kelch domain of kelch-like protein 3 (KLHL3) and the acidic motif (AM) of WNK lysine deficient protein kinase 4 protein (WNK4). | 30931564 |
| 2019-06-22 12:03:00 | The KLHL3 rs7444370 variant could be a protective factor in the pathogenesis of females' essential hypertension | 31096542 |
| 2019-05-04 11:41:00 | tacrolimus increases levels of KLHL3(S433-P), resulting in increased levels of WNK4, phosphorylated and Na-Cl cotransporter.These findings demonstrate that KLHL3(S433-P) is a calcineurin substrate and implicate increased KLHL3 phosphorylation in tacrolimus-induced pathologies. | 30718414 |
| 2018-05-26 10:06:00 | A new recessive mutation in KLHL3 (S553L) was identified in familial hyperkalemia and hypertension. Increased urinary NCC was found in affected members (heterozygous) with dominant KLHL3 Q309R, and in affected members (homozygous) of the recessive form. | 28511177 |
| 2017-08-26 11:02:00 | Mutation in the KLHL3 gene is associated with Gordon syndrome. | 28222034 |
| Type | IDs |
|---|---|
| Synonymous | PHA2D |
| Gene |
UniProtKB-ID:
KLHL3_HUMAN
UniprotKB:
Q9UH77
UniParc:
UPI000002ACC2,
UPI000002ACC3,
UPI000012DE05
EMBL:
AC004021,
CH471062,
AF208070,
AK314707,
AC092318,
AF208069,
AC106775,
AB032955,
AF208068
Ensembl:
ENSG00000146021
KO:
hsa:26249
|
| Nucleutide sequences |
EMBL-CDS:
AAF20995.1,
AAF20938.1,
AAF20939.1,
BAG37254.1,
EAW62183.1,
AAB97127.1,
BAA86443.1
Ensembl_TRS:
ENST00000508657,
ENST00000309755,
ENST00000506491
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000424828,
ENSP00000422099,
ENSP00000312397
RefSeq:
NP_059111.2,
NP_001244123.1,
NP_001244124.1
|
| Others |
UniRef100:
UniRef100_Q9UH77
UniRef90:
UniRef90_Q9UH77
UniRef50:
UniRef50_Q9UH77
UniGene:
Hs.655084
CCDS:
CCDS58969.1,
CCDS4192.1,
CCDS58970.1
|
| {{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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