RBP1

Chr 3

retinol binding protein 1

Also known as: CRABP-I, CRBP, CRBP1, CRBPI, RBPC, hCRBP1

NCBI Gene: 5947 ENSG00000114115 UniProt: O95153 OMIM: 180260

This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia 22, adult-onset

UniProtDystonia 22, juvenile-onset

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.70

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.70LOEUF

pLI 0.000

Z-score 0.04

OE 0.99 (0.57–1.70)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.62Z-score

OE missense 0.83 (0.70–0.99)

92 obs / 110.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.99 (0.57–1.70)

0≤0.351.4

Missense OE?0.83 (0.70–0.99)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 8 / 8.1Missense obs/exp: 92 / 110.5Syn Z: 0.01

Background carrier burden — how many people carry a rare variant somewhere in RBP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

294 rare PASS variants

Rare truncating (LoF)

1 in 1,500

63 rare PASS variants

Rare synonymous (reference)

1 in 300

104 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RBP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 180	1 in 1,700
South Asian	~43k	1 in 160	1 in 1,600
Remaining (unassigned)	~30k	1 in 220	1 in 860
European (Finnish)	~27k	1 in 1,300	1 in 5,100
Admixed American	~22k	1 in 360	1 in 1,900
African / African American	~21k	1 in 290	1 in 750
East Asian	~20k	1 in 270	1 in 760
Ashkenazi Jewish	~13k	1 in 480	none seen
Middle Eastern	~2,884	1 in 190	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓