| Type | Description |
|---|---|
| Definition | WD repeat domain 45 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 10:25:00 | Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. Novel mutation in WDR45 impaired autophagy in cells thus this mutation is the cause for BPAN in this patient. | 31332960 |
| 2019-07-06 10:31:00 | Our data suggest that iron-containing macromolecules and organelles cannot effectively be degraded through the lysosomal pathway due to loss of WDR45 function | 30169597 |
| 2019-03-09 11:01:00 | Novel missense mutations in WDR45 were identified in female pediatric patients with developmental delay and/or epilepsy. Arg134Pro and p. Gly168Glu mutations showed accumulation of LC3-containing autophagic structures and enlarged cell volume in HeLa cells. | 29981852 |
| 2018-12-22 11:40:00 | WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy | 28561066 |
| 2018-09-15 12:21:00 | This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. | 29171013 |
| Type | IDs |
|---|---|
| Synonymous | JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4 |
| Gene |
UniProtKB-ID:
WIPI4_HUMAN,
A0A024QYX1_HUMAN
UniprotKB:
Q9Y484,
A0A024QYX1
UniParc:
UPI000035B01F,
UPI000059DB1B,
UPI0000071006
EMBL:
BC000464,
CR456725,
AJ005897,
AF196779,
AY691428,
BC003037,
BC069206,
BC009027,
CH471224
Ensembl:
ENSG00000196998
KO:
hsa:11152
|
| Nucleutide sequences |
EMBL-CDS:
AAH69206.1,
CAA06754.1,
AAH00464.1,
AAV80764.1,
EAW50697.1,
EAW50702.1,
AAH03037.1,
CAG33006.1,
AAH09027.1,
EAW50700.1,
EAW50701.1,
EAW50703.1,
EAW50695.1,
EAW50699.1
Gene_ORFName:
JM5,
hCG_1986580
Ensembl_TRS:
ENST00000634944,
ENST00000376368,
ENST00000356463,
ENST00000376372,
ENST00000322995
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365551,
ENSP00000365546,
ENSP00000365543,
ENSP00000488972,
ENSP00000348848
RefSeq:
NP_009006.2,
NP_001025067.1
|
| Others |
UniRef100:
UniRef100_Q9Y484
UniRef90:
UniRef90_Q9Y484
UniRef50:
UniRef50_Q9Y484
UniGene:
Hs.632807
CCDS:
CCDS35250.1,
CCDS14318.1
|
| {{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