| Type | Description |
|---|---|
| Definition | sorting nexin 14 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 10:46:00 | Snx14, an endoplasmic reticulum-resident protein associated with the cerebellar ataxia SCAR20, localizes to ER-LD contacts following fatty acid treatment, where it promotes lipid droplet maturation. | 30765438 |
| 2019-02-16 10:12:00 | We therefore identify an important role for SNX14 in neutral lipid homeostasis between the endoplasmic reticulum , lysosomes and lipid droplets that may provide an early intervention target to alleviate the clinical symptoms of autosomal recessive cerebellar ataxia 20 (SCAR20). | 29635513 |
| 2017-02-18 10:17:00 | Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families | 27913285 |
| 2015-07-25 10:08:00 | A unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. | 25848753 |
| 2015-02-07 10:06:00 | SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking. | 25148684 |
| Type | IDs |
|---|---|
| Synonymous | RGS-PX2, SCAR20 |
| Gene |
UniProtKB-ID:
SNX14_HUMAN
UniprotKB:
Q9Y5W7
UniParc:
UPI0000E2106F,
UPI000013F8C8,
UPI000013CF86,
UPI0001AE4F35
EMBL:
CH471051,
AL136082,
AY044865,
AK295417,
AF121863,
AL589666,
BC095419,
BC068589,
BC005110,
BC046520
Ensembl:
ENSG00000135317
KO:
hsa:57231
|
| Nucleutide sequences |
EMBL-CDS:
BAG58367.1,
AAK97796.1,
AAH46520.1,
EAW48631.1,
AAH68589.1,
AAD27836.1,
AAH05110.2,
AAH95419.1
Ensembl_TRS:
ENST00000505648,
ENST00000346348,
ENST00000314673,
ENST00000369627
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000427380,
ENSP00000257769,
ENSP00000358641,
ENSP00000313121
RefSeq:
NP_001337461.1,
NP_001337480.1,
NP_001337472.1,
NP_001337479.1,
NP_065201.1,
NP_001337471.1,
NP_001284543.1,
NP_001337466.1,
NP_001337473.1,
XP_024302266.1,
XP_016866579.1,
NP_001337475.1,
XP_011534279.1,
NP_001337478.1,
NP_001337469.1,
NP_001337467.1,
NP_001337474.1,
NP_001337476.1,
NP_001337481.1,
NP_001337462.1,
NP_001337463.1,
XP_024302267.1,
NP_001337468.1,
NP_001337482.1,
NP_722523.1,
NP_001337465.1,
NP_001291408.1,
NP_001337470.1,
NP_001337464.1,
NP_001337477.1
|
| Others |
UniRef100:
UniRef100_Q9Y5W7
UniRef90:
UniRef90_Q9Y5W7
UniRef50:
UniRef50_Q9Y5W7
UniGene:
Hs.485871
CCDS:
CCDS78163.1,
CCDS5004.1,
CCDS75490.1,
CCDS5003.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员