| Type | Description |
|---|---|
| Definition | ring finger protein 170 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-18 10:11:00 | mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families and functionally evaluate the consequences of mutations in patient fibroblasts and mutant SH-SY5Y cells. Our findings highlight inositol 1,4,5-trisphosphate signaling as a candidate key pathway for hereditary spastic paraplegias. | 31636353 |
| 2015-08-22 10:49:00 | aberrant ubiquitination of substrates, or cellular adaptation to chronically reduced RNF170 levels likely accounts for the autosomal dominant sensory ataxia-associated Ca2+ signaling deficit | 25882839 |
| 2011-09-10 12:09:00 | RNF170 plays an essential role in IP(3) receptor processing via the ubiquitin-proteasome pathway. | 21610068 |
| 2011-04-16 11:08:00 | Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia | 21115467 |
| Type | IDs |
|---|---|
| Synonymous | ADSA, SNAX1 |
| Gene |
UniProtKB-ID:
RN170_HUMAN
UniprotKB:
Q96K19
UniParc:
UPI000006DB85,
UPI0000070FAB,
UPI0000F3BE62,
UPI000013CAA2,
UPI00001A92F6,
UPI0000E5AEA9
EMBL:
BC032393,
BC039461,
BC044566,
AC087533,
AK027748,
AF209504,
BC013422,
BC058289,
CH471080,
AC009634,
AL136620,
AK090864
Ensembl:
ENSG00000120925
KO:
hsa:81790
|
| Nucleutide sequences |
EMBL-CDS:
BAB55340.1,
AAM92891.1,
AAH44566.1,
AAH13422.1,
BAC03534.1,
EAW63203.1,
AAH32393.1,
AAH39461.1,
CAB66555.1,
EAW63201.1
Ensembl_TRS:
ENST00000526349,
ENST00000319073,
ENST00000534961,
ENST00000527424,
ENST00000319104,
ENST00000240159
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000435782,
ENSP00000240159,
ENSP00000326138,
ENSP00000445725,
ENSP00000325969,
ENSP00000434797
RefSeq:
NP_112216.3,
XP_006716467.1,
NP_001153695.1,
XP_011542968.1,
XP_016869370.1,
NP_001153697.1,
NP_001153696.1,
XP_006716468.1,
XP_016869371.1
|
| Others |
UniRef100:
UniRef100_Q96K19
UniRef90:
UniRef90_Q96K19
UniRef50:
UniRef50_Q96K19
UniGene:
Hs.491626
CCDS:
CCDS55229.1,
CCDS6138.1,
CCDS55230.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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