InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NYX

Summary

InnateDB Protein

IDBP-57574.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NYX

Protein Name

nyctalopin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367465

InnateDB Gene

IDBG-57570 (NYX)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]: A 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. {ECO:0000269PubMed:11062471, ECO:0000269PubMed:11062472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer. {ECO:0000269PubMed:11062471, ECO:0000269PubMed:11062472}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0008150	biological_process
GO:0050896	response to stimulus

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005622	intracellular

Protein Structure and Domains

PDB ID

InterPro

IPR000372 Leucine-rich repeat-containing N-terminal
IPR000483 Cysteine-rich flanking region, C-terminal
IPR001611 Leucine-rich repeat
IPR003591 Leucine-rich repeat, typical subtype

PFAM

PF01462
PF01463
PF00560
PF13504
PF13855

PRINTS

PIRSF

SMART

SM00013
SM00082
SM00369

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9GZU5