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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Nyctalopin
Summary
- UniProt ID
- Q9GZU5
- Gene Symbol
-
- NYX
- CLRP
- Organism
- Homo sapiens (human)
External Links
Annotation
- Keyword
-
- Congenital stationary night blindness
- Disease variant
- Extracellular matrix
- Leucine-rich repeat
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Vision
- Gene Ontology (GO)
| GO Term |
|---|
| visual perception |
| response to stimulus |
| GO Term |
|---|
| extracellular space |
| extracellular matrix |
Sequence
MLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 92 | N-linked (GlcNAc...) asparagine |
|
||
| 178 | N-linked (GlcNAc...) asparagine |
|
||
| 295 | N-linked (GlcNAc...) asparagine |
|
||
| 388 | N-linked (GlcNAc...) asparagine |
|
||
| 427 | N-linked (GlcNAc...) asparagine |
|
||
| 434 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050534 | congenital stationary night blindness | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050817 | Stargardt disease | |
| DOID:0060215 | Balo concentric sclerosis | |
| DOID:0090059 | enhanced S-cone syndrome | |
| DOID:0110008 | achromatopsia 3 | |
| DOID:0110078 | Leber congenital amaurosis 1 | |
| DOID:0110865 | congenital stationary night blindness 1B | |
| DOID:0110870 | congenital stationary night blindness 1A | |
| DOID:0110871 | congenital stationary night blindness 2A |
