BAG1

Chr 9

BAG cochaperone 1

Also known as: BAG-1, HAP, RAP46

BAG1 encodes a co-chaperone protein that facilitates HSP70/HSC70 chaperone function by promoting nucleotide exchange and client protein release, while also enhancing the anti-apoptotic effects of BCL2. Mutations in BAG1 cause autosomal dominant myofibrillar myopathy with early adult onset, characterized by progressive muscle weakness and cardiac involvement. The gene shows very low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to such mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.16
Clinical SummaryBAG1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.16LOEUF
pLI 0.000
Z-score 1.11
OE 0.69 (0.421.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.52Z-score
OE missense 1.11 (0.991.25)
198 obs / 178.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.69 (0.421.16)
00.351.4
Missense OE1.11 (0.991.25)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 10 / 14.6Missense obs/exp: 198 / 178.4Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BAG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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