GABPB1

Chr 15

GA binding protein transcription factor subunit beta 1

Also known as: BABPB2, E4TF1, E4TF1-47, E4TF1-53, E4TF1B, GABPB, GABPB-1, GABPB2

NCBI Gene: 2553 ENSG00000104064 UniProt: Q06547

This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GABPB1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 520

314 rare PASS variants

Rare truncating (LoF)

1 in 8,400

33 rare PASS variants

Rare synonymous (reference)

1 in 370

165 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GABPB1. 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 560	1 in 22,000
South Asian	~43k	1 in 350	1 in 3,000
Remaining (unassigned)	~30k	1 in 430	1 in 5,200
European (Finnish)	~27k	1 in 980	1 in 2,200
Admixed American	~22k	1 in 320	1 in 1,400
African / African American	~21k	1 in 280	1 in 3,100
East Asian	~20k	1 in 310	1 in 3,100
Ashkenazi Jewish	~13k	1 in 490	none seen
Middle Eastern	~2,884	1 in 570	≈ 1 in 2,800

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): 5 of 8 coding exons well covered in gnomAD exomes; exons 2, 6, 8 marginal. Genomes: all 8.? see exons ↓