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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NPAT
nuclear protein, coactivator of histone transcription
Chromosome 11 · 11q22.3
NCBI Gene: 4863Ensembl: ENSG00000149308.19HGNC: HGNC:7896UniProt: Q14207
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Cajal bodytranscription coactivator activitytranscription corepressor activityprotein bindingfamilial colorectal cancer type Xneurodegenerative diseaseAtaxia-telangiectasiaataxia telangiectasia
✦AI Summary

NPAT (nuclear protein, coactivator of histone transcription) is a critical transcription regulator essential for cell cycle progression through G1 and S phases 1. The protein serves as a key coactivator of histone gene transcription, working in conjunction with other factors to activate expression of histones H2A, H2B, H3, and H4 genes 1. NPAT functions through CDK2-dependent phosphorylation and localizes to specialized nuclear structures called histone locus bodies (HLBs), where it forms complexes with FLASH and YARP proteins to control histone gene expression during cell cycle progression 12. In human embryonic stem cells, NPAT works with cyclin D2 to maintain self-renewal capacity through regulation of histone biosynthesis 3. Disease relevance includes its role in cancer predisposition, with germline loss-of-function variants identified in hereditary colorectal cancer families, suggesting NPAT functions as a tumor suppressor 4. Additionally, the XPO7-NPAT pathway represents a critical vulnerability in TP53-mutated acute myeloid leukemia, where NPAT retention in the nucleus drives leukemia proliferation 5. NPAT has also been identified as a potential DNA methylation biomarker associated with myopia risk 6. The gene is located on chromosome 11 upstream of ATM and spans at least 44 kb with 18 exons 7.

Sources cited
1
NPAT is essential for G1/S phase progression and functions through CDK2 phosphorylation in histone gene regulation
PMID: 17520687
2
NPAT forms complexes with FLASH and YARP proteins in histone locus bodies to control histone gene expression
PMID: 32722282
3
NPAT works with cyclin D2 to maintain self-renewal in human embryonic stem cells
PMID: 19890848
4
Germline NPAT loss-of-function variants predispose to hereditary colorectal cancer
PMID: 38778081
5
XPO7-NPAT pathway is critical for TP53-mutated acute myeloid leukemia survival
PMID: 41160778
6
NPAT identified as DNA methylation biomarker associated with myopia
PMID: 39538342
7
NPAT gene structure and chromosomal location on chromosome 11
PMID: 9205109
Disease Associationsⓘ20
familial colorectal cancer type XOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
Ataxia-telangiectasiaOpen Targets
0.34Weak
ataxia telangiectasiaOpen Targets
0.33Weak
myopiaOpen Targets
0.30Weak
Uterine leiomyomaOpen Targets
0.29Weak
portal hypertensionOpen Targets
0.29Weak
benign colon neoplasmOpen Targets
0.24Weak
Abnormality of refractionOpen Targets
0.20Weak
cancerOpen Targets
0.19Weak
refractive errorOpen Targets
0.18Weak
response to metforminOpen Targets
0.16Weak
clonal hematopoiesisOpen Targets
0.14Weak
Progressive visual lossOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
uterine fibroidOpen Targets
0.08Suggestive
uterine benign neoplasmOpen Targets
0.06Suggestive
benign neoplasm of skinOpen Targets
0.05Suggestive
Epidermal Inclusion CystOpen Targets
0.04Suggestive
essential thrombocythemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LSM10Protein interaction97%TRRAPProtein interaction92%LSM11Protein interaction92%HINFPProtein interaction90%ACAT1Protein interaction82%CASP8AP2Protein interaction82%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
78%
Ovary
73%
Heart
72%
Lung
65%
Liver
44%
Gene Interaction Network
Click a node to explore
NPATLSM10TRRAPLSM11HINFPACAT1CASP8AP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q14207
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.36 [0.27–0.47]
RankingsWhere NPAT stands among ~20K protein-coding genes
  • #7,297of 20,598
    Most Researched64
  • #2,743of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedNPAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Cell cycle dependent phosphorylation and subnuclear organization of the histone gene regulator p220(NPAT) in human embryonic stem cells.
PMID: 17520687
J Cell Physiol · 2007
0.90
3
DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
PMID: 39538342
Clin Epigenetics · 2024
0.80
4
The structure and organization of the human NPAT gene.
PMID: 9205109
Genomics · 1997
0.70
5
Cyclin D2 and the CDK substrate p220(NPAT) are required for self-renewal of human embryonic stem cells.
PMID: 19890848
J Cell Physiol · 2010
0.60