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Repository for lectin-assisted multimodality data
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GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
Meckelin
Summary
- UniProt ID
- Q5HYA8
- Gene Symbol
-
- MKS3
- TMEM67
- Gene ID
- 91147
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Bardet-Biedl syndrome
- Cell membrane
- Cilium
- Cilium biogenesis/degradation
- Coiled coil
- Cytoskeleton
- Deafness
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Intellectual disability
- Joubert syndrome
- Meckel syndrome
- Nephronophthisis
- Obesity
- Reference proteome
- Retinitis pigmentosa
- Signal
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| ciliary membrane |
| MKS complex |
| cytoplasmic vesicle membrane |
| endoplasmic reticulum membrane |
| centrosome |
| ciliary transition zone |
| GO Term |
|---|
| cilium assembly |
| negative regulation of centrosome duplication |
| non-canonical Wnt signaling pathway |
| ERAD pathway |
| GO Term |
|---|
| unfolded protein binding |
| filamin binding |
Sequence
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 141 | N-linked (GlcNAc...) asparagine |
|
||
| 179 | N-linked (GlcNAc...) asparagine | |||
| 242 | N-linked (GlcNAc...) asparagine |
|
||
| 318 | N-linked (GlcNAc...) asparagine |
|
G83460ZZ
G80920RR
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Anchoring of the basal body to the plasma membrane | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070117 | Meckel syndrome 3 | |
| DOID:0110136 | Bardet-Biedl syndrome 14 | |
| DOID:0111001 | Joubert syndrome 6 | |
| DOID:0111118 | nephronophthisis 11 | |
| DOID:0111589 | COACH syndrome | |
| DOID:10762 | portal hypertension | |
| DOID:12270 | coloboma | |
| DOID:12712 | nephronophthisis | |
| DOID:1935 | Bardet-Biedl syndrome |
