PCLAF
protein-codingPCNA clamp associated factor
Gene summary
Enables chromatin binding activity and molecular adaptor activity. Involved in several processes, including centrosome cycle; response to UV; and translesion synthesis. Located in centrosome; nucleus; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
- KIAA0101
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PCLAF variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014736.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 19 | 0 | 0 | 19 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055551.1 | 4 | MANE Select | |
| Ensembl | ENSP00000300035.4 | 4 | MANE Select | |
| RefSeq | NP_001025160.1 | 3 | Standard | |
| Ensembl | ENSP00000369608.2 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- DNA Repair
- Termination of translesion DNA synthesis
- Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
- DNA Damage Bypass
Biological Process
- DNA replication
- cellular response to DNA damage stimulus
- centrosome cycle
- response to UV
- translesion synthesis
Molecular Function
- chromatin binding
- protein binding
Cellular Component
- nucleus
- nucleoplasm
- centrosome
- perinuclear region of cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000300035
- Coding exons
- 4
- Length
- 22694
- Individuals with no LoFs
- 125742
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 5
- Defined
- 125747
- p
- 0.0000199
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.455 | 49 | 58.8 | 0.833 | 0.00000287 | 703 |
| Missense (PolyPhen) | 10 | 18.945 | 0.52786 | 217 | ||
| Synonymous | 1.32 | 14 | 21.8 | 0.642 | 0.00000111 | 223 |
| Loss of Function | 1.56 | 2 | 6.18 | 0.324 | 2.62e-7 | 79 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000027 | 0.000026 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number. {ECO:0000269|PubMed:21673012, ECO:0000269|PubMed:23000965}.;
Recessive Scores
- pRec
- 0.490
Intolerance Scores
- RVIS EVS
- -0.1
- RVIS percentile EVS
- 46.2
Essentials
- Essential (gene trap)
- N