NYX

Protein identityUniProt · HPA

UniProt accession

Q9GZU5

Gene

NYX

Ensembl

ENSG00000188937

Chromosome

X

Canonical length

476 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

476 residues, UniProt reviewed canonical sequence.

>Q9GZU5|NYX
     1  MLVLLLHAVV LGLPSAWAVG ACARACPAAC ACSTVERGCS VRCDRAGLLR VPAELPCEAV
    61  SIDLDRNGLR FLGERAFGTL PSLRRLSLRH NNLSFITPGA FKGLPRLAEL RLAHNGDLRY
   121  LHARTFAALS RLRRLDLAAC RLFSVPERLL AELPALRELA AFDNLFRRVP GALRGLANLT
   181  HAHLERGRIE AVASSSLQGL RRLRSLSLQA NRVRAVHAGA FGDCGVLEHL LLNDNLLAEL
   241  PADAFRGLRR LRTLNLGGNA LDRVARAWFA DLAELELLYL DRNSIAFVEE GAFQNLSGLL
   301  ALHLNGNRLT VLAWVAFQPG FFLGRLFLFR NPWCCDCRLE WLRDWMEGSG RVTDVPCASP
   361  GSVAGLDLSQ VTFGRSSDGL CVDPEELNLT TSSPGPSPEP AATTVSRFSS LLSKLLAPRV
   421  PVEEAANTTG GLANASLSDS LSSRGVGGAG RQPWFLLASC LLPSVAQHVV FGLQMD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NYX can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

0.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NYX.

Disease | AllUniProt

Conditions NYX is implicated in, by any mechanism.

• Night blindness, congenital stationary, 1A (CSNB1A) MIM:310500

Disease | GeneticClinVar

54 pathogenic / likely-pathogenic of 481 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinal dystrophy
• Congenital stationary night blindness 1A
• Congenital stationary night blindness
• NYX-related disorder
• Abnormality of the eye

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0.13

gnomAD missense Z

2.11

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• visual perception

Molecular functions

• signaling receptor activity

Cellular components

• dendrite
• postsynapse

Protein domainsUniProt · Pfam · InterPro

• Cysteine-rich flanking region, C-terminal
• Leucine-rich repeat
• Leucine-rich repeat, typical subtype
• Leucine-rich repeat domain superfamily
• Leucine-rich repeat and transmembrane domain-containing protein
• Leucine rich repeat

KeywordsUniProt

• Cell projection
• Congenital stationary night blindness
• Extracellular matrix
• Glycoprotein
• Leucine-rich repeat
• Proteoglycan
• Repeat
• Secreted
• Sensory transduction
• Signal
• Synapse
• Vision

InteractionsUniProt · HPA

Protein binding partners of NYX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GRM6
• TRPM1