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CHAF1A

Chr 19p13.3

chromatin assembly factor 1 subunit A

Aliases:
CAF1P150, CAF1B, CAF-1, CAF1, P150
MANE:
ENST00000301280.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Paediatric disorders - additional genes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • craniofacial microsomia

    0.45
  • neurodegenerative disease

    0.44
  • Abnormality of the skeletal system

    0.19
  • neoplasm

    0.10
  • gastric cancer

    0.10
  • hepatocellular carcinoma

    0.09
  • non-small cell lung carcinoma

    0.08
  • placenta praevia

    0.08
  • cancer

    0.08
  • neuroblastoma

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Chromatin assembly factor 1 subunit A

Acts as a component of the histone chaperone complex chromatin assembly factor 1 (CAF-1), which assembles histone octamers onto DNA during replication and repair. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly synthesized cbx proteins to heterochromatic DNA replication foci

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.