PABPC3

Chr 13

poly(A) binding protein cytoplasmic 3

Also known as: PABP3, PABPL3, tPABP

NCBI Gene: 5042 ENSG00000151846 UniProt: Q9H361

PABPC3 encodes a poly(A)-binding protein that binds to the poly(A) tail of mRNA and regulates cytoplasmic mRNA metabolism and translation. The gene is extremely intolerant to loss-of-function variants, indicating it is likely essential for normal cellular function. However, no specific disease phenotypes have been definitively associated with PABPC3 mutations in the current literature.

ResearchSummary from RefSeq, UniProt

Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.67

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.67LOEUF

pLI 0.000

Z-score -0.61

OE 1.16 (0.81–1.67)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.78Z-score

OE missense 1.11 (1.03–1.21)

410 obs / 368.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.16 (0.81–1.67)

0≤0.351.4

Missense OE?1.11 (1.03–1.21)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 20 / 17.3Missense obs/exp: 410 / 368.1Syn Z: 0.69

Background carrier burden — how many people carry a rare variant somewhere in PABPC3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 43

862 rare PASS variants

Rare truncating (LoF)

1 in 310

92 rare PASS variants

Rare synonymous (reference)

1 in 130

239 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PABPC3. 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 67	1 in 270
South Asian	~43k	1 in 33	1 in 430
Remaining (unassigned)	~30k	1 in 36	1 in 190
European (Finnish)	~27k	1 in 140	1 in 5,300
Admixed American	~22k	1 in 40	1 in 600
African / African American	~21k	1 in 45	1 in 510
East Asian	~20k	1 in 63	1 in 540
Ashkenazi Jewish	~13k	1 in 170	1 in 660
Middle Eastern	~2,884	1 in 53	1 in 240

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓