| Type | Description |
|---|---|
| Definition | CLN5 intracellular trafficking protein |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:52:00 | The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. | 30919163 |
| 2020-07-18 11:22:00 | This is the first report of whole gene deletion in combination with a novel pathogenic sequence variant in a CLN5 patient. The two mutations detected with whole exome sequencing simultaneously proved the advantage of the sequencing technology for genetic diagnostics | 32393339 |
| 2019-10-05 11:10:00 | This study demonstrated that Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis. | 30264640 |
| 2019-08-17 10:23:00 | The onset of visual deficits was much delayed. Computed tomography and MRI showed that brain structures and volumes remained stable. Because gene therapy in humans is more likely to begin after clinical diagnosis, self-complementary AAV9-CLN5 was injected into the brain ventricles of four 7-month-old affected sheep already showing early clinical signs in a second trial. | 30078766 |
| 2019-06-29 10:18:00 | We identified a missense variant in CLN5 c.A959G (p.Asn320Ser) that segregated with Alzheimer's disease. We find that this variant causes glycosylation defects in the expressed protein, which causes it to be retained in the endoplasmic reticulum with reduced delivery to the endolysosomal compartment, CLN5's normal cellular location. | 30037983 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
CLN5_HUMAN,
A0A024R644_HUMAN
UniprotKB:
O75503,
A0A024R644
UniParc:
UPI0000127AD8,
UPI0001722CE5
EMBL:
AK075109,
AC001226,
CH471093,
AF068227
Ensembl:
ENSG00000102805
KO:
hsa:1203
|
| Nucleutide sequences |
EMBL-CDS:
AAC27614.1,
BAG52069.1,
EAW80562.1,
EAW80561.1
Gene_ORFName:
hCG_28176
Ensembl_TRS:
ENST00000636183,
ENST00000377453
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000366673,
ENSP00000490181
RefSeq:
NP_001353553.1,
NP_006484.2
|
| Others |
UniRef100:
UniRef100_O75503
UniRef90:
UniRef90_O75503
UniRef50:
UniRef50_O75503
UniGene:
Hs.30213
CCDS:
CCDS9456.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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