| Type | Description |
|---|---|
| Definition | prune exopolyphosphatase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-13 15:35:00 | The PRUNE gene should be considered in all the individuals with non-5q spinal muscular atrophy. High creatine kinase values may be a part of PRUNE disease spectrum. | 32134588 |
| 2020-02-08 12:39:00 | Exome sequencing and homozygosity mapping identified a homozygous PRUNE1 mutation in a canonical splice site, which produces two abnormal PRUNE1 mRNA products. Based on our studies and the histopathology and phenotypic data, we provide further evidence that this disorder leads to a neurodegenerative disease affecting both the peripheral and central nervous systems and suggest that the pathogenic c.521-2A>G mutation could | 30556349 |
| 2019-11-02 10:53:00 | show that mutant PRUNE1 mRNA can be subject to nonsense-mediated mRNA decay | 29797509 |
| 2019-10-26 10:43:00 | PRUNE1 deficiency causes severe early-onset disease affecting the central and peripheral nervous systems. | 29940663 |
| 2019-07-13 11:45:00 | This study demonstrated that the role for PRUNE1 in metastatic MBGroup3. | 29490009 |
| Type | IDs |
|---|---|
| Synonymous | DRES-17, DRES17, H-PRUNE, HTCD37, NMIHBA, PRUNE |
| Gene |
UniProtKB-ID:
PRUN1_HUMAN
UniprotKB:
Q86TP1
UniParc:
UPI000006F7C4,
UPI00002041EF,
UPI00019B2215,
UPI0000072AB2,
UPI0000227E30,
UPI000004BF0B,
UPI00002041EE
EMBL:
CH471121,
U67085,
AL590133,
BC014886,
AF051907,
AF123538,
AK298273,
AK294154,
BC025304,
AK315120,
AL122054,
AF123539,
BC063481,
AK027875
Ensembl:
ENSG00000143363
KO:
hsa:58497
|
| Nucleutide sequences |
EMBL-CDS:
AAK00593.1,
EAW53489.1,
AAH63481.1,
AAC95290.1,
EAW53486.1,
BAG57478.1,
AAH25304.1,
BAG37575.1,
AAF04914.1,
AAK00592.1,
EAW53488.1,
CAH56396.1,
AAH14886.1,
BAG60534.1,
BAB55423.1
Ensembl_TRS:
ENST00000368934,
ENST00000368937,
ENST00000368936,
ENST00000368935,
ENST00000271620
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000271620,
ENSP00000357930,
ENSP00000357932,
ENSP00000357933,
ENSP00000357931
RefSeq:
NP_001290172.1,
XP_011508134.1,
XP_005245450.1,
NP_001290171.1,
XP_016857444.1,
NP_067045.1,
XP_016857446.1,
NP_001290158.1,
XP_016857445.1
|
| Others |
UniRef100:
UniRef100_Q86TP1
UniRef90:
UniRef90_Q86TP1
UniRef50:
UniRef50_Q86TP1
UniGene:
Hs.78524
CCDS:
CCDS977.1,
CCDS76211.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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