CRABP1

Chr 15

cellular retinoic acid binding protein 1

Also known as: CRABP, CRABP-I, CRABPI, RBP5

NCBI Gene: 1381 ENSG00000166426 UniProt: P29762 OMIM: 180230

This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.44

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.44LOEUF

pLI 0.006

Z-score 0.83

OE 0.64 (0.31–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.80Z-score

OE missense 0.76 (0.62–0.93)

64 obs / 84.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.64 (0.31–1.44)

0≤0.351.4

Missense OE?0.76 (0.62–0.93)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 4 / 6.2Missense obs/exp: 64 / 84.6Syn Z: -0.02

Background carrier burden — how many people carry a rare variant somewhere in CRABP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 530

173 rare PASS variants

Rare truncating (LoF)

1 in 11,000

22 rare PASS variants

Rare synonymous (reference)

1 in 270

77 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CRABP1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 880	1 in 16,000
South Asian	~43k	1 in 340	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 790	≈ 1 in 30,000
European (Finnish)	~27k	1 in 1,300	≈ 1 in 13,000
Admixed American	~22k	1 in 700	1 in 2,300
African / African American	~21k	1 in 510	≈ 1 in 17,000
East Asian	~20k	1 in 940	≈ 1 in 20,000
Middle Eastern	~2,884	≈ 1 in 690	none seen

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 ↓