PMF1

Chr 1

polyamine modulated factor 1

NCBI Gene: 11243 ENSG00000160783 UniProt: Q6P1K2 OMIM: 609176

Enables leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in kinetochore and nucleoplasm. Part of MIS12/MIND type complex. Implicated in bladder carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PMF1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

364 rare PASS variants

Rare truncating (LoF)

1 in 2,000

76 rare PASS variants

Rare synonymous (reference)

1 in 270

110 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PMF1. 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 150	1 in 2,700
South Asian	~43k	1 in 93	1 in 1,200
Remaining (unassigned)	~30k	1 in 96	1 in 730
European (Finnish)	~27k	1 in 250	none seen
Admixed American	~22k	1 in 110	1 in 670
African / African American	~21k	1 in 110	1 in 1,400
East Asian	~20k	1 in 140	1 in 760
Ashkenazi Jewish	~13k	1 in 2,600	none seen
Middle Eastern	~2,884	1 in 120	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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓