| Type | Description |
|---|---|
| Definition | polyribonucleotide nucleotidyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 12:40:00 | PNPT1-related disorders may constitute a spectrum rather than distinct phenotypes. | 30244537 |
| 2019-08-03 10:26:00 | Our cases expand the phenotypic spectrum of PNPT1 mutations that can cause delayed myelination. | 28594066 |
| 2019-07-13 10:54:00 | The disease-linked human PNPase mutants, Q387R and E475G, form dimers, not trimers, and have significantly lower RNA binding and degradation activities compared to wild-type. The S1 domain is responsible for binding structured RNAs. The RNA-binding K homology and S1 domains are inaccessible in the dimeric assembly. Mutations at the trimeric PNPase interface produce a dimeric protein with destructsive RNA-binding surfaces. | 30020492 |
| 2018-01-13 12:18:00 | The PNPT1 p.Arg136His and p.Pro140Leu variants in our subject showed 1) the mutated amino acids are highly conserved and our structural analysis supported them to be functionally deleterious; 2) The carrier frequencies of the variants are very low in populations (1:60.000), with no homozygous carriers found; 3) The RC complex amounts in the subject's myoblasts were functionally rescued by expression of wild-type PNPT1. | 28645153 |
| 2017-09-09 12:11:00 | Inhibition of homologous PNPase by citrate may represent an evolutionarily conserved communicative link between RNA degradation and central metabolism. | 28334892 |
| Type | IDs |
|---|---|
| Synonymous | COXPD13, DFNB70, OLD35, PNPASE, old-35 |
| Gene |
UniProtKB-ID:
PNPT1_HUMAN
UniprotKB:
Q8TCS8
UniParc:
UPI000020848E
EMBL:
BC000862,
AJ458465,
AY290863,
AC015982,
CR749867,
BC005986,
AY027528,
BC053660
Ensembl:
ENSG00000138035
KO:
hsa:87178
|
| Nucleutide sequences |
EMBL-CDS:
AAH05986.1,
AAK13047.1,
AAH53660.1,
CAH18709.1,
CAD30289.1,
AAY24271.1,
AAP44472.1,
AAH00862.2
Ensembl_TRS:
ENST00000447944,
ENST00000415374
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000400646,
ENSP00000393953
RefSeq:
XP_005264686.1,
NP_149100.2,
XP_016860661.1
|
| Others |
UniRef100:
UniRef100_Q8TCS8
UniRef90:
UniRef90_Q8TCS8
UniRef50:
UniRef50_Q8TCS8
UniGene:
Hs.388733
CCDS:
CCDS1856.1
|
| {{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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