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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHAF1B
chromatin assembly factor 1 subunit B
Chromosome 21 · 21q22.12-q22.13
NCBI Gene: 8208Ensembl: ENSG00000159259.9HGNC: HGNC:1911UniProt: Q13112
125PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcytosolprotein bindingDNA replication-dependent chromatin assemblyIntellectual disabilityGlobal developmental delayattention deficit hyperactivity disorderliver disease
✦AI Summary

CHAF1B (chr21 assembly factor 1 subunit B) functions as a critical component of the CAF-1 histone chaperone complex, which assembles histone octamers onto DNA during replication and repair processes 1. The protein contains multiple functional domains including 7× WD repeat domain, B-like domain, and PEST domain, though their precise coordination remains unclear 1. CHAF1B is located within the Down syndrome critical region on chromosome 21 1. The protein plays a significant role in cancer pathogenesis through transcriptional regulation. In acute myeloid leukemia, upregulated CHAF1B promotes leukemic progression by repressing differentiation factors and tumor suppressors, specifically binding to the TRIM13 promoter to inhibit its transcription 2. Similarly, CHAF1B overexpression in lung squamous-cell carcinoma promotes tumor progression by repressing SETD7 expression 3. The protein also maintains glioma stem cell stemness by upregulating IL-33 secretion and promoting microglial M2 polarization through PI3K/AKT signaling 4. Clinical studies demonstrate that high CHAF1B expression correlates with poor prognosis in multiple cancer types, including hepatocellular carcinoma 5 and non-small cell lung cancer 6. Additionally, CHAF1B has been identified as a disease gene in neurogenetic disorders 7 and is commonly amplified in high-risk acute lymphoblastic leukemia 8.

Sources cited
1
CHAF1B functions as a component of CAF-1 complex for histone assembly and contains multiple functional domains
PMID: 26066981
2
CHAF1B promotes AML progression by repressing TRIM13 transcription
PMID: 37205848
3
CHAF1B promotes lung squamous-cell carcinoma by inhibiting SETD7 expression
PMID: 39862337
4
CHAF1B maintains glioma stem cell stemness through IL-33/PI3K/AKT signaling
PMID: 41102004
5
High CHAF1B expression correlates with poor prognosis in hepatocellular carcinoma
PMID: 33575221
6
High CHAF1B expression predicts poor prognosis in non-small cell lung cancer
PMID: 30720130
7
CHAF1B identified as a disease gene in neurogenetic disorders
PMID: 25558065
8
CHAF1B is commonly amplified in high-risk acute lymphoblastic leukemia
PMID: 37216686
Disease Associationsⓘ20
Intellectual disabilityOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
liver diseaseOpen Targets
0.17Weak
VitiligoOpen Targets
0.16Weak
prostate cancerOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.07Suggestive
nephrolithiasisOpen Targets
0.07Suggestive
urolithiasisOpen Targets
0.06Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.05Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val)Likely pathogenic
Global developmental delay;Attention deficit hyperactivity disorder;Intellectual disability
☆☆☆☆2014→ Residue 166
View on ClinVar ↗
Related Genes
H3-5Protein interaction100%H3-4Protein interaction100%H3-3BProtein interaction100%H3C12Protein interaction100%H3C13Protein interaction100%MCM4Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
72%
Ovary
23%
Lung
19%
Liver
9%
Heart
5%
Gene Interaction Network
Click a node to explore
CHAF1BH3-5H3-4H3-3BH3C12H3C13MCM4
PROTEIN STRUCTURE
Preparing viewer…
PDB7Y5L · 3.42 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.27Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.27]
RankingsWhere CHAF1B stands among ~20K protein-coding genes
  • #3,757of 20,598
    Most Researched125 · top quartile
  • #4,819of 5,498
    Most Pathogenic Variants1
  • #910of 17,882
    Most Constrained (LOEUF)0.27 · top 10%
Genes detectedCHAF1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep · 2015
1.00
2
Repression of TRIM13 by chromatin assembly factor CHAF1B is critical for AML development.
PMID: 37205848
Blood Adv · 2023
0.90
3
The Autophagy Related Gene CHAF1B Is a Relevant Prognostic and Diagnostic Biomarker in Hepatocellular Carcinoma.
PMID: 33575221
Front Oncol · 2020
0.80
4
The role of the chromatin assembly complex (CAF-1) and its p60 subunit (CHAF1b) in homeostasis and disease.
PMID: 26066981
Biochim Biophys Acta · 2015
0.70
5
CHAF1B promotes the progression of lung squamous-cell carcinoma by inhibiting SETD7 expression.
PMID: 39862337
Front Med · 2025
0.60