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retinaldehyde-binding protein 1; cellular retinaldehyde-binding protein (RLBP1 CRALBP)

Function: - carries 11-cis-retinol & 11-cis-retinaldehyde as endogenous ligands & may be a functional component of the visual cycle Structure: contains 1 CRAL-TRIO domain Compartment: cytoplasm Expression: retina & pineal gland Pathology: - defects in RLBP1 are a cause of: a) retinitis pigmentosa autosomal recessive b) fundus albipunctatus - defects in RLBP1 are the cause of a) Bothnia retinal dystrophy b) Newfoundland rod-cone dystrophy

General

other protein

Properties

SIZE: entity length = 317 aa MW = 36 kD COMPARTMENT: cytoplasm MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl CRAL-TRIO lipid binding domain {136-297}

Database Correlations

OMIM correlations UniProt P12271 PFAM correlations Entrez Gene 6017 Kegg hsa:6017

References

  1. UniProt :accession P12271
  2. Mutations of the RLBP1 gene Retina International's scientific newsletter http://www.retina-international.com/sci-news/cralbp.htm
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RLBP1