| Type | Description |
|---|---|
| Definition | phosphodiesterase 6D |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 10:53:00 | The variant was confirmed by Sanger sequencing and found at the heterozygous state in both parents. A review of the literature pertaining to the role of PDE6D in Joubert syndrome is discussed. | 30423442 |
| 2018-03-03 11:48:00 | PDE6delta binds selectively to the C-terminus of RPGR and that this interaction is critical for RPGR's localization to cilia. | 28172980 |
| 2017-07-15 10:26:00 | Studies indicate that the binding of UNC119 and PDE6D, to the lipid-modified ciliary cargo and the specific release of the cargo in the cilia by the ciliary small G-protein Arl3 in a GTP-dependent manner. | 27911709 |
| 2014-08-09 11:58:00 | Study identifies PDE6D as a novel Joubert syndrome gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies. | 24166846 |
| 2013-10-26 12:38:00 | RPGR is acting as a scaffold protein recruiting cargo-loaded PDE6D and Arl3 to release lipidated cargo into cilia. | 23559067 |
| Type | IDs |
|---|---|
| Synonymous | JBTS22, PDED |
| Gene |
UniProtKB-ID:
PDE6D_HUMAN,
B8ZZK5_HUMAN,
Q6IB24_HUMAN
UniprotKB:
O43924,
B8ZZK5,
Q6IB24
UniParc:
UPI00002097D2,
UPI0000000C8B
EMBL:
AC073476,
AF045999,
CR456980,
AF042835,
BT007278,
AF042833,
BC007831,
AJ001626,
AF022912,
AF042834,
CH471063
Ensembl:
ENSG00000156973
KO:
hsa:5147
|
| Nucleutide sequences |
EMBL-CDS:
AAC25953.1,
CAA04880.1,
AAP35942.1,
AAB87872.1,
AAC39720.1,
AAH07831.1,
EAW70977.1,
AAY24151.1,
EAW70978.1,
CAG33261.1
Gene_ORFName:
hCG_32951,
hCG_32951
Ensembl_TRS:
ENST00000287600,
ENST00000409772
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000287600,
ENSP00000387108
RefSeq:
XP_011509644.1,
NP_001277947.1,
NP_002592.1
|
| Others |
UniRef100:
UniRef100_O43924,
UniRef100_B8ZZK5
UniRef90:
UniRef90_O43924,
UniRef90_A0A2I3LCF7
UniRef50:
UniRef50_O43924,
UniRef50_A0A2I3LCF7
UniGene:
Hs.516808
CCDS:
CCDS33398.1
|
| {{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