NOD1

Chr 7

nucleotide binding oligomerization domain containing 1

Also known as: CARD4, CLR7.1, NLRC1, hNod1

NCBI Gene: 10392ENSG00000106100UniProt: Q9Y239

This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]

195
ClinVar variants
25
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— NOD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 147 VUS of 195 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.17LOEUF
pLI 0.000
Z-score 0.77
OE 0.86 (0.64–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.12Z-score
OE missense 0.99 (0.92–1.06)
566 obs / 574.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.86 (0.64–1.17)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.92–1.06)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 30 / 34.9Missense obs/exp: 566 / 574.0Syn Z: -0.20

ClinVar Variant Classifications

195 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic4
VUS147
Likely Benign17
Benign6
21
Pathogenic
4
Likely Pathogenic
147
VUS
17
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
21
0
21
Likely Pathogenic
0
0
4
0
4
VUS
0
139
8
0
147
Likely Benign
0
14
1
2
17
Benign
0
3
0
3
6
Total0156345195

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NOD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Fusobacterium nucleatum-triggered neutrophil extracellular traps facilitate colorectal carcinoma progression.
Kong X et al.·J Exp Clin Cancer Res
2023
Lactobacillus intestinalis facilitates tumor-derived CCL5 to recruit dendritic cell and suppress colorectal tumorigenesis.
Sun Y et al.·Gut Microbes
2025
The immune system in cardiovascular diseases: from basic mechanisms to therapeutic implications.
Wang X et al.·Signal Transduct Target Ther
2025Review
RIPK2 NODs to XIAP and IBD.
Topal Y et al.·Semin Cell Dev Biol
2021Review
SLC15A4 mediates M1-prone metabolic shifts in macrophages and guards immune cells from metabolic stress.
Kobayashi T et al.·Proc Natl Acad Sci U S A
2021
Synergistic interactions between NOD receptors and TLRs: Mechanisms and clinical implications.
Pashenkov MV et al.·J Leukoc Biol
2019Review
NOD1 and NOD2 Are Potential Therapeutic Targets for Cancer Immunotherapy.
Wang D·Comput Intell Neurosci
2022Review
Topical administration of coumarin derivatives alleviates skin inflammatory symptoms in atopic dermatitis model.
Han G et al.·Biomed Pharmacother
2025Functional
NOD1 in the interplay between microbiota and gastrointestinal immune adaptations.
Fernández-García V et al.·Pharmacol Res
2021Review
The Interplay between Immune System and Microbiota in Osteoporosis.
Locantore P et al.·Mediators Inflamm
2020Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools