| Type | Description |
|---|---|
| Definition | 4-hydroxy-2-oxoglutarate aldolase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-01 13:49:00 | Study found that primary hyperoxaluria type 3 (PH3) was significantly diagnosed in Chinese children with urolithiasis. Nine novel HOGA1 mutations were identified in association with PH3, which provide a first-line investigation in Chinese PH3 patients. The eGFR was normal in all children with PH3. This finding contrasts with the early impairment of renal function in PH1 and PH2. | 31123811 |
| 2020-07-18 12:23:00 | Biophysical and structural studies showed that pyruvate was a competitive inhibitor of HOGA1 with an inhibition constant in the micromolar range. | 31696211 |
| 2020-02-01 11:29:00 | Potential mutation hot spot region (c.834_834+1) in the Chinese population and two novel mutations were found. | 31401635 |
| 2017-05-13 19:05:00 | Results show that HOGA1 harboring mutations found in primary hyperoxaluria is thermally unstable and targeted for proteolytic degradation leading to an absolute loss of function. | 27096395 |
| 2016-05-28 11:48:00 | Among the seven patients identified with HOGA1 mutations the median onset of clinical symptoms was 1.8 years. Five patients initially presented with urolithiasis, and two other patients presented with urinary tract infection. | 25972204 |
| Type | IDs |
|---|---|
| Synonymous | C10orf65, DHDPS2, DHDPSL, HP3, NPL2 |
| Gene |
UniProtKB-ID:
HOGA1_HUMAN
UniprotKB:
Q86XE5
UniParc:
UPI0000073DBA,
UPI000000DAE5
EMBL:
AL355315,
AK289440,
BC011916,
CH471066,
BC045550,
AJ312051,
BC057821
Ensembl:
ENSG00000241935
KO:
hsa:112817
|
| Nucleutide sequences |
EMBL-CDS:
EAW49912.1,
CAC84901.1,
AAH57821.1,
AAH45550.1,
AAH11916.1,
BAF82129.1
Ensembl_TRS:
ENST00000370647,
ENST00000370646
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359680,
ENSP00000359681
RefSeq:
NP_001128142.1,
NP_612422.2
|
| Others |
UniRef100:
UniRef100_Q86XE5
UniRef90:
UniRef90_Q86XE5
UniRef50:
UniRef50_Q86XE5
UniGene:
Hs.180346
CCDS:
CCDS7467.1,
CCDS44469.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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