PRC1

Chr 15

protein regulator of cytokinesis 1

Also known as: ASE1, MAP65

NCBI Gene: 9055 ENSG00000198901 UniProt: O43663 OMIM: 603484

This gene encodes a key regulator of cytokinesis that cross-links antiparallel microtubules and is essential for controlling midzone formation and successful cell division. Biallelic mutations cause microcephaly with chorioretinopathy, which involves neurodevelopmental abnormalities and eye malformations with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.621), reflecting its essential role in cell division.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

OMIM ResearchGenerating clinical summary…

Active trials

200

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PRC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 92

838 rare PASS variants

Rare truncating (LoF)

1 in 1,000

145 rare PASS variants

Rare synonymous (reference)

1 in 200

296 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PRC1. 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 98	1 in 1,000
South Asian	~43k	1 in 51	1 in 660
Remaining (unassigned)	~30k	1 in 69	1 in 1,700
European (Finnish)	~27k	1 in 350	1 in 1,400
Admixed American	~22k	1 in 70	1 in 1,100
African / African American	~21k	1 in 64	1 in 1,500
East Asian	~20k	1 in 57	1 in 1,100
Ashkenazi Jewish	~13k	1 in 560	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 96	≈ 1 in 940

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 15 coding exons well covered in gnomAD exomes and genomes.? see exons ↓