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MIRAGE
Tetratricopeptide repeat protein 8
Summary
- UniProt ID
- Q8TAM2
- Gene Symbol
-
- BBS8
- TTC8
- Gene ID
- 123016
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Bardet-Biedl syndrome
- Cell membrane
- Cilium
- Cilium biogenesis/degradation
- Cytoskeleton
- Disease variant
- Intellectual disability
- Obesity
- Protein transport
- Reference proteome
- Repeat
- Retinitis pigmentosa
- TPR repeat
- Gene Ontology (GO)
| GO Term |
|---|
| BBSome |
| mitochondrion |
| cilium |
| cytosol |
| centrosome |
| photoreceptor connecting cilium |
| ciliary basal body |
| non-motile cilium |
| centriolar satellite |
| ciliary membrane |
| GO Term |
|---|
| RNA polymerase II-specific DNA-binding transcription factor binding |
Sequence
MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML
Glycosylation Sites
G28681TP
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| BBSome-mediated cargo-targeting to cilium | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110130 | Bardet-Biedl syndrome 8 | |
| DOID:0110398 | retinitis pigmentosa 51 | |
| DOID:1935 | Bardet-Biedl syndrome |
