Type | Description |
---|---|
Definition | pseudouridine synthase 7 |
Date | Results | Publications |
---|---|---|
2020-06-13 10:23:00 | Pseudouridine synthase 7 is a nuclear protein involved in stem cell development and intellectual disabilities, and is a novel interactor of SIRT1. The binding regions are predicted and analyzed based on molecular docking studies. The direct interaction occurs between SIRT1 and PUS7, as evidenced by pull-down studies and surface plasmon resonance (SPR) assay. | 31451225 |
2019-03-30 11:53:00 | Our results confirm that PUS7 is a bona fide Mendelian disease gene and expand the list of human diseases caused by impaired pseudouridylation. | 30778726 |
2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
Type | IDs |
---|---|
Gene |
UniProtKB-ID:
PUS7_HUMAN,
B3KRB2_HUMAN,
B3KY42_HUMAN
UniprotKB:
Q96PZ0,
B3KRB2,
B3KY42
UniParc:
UPI00004A29AD,
UPI00001D483E,
UPI00003E2868,
UPI0000E0AF5C
EMBL:
BC011396,
AC073138,
AK000492,
AC074013,
AB067484,
AK091283,
AK128629,
BC005209
Ensembl:
ENSG00000091127
KO:
hsa:54517
|
Nucleutide sequences |
EMBL-CDS:
AAS07447.1,
BAB67790.1,
AAH11396.2,
BAA91203.1,
AAH05209.3,
BAG52324.1,
BAG54704.1
Ensembl_TRS:
ENST00000356362,
ENST00000469408
|
Protein sequencees |
Ensembl_PRO:
ENSP00000417402,
ENSP00000348722
RefSeq:
XP_011514638.1,
XP_005250519.1,
NP_061915.2,
NP_001305092.1,
XP_016867856.1,
NP_001305093.1,
XP_016867857.1
|
Others |
UniRef100:
UniRef100_Q96PZ0,
UniRef100_B3KRB2,
UniRef100_B3KY42
UniRef90:
UniRef90_Q96PZ0
UniRef50:
UniRef50_Q96PZ0
UniGene:
Hs.520619
CCDS:
CCDS34725.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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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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