RLBP1

Protein identityUniProt · HPA

UniProt accession

P12271

Gene

RLBP1

Ensembl

ENSG00000140522

Chromosome

15

Canonical length

317 aa

Protein class

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

Subcellular location

Nucleoplasm,Centrosome,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

317 residues, UniProt reviewed canonical sequence.

>P12271|RLBP1
     1  MSEGVGTFRM VPEEEQELRA QLEQLTTKDH GPVFGPCSQL PRHTLQKAKD ELNEREETRE
    61  EAVRELQEMV QAQAASGEEL AVAVAERVQE KDSGFFLRFI RARKFNVGRA YELLRGYVNF
   121  RLQYPELFDS LSPEAVRCTI EAGYPGVLSS RDKYGRVVML FNIENWQSQE ITFDEILQAY
   181  CFILEKLLEN EETQINGFCI IENFKGFTMQ QAASLRTSDL RKMVDMLQDS FPARFKAIHF
   241  IHQPWYFTTT YNVVKPFLKS KLLERVFVHG DDLSGFYQEI DENILPSDFG GTLPKYDGKA
   301  VAEQLFGPQA QAENTAF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RLBP1 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

246 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RLBP1.

Disease | AllUniProt

Conditions RLBP1 is implicated in, by any mechanism.

• Bothnia retinal dystrophy (BRD) MIM:607475
• Rod-cone dystrophy Newfoundland (NFRCD) MIM:607476
• Retinitis punctata albescens (RPA) MIM:136880

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 424 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bothnia retinal dystrophy
• Retinitis pigmentosa
• Pigmentary retinal dystrophy
• Newfoundland cone-rod dystrophy
• Retinal dystrophy

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)

1.08

gnomAD pLI

0

gnomAD missense Z

-0.31

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• visual perception
• vitamin A metabolic process

Molecular functions

• 11-cis retinal binding
• phosphatidylinositol bisphosphate binding
• retinol binding

Cellular components

• cell body
• centrosome
• cytosol
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• CRAL-TRIO lipid binding domain
• CRAL/TRIO, N-terminal domain
• CRAL/TRIO, N-terminal domain superfamily
• CRAL-TRIO lipid binding domain superfamily
• CRAL/TRIO domain
• CRAL/TRIO, N-terminal domain

KeywordsUniProt

• Acetylation
• Cytoplasm
• Retinol-binding
• Sensory transduction
• Transport
• Vision

InteractionsUniProt · HPA

Protein binding partners of RLBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DEGS1