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 infectio... See more...

Aliases for NOD1 Gene

Aliases for NOD1 Gene

  • Nucleotide Binding Oligomerization Domain Containing 1 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 1 2 3
  • Nucleotide-Binding Oligomerization Domain-Containing Protein 1 3 4
  • Caspase Recruitment Domain-Containing Protein 4 3 4
  • Caspase Recruitment Domain Family, Member 4 2 3
  • NLR Family, CARD Domain Containing 1 2 3
  • CARD4 3 4
  • CLR7.1 3
  • NLRC1 3

External Ids for NOD1 Gene

Previous HGNC Symbols for NOD1 Gene

  • CARD4

Previous GeneCards Identifiers for NOD1 Gene

  • GC07M030431
  • GC07M030346
  • GC07M030464

Summaries for NOD1 Gene

Entrez Gene Summary for NOD1 Gene

  • 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]

GeneCards Summary for NOD1 Gene

NOD1 (Nucleotide Binding Oligomerization Domain Containing 1) is a Protein Coding gene. Diseases associated with NOD1 include Helicobacter Pylori Infection and Blau Syndrome. Among its related pathways are Activated TLR4 signalling and NOD-like receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NOD2.

UniProtKB/Swiss-Prot Summary for NOD1 Gene

  • Enhances caspase-9-mediated apoptosis. Induces NF-kappa-B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Recruits NLRP10 to the cell membrane following bacterial infection.

Gene Wiki entry for NOD1 Gene

Additional gene information for NOD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOD1 Gene

Genomics for NOD1 Gene

GeneHancer (GH) Regulatory Elements for NOD1 Gene

Promoters and enhancers for NOD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NOD1 gene promoter:
  • C/EBPalpha
  • C/EBPbeta
  • FOXL1
  • FOXO1
  • FOXO1a
  • p53
  • POU2F1a
  • RORalpha1
  • XBP-1

Genomic Locations for NOD1 Gene

Genomic Locations for NOD1 Gene
chr7:30,424,527-30,478,797
(GRCh38/hg38)
Size:
54,271 bases
Orientation:
Minus strand
chr7:30,464,143-30,518,400
(GRCh37/hg19)
Size:
54,258 bases
Orientation:
Minus strand

Genomic View for NOD1 Gene

Genes around NOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOD1 Gene

Proteins for NOD1 Gene

  • Protein details for NOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y239-NOD1_HUMAN
    Recommended name:
    Nucleotide-binding oligomerization domain-containing protein 1
    Protein Accession:
    Q9Y239
    Secondary Accessions:
    • B4DTU3
    • Q549U4
    • Q8IWF5

    Protein attributes for NOD1 Gene

    Size:
    953 amino acids
    Molecular mass:
    107691 Da
    Quaternary structure:
    • Homodimer. Self-associates. Binds to caspase-9 and RIPK2 by CARD-CARD interaction. Interacts with ARHGEF2. Interacts with NLRP10 and recruits it to the cell membrane following invasive bacterial infection. Interacts with RNF34.

    Three dimensional structures from OCA and Proteopedia for NOD1 Gene

    Alternative splice isoforms for NOD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOD1 Gene

Post-translational modifications for NOD1 Gene

  • Ubiquitinated. 'Lys-48'-linked polyubiquitination by RNF34 promotes proteasomal degradation and thereby negatively regulates NOD1 for instance in NF-kappa-B activition.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NOD1
  • Boster Bio Antibodies for NOD1

No data available for DME Specific Peptides for NOD1 Gene

Domains & Families for NOD1 Gene

Gene Families for NOD1 Gene

Suggested Antigen Peptide Sequences for NOD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60889, highly similar to Caspase recruitment domain-containing protein 4 (B4DTU3_HUMAN)
  • Caspase recruitment domain-containing protein 4 (NOD1_HUMAN)
genes like me logo Genes that share domains with NOD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NOD1 Gene

Function for NOD1 Gene

Molecular function for NOD1 Gene

UniProtKB/Swiss-Prot Function:
Enhances caspase-9-mediated apoptosis. Induces NF-kappa-B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Recruits NLRP10 to the cell membrane following bacterial infection.

Phenotypes From GWAS Catalog for NOD1 Gene

Gene Ontology (GO) - Molecular Function for NOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15107016
GO:0005524 ATP binding IEA --
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process TAS 10329646
GO:0042802 identical protein binding IPI,IDA 18186648
GO:0042803 protein homodimerization activity IPI 18186648
genes like me logo Genes that share ontologies with NOD1: view
genes like me logo Genes that share phenotypes with NOD1: view

Animal Models for NOD1 Gene

MGI Knock Outs for NOD1:

Animal Model Products

CRISPR Products

miRNA for NOD1 Gene

miRTarBase miRNAs that target NOD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NOD1 Gene

Localization for NOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOD1 Gene

Cytoplasm. Cell membrane. Apical cell membrane. Basolateral cell membrane. Note=Detected in the cytoplasm and at the cell membrane. Following bacterial infection, localizes to bacterial entry sites in the cell membrane. Recruited to the basolateral and apical membranes in polarized epithelial cells.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOD1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 15967716
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016323 basolateral plasma membrane IDA,IEA 19043560
genes like me logo Genes that share ontologies with NOD1: view

Pathways & Interactions for NOD1 Gene

genes like me logo Genes that share pathways with NOD1: view

SIGNOR curated interactions for NOD1 Gene

Activates:

Gene Ontology (GO) - Biological Process for NOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0002376 immune system process IEA --
GO:0002606 positive regulation of dendritic cell antigen processing and presentation ISS --
GO:0006915 apoptotic process IEA,TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 10329646
genes like me logo Genes that share ontologies with NOD1: view

Drugs & Compounds for NOD1 Gene

(4) Drugs for NOD1 Gene - From: ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
meso-DAP Pharma Agonist 0
ML130 (Nodinitib-1) Pharma 0

(2) Additional Compounds for NOD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for NOD1 Gene

Compound Action Cas Number
ML130 (Nodinitib-1) 799264-47-4
genes like me logo Genes that share compounds with NOD1: view

Transcripts for NOD1 Gene

mRNA/cDNA for NOD1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
SP1: - - -
SP2: - - - -
SP3:
SP4: - - - - - -
SP5: -

Relevant External Links for NOD1 Gene

GeneLoc Exon Structure for
NOD1
ECgene alternative splicing isoforms for
NOD1

Expression for NOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOD1 Gene

This gene is overexpressed in Brain (50.6) and Heart (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOD1 Gene



Protein tissue co-expression partners for NOD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NOD1 Gene:

NOD1

SOURCE GeneReport for Unigene cluster for NOD1 Gene:

Hs.405153

mRNA Expression by UniProt/SwissProt for NOD1 Gene:

Q9Y239-NOD1_HUMAN
Tissue specificity: Highly expressed in adult heart, skeletal muscle, pancreas, spleen and ovary. Also detected in placenta, lung, liver, kidney, thymus, testis, small intestine and colon.

Evidence on tissue expression from TISSUES for NOD1 Gene

  • Heart(4.3)
  • Intestine(2.4)
  • Spleen(2.4)
  • Lung(2.1)
  • Blood(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with NOD1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOD1 Gene

Orthologs for NOD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOD1 33 32
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NOD1 33 32
  • 86.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOD1 33 32
  • 86.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nod1 17 33 32
  • 81.97 (n)
rat
(Rattus norvegicus)
Mammalia Nod1 32
  • 81.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NOD1 33
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOD1 33
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOD1 33 32
  • 64.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOD1 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nod1 32
  • 58 (n)
zebrafish
(Danio rerio)
Actinopterygii nod1 33 32
  • 58.37 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6216 32
Species where no ortholog for NOD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOD1 Gene

ENSEMBL:
Gene Tree for NOD1 (if available)
TreeFam:
Gene Tree for NOD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOD1: view image

Paralogs for NOD1 Gene

(2) SIMAP similar genes for NOD1 Gene using alignment to 5 proteins:

  • NOD1_HUMAN
  • B4DTU3_HUMAN
  • C9J8X8_HUMAN
  • G3XAL1_HUMAN
  • Q7Z2K1_HUMAN
genes like me logo Genes that share paralogs with NOD1: view

Variants for NOD1 Gene

Sequence variations from dbSNP and Humsavar for NOD1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs199475893 not-provided, not provided 30,479,406(-) G/A upstream_transcript_variant
rs199475894 not-provided, not provided 30,478,919(-) C/T upstream_transcript_variant
rs199475895 not-provided, not provided 30,478,839(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs199475896 not-provided, not provided 30,459,924(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs199475897 not-provided, not provided 30,455,259(-) A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NOD1 Gene

Variant ID Type Subtype PubMed ID
esv2657686 CNV deletion 23128226
esv2665927 CNV deletion 23128226
esv3612709 CNV loss 21293372
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159
nsv436557 CNV deletion 17901297

Variation tolerance for NOD1 Gene

Residual Variation Intolerance Score: 88.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.52; 94.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOD1 Gene

Human Gene Mutation Database (HGMD)
NOD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOD1 Gene

Disorders for NOD1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NOD1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
helicobacter pylori infection
  • helicobacter pylori infection, susceptibility to
blau syndrome
  • eos
inflammatory bowel disease 9
  • ibd9
inflammatory bowel disease
  • inflammatory bowel diseases
lymphoproliferative syndrome, x-linked, 2
  • xlp2
- elite association - COSMIC cancer census association via MalaCards
Search NOD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NOD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOD1 Gene

Publications for NOD1 Gene

  1. Nod1, an Apaf-1-like activator of caspase-9 and nuclear factor-kappaB. (PMID: 10329646) Inohara N … Núñez G (The Journal of biological chemistry 1999) 2 3 4 23 56
  2. Nucleotide-binding oligomerization domain containing 1 (NOD1) haplotypes and single nucleotide polymorphisms modify susceptibility to inflammatory bowel diseases in a New Zealand caucasian population: a case-control study. (PMID: 19327158) Huebner C … Browning BL (BMC research notes 2009) 3 23 43 56
  3. Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population. (PMID: 19723304) Verma R … Paul J (BMC medical genetics 2009) 3 23 43 56
  4. Monomer/dimer transition of the caspase-recruitment domain of human Nod1. (PMID: 18186648) Srimathi T … Park YC (Biochemistry 2008) 3 4 23 56
  5. Genetic polymorphisms of NOD1 and IL-8, but not polymorphisms of TLR4 genes, are associated with Helicobacter pylori-induced duodenal ulcer and gastritis. (PMID: 17309748) Hofner P … Mándi Y (Helicobacter 2007) 3 23 43 56

Products for NOD1 Gene

Sources for NOD1 Gene