Q9GZU5 · NYX_HUMAN
- ProteinNyctalopin
- GeneNYX
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids476 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | extracellular matrix | |
Cellular Component | extracellular space | |
Biological Process | visual perception |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNyctalopin
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9GZU5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Night blindness, congenital stationary, 1A (CSNB1A)
- Note
- DescriptionA non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.
- See alsoMIM:310500
Natural variants in CSNB1A
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_014084 | 24-31 | missing | in CSNB1A | |
VAR_013867 | 26 | C>S | in CSNB1A; dbSNP:rs62637020 | |
VAR_014085 | 96 | missing | in CSNB1A | |
VAR_014086 | 109-113 | missing | in CSNB1A | |
VAR_013868 | 138 | A>P | in CSNB1A; dbSNP:rs62637023 | |
VAR_013869 | 146 | P>L | in CSNB1A; dbSNP:rs62637024 | |
VAR_014087 | 150 | L>LSVPERLL | in CSNB1A | |
VAR_013870 | 170 | P>R | in CSNB1A; dbSNP:rs62637025 | |
VAR_013871 | 179 | L>P | in CSNB1A; dbSNP:rs62637026 | |
VAR_013872 | 182 | A>K | in CSNB1A; requires 2 nucleotide substitutions; dbSNP:rs62637027 | |
VAR_014088 | 202 | R>RLLR | in CSNB1A | |
VAR_014089 | 204 | R>RCLR | in CSNB1A | |
VAR_013873 | 208 | L>Q | in CSNB1A; dbSNP:rs62637028 | |
VAR_013874 | 211 | N>S | in CSNB1A | |
VAR_013875 | 227 | L>P | in CSNB1A; dbSNP:rs62637030 | |
VAR_014090 | 238-241 | missing | in CSNB1A | |
VAR_013876 | 259 | N>K | in CSNB1A; dbSNP:rs62637032 | |
VAR_013877 | 280 | L>P | in CSNB1A; dbSNP:rs62637033 | |
VAR_013878 | 293 | F>S | in CSNB1A; dbSNP:rs62637034 | |
VAR_013879 | 302 | L>P | in CSNB1A | |
VAR_013880 | 307 | N>S | in CSNB1A; dbSNP:rs62637035 | |
VAR_013881 | 342 | L>P | in CSNB1A; dbSNP:rs62637036 | |
VAR_013882 | 365 | G>V | in CSNB1A; dbSNP:rs62637038 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_014084 | 24-31 | in CSNB1A | |||
Sequence: Missing | ||||||
Natural variant | VAR_013867 | 26 | in CSNB1A; dbSNP:rs62637020 | |||
Sequence: C → S | ||||||
Natural variant | VAR_014085 | 96 | in CSNB1A | |||
Sequence: Missing | ||||||
Natural variant | VAR_014086 | 109-113 | in CSNB1A | |||
Sequence: Missing | ||||||
Natural variant | VAR_013868 | 138 | in CSNB1A; dbSNP:rs62637023 | |||
Sequence: A → P | ||||||
Natural variant | VAR_013869 | 146 | in CSNB1A; dbSNP:rs62637024 | |||
Sequence: P → L | ||||||
Natural variant | VAR_014087 | 150 | in CSNB1A | |||
Sequence: L → LSVPERLL | ||||||
Natural variant | VAR_013870 | 170 | in CSNB1A; dbSNP:rs62637025 | |||
Sequence: P → R | ||||||
Natural variant | VAR_013871 | 179 | in CSNB1A; dbSNP:rs62637026 | |||
Sequence: L → P | ||||||
Natural variant | VAR_013872 | 182 | in CSNB1A; requires 2 nucleotide substitutions; dbSNP:rs62637027 | |||
Sequence: A → K | ||||||
Natural variant | VAR_014088 | 202 | in CSNB1A | |||
Sequence: R → RLLR | ||||||
Natural variant | VAR_014089 | 204 | in CSNB1A | |||
Sequence: R → RCLR | ||||||
Natural variant | VAR_013873 | 208 | in CSNB1A; dbSNP:rs62637028 | |||
Sequence: L → Q | ||||||
Natural variant | VAR_013874 | 211 | in CSNB1A | |||
Sequence: N → S | ||||||
Natural variant | VAR_013875 | 227 | in CSNB1A; dbSNP:rs62637030 | |||
Sequence: L → P | ||||||
Natural variant | VAR_014090 | 238-241 | in CSNB1A | |||
Sequence: Missing | ||||||
Natural variant | VAR_013876 | 259 | in CSNB1A; dbSNP:rs62637032 | |||
Sequence: N → K | ||||||
Natural variant | VAR_013877 | 280 | in CSNB1A; dbSNP:rs62637033 | |||
Sequence: L → P | ||||||
Natural variant | VAR_013878 | 293 | in CSNB1A; dbSNP:rs62637034 | |||
Sequence: F → S | ||||||
Natural variant | VAR_013879 | 302 | in CSNB1A | |||
Sequence: L → P | ||||||
Natural variant | VAR_013880 | 307 | in CSNB1A; dbSNP:rs62637035 | |||
Sequence: N → S | ||||||
Natural variant | VAR_013881 | 342 | in CSNB1A; dbSNP:rs62637036 | |||
Sequence: L → P | ||||||
Natural variant | VAR_013882 | 365 | in CSNB1A; dbSNP:rs62637038 | |||
Sequence: G → V | ||||||
Natural variant | VAR_052020 | 401 | in dbSNP:rs34169326 | |||
Sequence: A → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 658 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-18 | |||||
Sequence: MLVLLLHAVVLGLPSAWA | ||||||
Chain | PRO_0000032776 | 19-476 | Nyctalopin | |||
Sequence: VGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD | ||||||
Glycosylation | 92 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 178 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 295 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 388 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 427 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 434 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9GZU5 | JPH3 Q8WXH2 | 3 | EBI-12744849, EBI-1055254 | |
BINARY | Q9GZU5 | RBMX P38159 | 3 | EBI-12744849, EBI-743526 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 60-84 | LRR 1 | ||||
Sequence: VSIDLDRNGLRFLGERAFGTLPSLR | ||||||
Repeat | 85-108 | LRR 2 | ||||
Sequence: RLSLRHNNLSFITPGAFKGLPRLA | ||||||
Repeat | 110-133 | LRR 3 | ||||
Sequence: LRLAHNGDLRYLHARTFAALSRLR | ||||||
Repeat | 134-157 | LRR 4 | ||||
Sequence: RLDLAACRLFSVPERLLAELPALR | ||||||
Repeat | 159-181 | LRR 5 | ||||
Sequence: LAAFDNLFRRVPGALRGLANLTH | ||||||
Repeat | 182-204 | LRR 6 | ||||
Sequence: AHLERGRIEAVASSSLQGLRRLR | ||||||
Repeat | 205-228 | LRR 7 | ||||
Sequence: SLSLQANRVRAVHAGAFGDCGVLE | ||||||
Repeat | 229-252 | LRR 8 | ||||
Sequence: HLLLNDNLLAELPADAFRGLRRLR | ||||||
Repeat | 254-276 | LRR 9 | ||||
Sequence: LNLGGNALDRVARAWFADLAELE | ||||||
Repeat | 277-300 | LRR 10 | ||||
Sequence: LLYLDRNSIAFVEEGAFQNLSGLL | ||||||
Repeat | 302-324 | LRR 11 | ||||
Sequence: LHLNGNRLTVLAWVAFQPGFFLG | ||||||
Domain | 336-387 | LRRCT | ||||
Sequence: DCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEEL |
Sequence similarities
Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length476
- Mass (Da)51,470
- Last updated2024-01-24 v2
- Checksum4B9D85132AC63D37
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ278865 EMBL· GenBank· DDBJ | CAC19014.1 EMBL· GenBank· DDBJ | mRNA | ||
AF254868 EMBL· GenBank· DDBJ | AAG42685.1 EMBL· GenBank· DDBJ | mRNA | ||
Z93015 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471141 EMBL· GenBank· DDBJ | EAW59399.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471141 EMBL· GenBank· DDBJ | EAW59401.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC112242 EMBL· GenBank· DDBJ | AAI12243.1 EMBL· GenBank· DDBJ | mRNA |