| Type | Description |
|---|---|
| Definition | hypoxanthine phosphoribosyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-28 19:06:00 | In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations. | 32826875 |
| 2020-06-27 11:28:00 | The molecular dynamics behavior and structure-function relationship of hypoxanthine phosphoribosyltransferase 1 (HPRT1) missense mutations with Lesch-Nyhan disease and HPRT1-related gout were investigated using both wild-type and mutant HPRT. | 30831305 |
| 2019-12-21 10:28:00 | PPIA, HPRT1, and YWHAZ Genes Are Suitable for Normalization of mRNA Expression in Long-Term Expanded Human | 31240211 |
| 2018-07-21 10:32:00 | 75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity). | 28904386 |
| 2018-01-06 11:11:00 | mutation in the human HPRT1 gene and the Lesch-Nyhan disease | 29185864 |
| Type | IDs |
|---|---|
| Synonymous | HGPRT, HPRT |
| Gene |
UniProtKB-ID:
HPRT_HUMAN,
A0A140VJL3_HUMAN
UniprotKB:
P00492,
A0A140VJL3
UniParc:
UPI00000004D7
EMBL:
AY780550,
BC000578,
AK313435,
BT019350,
S60300,
L29383,
M26434,
S79313,
M12452,
L29382,
CH471107,
AC004383,
HM005402,
M31642
Ensembl:
ENSG00000165704
KO:
hsa:3251
|
| Nucleutide sequences |
EMBL-CDS:
AAB21289.1,
AAA52690.1,
AAA36012.1,
EAX11761.1,
AAA52691.1,
AAC60591.2,
AAB59392.1,
AAV31777.1,
AAV38157.1,
AAH00578.1,
AAB59391.1,
BAG36226.1,
AEE61000.1
Ensembl_TRS:
ENST00000298556
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000298556
RefSeq:
NP_000185.1
|
| Others |
UniRef100:
UniRef100_P00492
UniRef90:
UniRef90_P00492
UniRef50:
UniRef50_P00492
UniGene:
Hs.412707
CCDS:
CCDS14641.1
|
| {{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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