nyctalopin (NYX, CLRP)

Structure: - belongs to the small leucine-rich proteoglycan family, class IV subfamily - contains 11 LRR repeates (leucine-rich repeats) Compartment: secreted protein, extracellular matrix Expression: - expressed in kidney & retina - low levels in brain, testis, muscle - within the retina, expressed in inner segment of photoreceptors, outer & inner nuclear layers & the ganglion cell layer Pathology: - defects in NYX are the cause of congenital stationary night blindness type 1

General

glycoprotein matrix protein

Properties

SIZE: MW = 52 kD entity length = 481 aa COMPARTMENT: extracellular matrix MOTIF: signal sequence {1-23} cysteine-rich region {27-48} leucine-rich repeat SITE: 60-84 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 85-108 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N97} leucine-rich repeat SITE: 110-133 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 134-157 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 159-180 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 181-204 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N183} leucine-rich repeat SITE: 205-228 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 229-252 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 254-276 MOTIF: leucine residue (SEVERAL) leucine-rich repeat SITE: 277-300 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N300} leucine-rich repeat SITE: 316-338 MOTIF: leucine residue (SEVERAL) N-glycosylation site {N393} N-glycosylation site {N432} N-glycosylation site {N439}

Database Correlations

OMIM correlations MORBIDMAP 300278 UniProt Q9GZU5 PFAM correlations