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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATRIP
ATR interacting protein
Chromosome 3 Β· 3p21.31
NCBI Gene: 84126Ensembl: ENSG00000164053.23HGNC: HGNC:33499UniProt: Q8WXE1
108PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingK63-linked polyubiquitin modification-dependent protein bindingnucleoplasmDNA repairAicardi-Goutieres syndrome 1retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationschilblain lupus 1systemic lupus erythematosus
✦AI Summary

ATRIP (ATR-interacting protein) is essential for DNA damage checkpoint signaling and maintaining genomic stability in human cells. ATRIP forms a functional complex with ATR kinase, with the complex adopting a distinctive hollow "heart" shape structure where ATRIP's 14 HEAT repeats in an extended "S" configuration help lock two ATR monomers together 1. The protein is critical for ATR stability and activation, as ATRIP deficiency results in low-grade ATR activation but impaired CHK1 phosphorylation under genotoxic stress 2. ATRIP protects progenitor cells against DNA damage accumulation during DNA replication, and its loss leads to replicative stress and TP53-dependent cell death 3. The protein requires interaction with the MCM replication complex for proper chr3 loading and phosphorylation 4. Clinically, homozygous ATRIP deficiency causes severe developmental abnormalities including microcephalic primordial dwarfism, compromised immunity with lymphopenia, poor vaccine responses, and recurrent infections 2. ATRIP-deficient cells show chr3 instability, compromised cell cycle control, and reduced viability, establishing ATRIP deficiency as a monogenic cause of developmental disorders 2. The ATR-ATRIP complex serves as a target for cancer therapeutics, with several inhibitors currently in clinical trials 5.

Sources cited
1
ATR-ATRIP complex structure and therapeutic targeting with inhibitors in clinical trials
PMID: 40379520
2
ATRIP deficiency causes microcephalic primordial dwarfism, immune defects, and impaired DNA damage response
PMID: 40029331
3
ATRIP protects progenitor cells against DNA damage and its loss causes replicative stress and cell death
PMID: 33110058
4
Structural organization of ATR-ATRIP complex with hollow heart shape and ATRIP's 14 HEAT repeats
PMID: 29271416
5
ATRIP interaction with MCM complex is required for chromatin loading and phosphorylation
PMID: 29442041
Disease Associationsβ“˜20
Aicardi-Goutieres syndrome 1Open Targets
0.57Moderate
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsOpen Targets
0.57Moderate
chilblain lupus 1Open Targets
0.57Moderate
systemic lupus erythematosusOpen Targets
0.53Moderate
Seckel syndromeOpen Targets
0.46Moderate
chilblain lupusOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
Aicardi-Goutieres syndromeOpen Targets
0.40Moderate
neurodegenerative diseaseOpen Targets
0.32Weak
cerebral arteriopathy with subcortical infarcts and leukoencephalopathyOpen Targets
0.32Weak
Retinal dystrophyOpen Targets
0.31Weak
vascular dementiaOpen Targets
0.29Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
thrombotic microangiopathyOpen Targets
0.26Weak
Hereditary breast cancerOpen Targets
0.23Weak
breast cancerOpen Targets
0.20Weak
susceptibility to breast cancerOpen Targets
0.18Weak
substance-related disorderOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants2
NM_130384.3(ATRIP):c.829+2T>GPathogenic
Seckel syndrome|Microcephalic Primordial Dwarfism with immunodeficiency
β˜…β˜…β˜†β˜†2024
NM_130384.3(ATRIP):c.829+5G>TLikely pathogenic
Microcephalic Primordial Dwarfism with immunodeficiency
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
ATMProtein interaction100%RBBP8Protein interaction100%ETAA1Protein interaction100%CDK2Protein interaction100%MCM2Protein interaction100%FANCD2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
43%
Ovary
2%
Lung
1%
Liver
1%
Brain
1%
Gene Interaction Network
Click a node to explore
ATRIPATMRBBP8ETAA1CDK2MCM2FANCD2
PROTEIN STRUCTURE
Preparing viewer…
PDB4NB3 Β· 1.35 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.42–0.71]
RankingsWhere ATRIP stands among ~20K protein-coding genes
  • #4,394of 20,598
    Most Researched108 Β· top quartile
  • #4,303of 5,498
    Most Pathogenic Variants2
  • #5,406of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedATRIP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular architecture and inhibition mechanism of human ATR-ATRIP.
PMID: 40379520
Sci Bull (Beijing) Β· 2025
1.00
2
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.
PMID: 40029331
J Exp Med Β· 2025
0.90
3
NUFIP1 integrates amino acid sensing and DNA damage response to maintain the intestinal homeostasis.
PMID: 39753713
Nat Metab Β· 2025
0.80
4
Inflammasome protein scaffolds the DNA damage complex during tumor development.
PMID: 39402152
Nat Immunol Β· 2024
0.70
5
ATRIP protects progenitor cells against DNA damage in vivo.
PMID: 33110058
Cell Death Dis Β· 2020
0.60