UBTFL1

Chr 11

upstream binding transcription factor like 1

Also known as: C11orf27, HMGPI

NCBI Gene: 642623 ENSG00000255009 UniProt: P0CB47

The UBTFL1 protein is essential for RNA polymerase I transcription initiation and is critical for early embryonic development, particularly proliferation of inner cell mass and trophoblast cells during peri-implantation stages. Mutations in this gene cause autosomal recessive developmental delay with microcephaly and structural brain abnormalities, typically presenting in early infancy. This condition primarily affects the central nervous system with severe neurodevelopmental consequences.

ResearchSummary from RefSeq, UniProt

Predicted to enable RNA polymerase I core promoter sequence-specific DNA binding activity and RNA polymerase I general transcription initiation factor activity. Predicted to be involved in positive regulation of transcription by RNA polymerase I and transcription by RNA polymerase I. Predicted to act upstream of or within blastocyst growth; embryo implantation; and regulation of gene expression. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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 UBTFL1?

gnomAD v4 · ~714k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

188 rare PASS variants

Rare truncating (LoF)

1 in 2,300

22 rare PASS variants

Rare synonymous (reference)

1 in 250

66 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UBTFL1. 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)	~548k	1 in 180	1 in 2,100
South Asian	~42k	1 in 150	none seen
Remaining (unassigned)	~30k	1 in 170	1 in 670
European (Finnish)	~25k	1 in 720	1 in 1,300
African / African American	~20k	1 in 140	1 in 530
Admixed American	~19k	1 in 110	1 in 3,500
East Asian	~19k	1 in 260	1 in 1,500
Ashkenazi Jewish	~13k	1 in 680	1 in 1,400
Middle Eastern	~2,816	1 in 350	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): 0 of 1 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 0 of 1 (exon 1 below).? see exons ↓