| Type | Description |
|---|---|
| Definition | WASH complex subunit 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-05 13:02:00 | SPG8 mutations in Italian families: clinical data and literature review. | 31814071 |
| 2019-08-17 10:09:00 | clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia | 31055811 |
| 2017-01-14 10:44:00 | A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8. | 26967522 |
| 2016-07-30 10:28:00 | A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans. | 26965651 |
| 2015-04-11 13:18:00 | Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. | 24824269 |
| Type | IDs |
|---|---|
| Synonymous | KIAA0196, RTSC, RTSC1, SPG8 |
| Gene |
UniProtKB-ID:
WASC5_HUMAN,
E7EQI7_HUMAN
UniprotKB:
Q12768,
E7EQI7
UniParc:
UPI0001E8F2E2,
UPI000013943B
EMBL:
AK291032,
BC106015,
AC126366,
BC026951,
AC009908,
CH471060,
D83780
Ensembl:
ENSG00000164961
KO:
hsa:9897
|
| Nucleutide sequences |
EMBL-CDS:
AAI06016.1,
BAF83721.1,
EAW92081.1,
BAA12109.2,
AAH26951.1
Ensembl_TRS:
ENST00000318410,
ENST00000517845
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000318016,
ENSP00000429676
RefSeq:
XP_016869602.1,
NP_001317538.1,
NP_055661.3,
XP_011515711.1
|
| Others |
UniRef100:
UniRef100_Q12768
UniRef90:
UniRef90_Q12768
UniRef50:
UniRef50_Q12768
UniGene:
Hs.270043
CCDS:
CCDS6355.1
|
| {{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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