| Type | Description |
|---|---|
| Definition | intraflagellar transport 52 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 11:48:00 | our data allowed to have a better comprehensive overview of the genotype/phenotype correlation associated to IFT52 mutations and shed light on a novel function of IFT52 on centriole cohesion via the regulation of microtubule anchorage and dynamics. | 31042281 |
| 2019-04-20 11:29:00 | This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy and demonstrates its deleterious nature in interrupting primary ciliary function. | 30242358 |
| 2017-07-22 11:19:00 | The data identify a new locus for short-rib polydactyly syndromes (SRPS) and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton. | 27466190 |
| 2017-07-08 12:53:00 | Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52 | 26880018 |
| Type | IDs |
|---|---|
| Synonymous | C20orf9, CGI-53, NGD2, NGD5 |
| Gene |
UniProtKB-ID:
IFT52_HUMAN
UniprotKB:
Q9Y366
UniParc:
UPI0000001C8B
EMBL:
AK001436,
CH471077,
Z98752,
AF151811,
AL121886,
BC039831
Ensembl:
ENSG00000101052
KO:
hsa:51098
|
| Nucleutide sequences |
EMBL-CDS:
EAW75954.1,
AAD34048.1,
AAH39831.1,
EAW75953.1,
BAG50913.1
Gene_ORFName:
CGI-53
Ensembl_TRS:
ENST00000373039,
ENST00000373030
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362130,
ENSP00000362121
RefSeq:
NP_001310508.1,
NP_001310509.1,
NP_001290387.1,
NP_001310510.1,
NP_001290388.1,
NP_001310507.1,
NP_057088.2,
XP_016883352.1
|
| Others |
UniRef100:
UniRef100_Q9Y366
UniRef90:
UniRef90_Q9Y366
UniRef50:
UniRef50_Q9Y366
UniGene:
Hs.444332
CCDS:
CCDS33470.1
|
| {{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