Human Gene NOD1 (ENST00000222823.9) from GENCODE V44
  Description: Homo sapiens nucleotide binding oligomerization domain containing 1 (NOD1), transcript variant 1, mRNA. (from RefSeq NM_006092)
RefSeq Summary (NM_006092): 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].
Gencode Transcript: ENST00000222823.9
Gencode Gene: ENSG00000106100.11
Transcript (Including UTRs)
   Position: hg38 chr7:30,424,527-30,478,784 Size: 54,258 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr7:30,425,638-30,456,921 Size: 31,284 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:30,424,527-30,478,784)mRNA (may differ from genome)Protein (953 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NOD1_HUMAN
DESCRIPTION: RecName: Full=Nucleotide-binding oligomerization domain-containing protein 1; AltName: Full=Caspase recruitment domain-containing protein 4;
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 pathways 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.
SUBUNIT: Homodimer. Self-associates. Binds to caspase-9 and RIPK2 by CARD-CARD interaction. Interacts with ARHGEF2.
INTERACTION: Self; NbExp=2; IntAct=EBI-1051262, EBI-1051262;
SUBCELLULAR LOCATION: Cytoplasm. Basolateral cell membrane. Note=Recruited to the basolateral membrane compartment in polarized epithelial cells.
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.
SIMILARITY: Contains 1 CARD domain.
SIMILARITY: Contains 9 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 NACHT domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: NOD1
Diseases sorted by gene-association score: inflammatory bowel disease (14), inflammatory bowel disease 9 (11), blau syndrome (11), lymphoproliferative syndrome, x-linked, 2 (7), crohn disease-associated growth failure (7), progressive relapsing multiple sclerosis (6), inflammatory bowel disease 3 (6), asthma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.27 RPKM in Spleen
Total median expression: 232.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -187.70530-0.354 Picture PostScript Text
3' UTR -364.301111-0.328 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001315 - CARD
IPR011029 - DEATH-like
IPR007111 - NACHT_NTPase

Pfam Domains:
PF00619 - Caspase recruitment domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2B1W - NMR MuPIT 2DBD - NMR MuPIT 2NSN - X-ray MuPIT 2NZ7 - X-ray MuPIT 4E9M - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y239
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0042834 peptidoglycan binding
GO:0050700 CARD domain binding

Biological Process:
GO:0000187 activation of MAPK activity
GO:0002376 immune system process
GO:0002606 positive regulation of dendritic cell antigen processing and presentation
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0006952 defense response
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007254 JNK cascade
GO:0009595 detection of biotic stimulus
GO:0010942 positive regulation of cell death
GO:0016045 detection of bacterium
GO:0032731 positive regulation of interleukin-1 beta production
GO:0032755 positive regulation of interleukin-6 production
GO:0032760 positive regulation of tumor necrosis factor production
GO:0032874 positive regulation of stress-activated MAPK cascade
GO:0035556 intracellular signal transduction
GO:0042228 interleukin-8 biosynthetic process
GO:0042742 defense response to bacterium
GO:0042981 regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045087 innate immune response
GO:0046330 positive regulation of JNK cascade
GO:0050830 defense response to Gram-positive bacterium
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051259 protein oligomerization
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070423 nucleotide-binding oligomerization domain containing signaling pathway
GO:0070498 interleukin-1-mediated signaling pathway
GO:0071225 cellular response to muramyl dipeptide
GO:1901224 positive regulation of NIK/NF-kappaB signaling
GO:1904417 positive regulation of xenophagy

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AK023969 - Homo sapiens cDNA FLJ13907 fis, clone Y79AA1000033, highly similar to Caspase recruitment domain-containing protein 4.
BC040339 - Homo sapiens nucleotide-binding oligomerization domain containing 1, mRNA (cDNA clone MGC:17074 IMAGE:4338930), complete cds.
BC020114 - Homo sapiens nucleotide-binding oligomerization domain containing 1, mRNA (cDNA clone IMAGE:4214177), with apparent retained intron.
AF113925 - Homo sapiens Nod1 mRNA, complete cds.
JD283396 - Sequence 264420 from Patent EP1572962.
JD112461 - Sequence 93485 from Patent EP1572962.
JD480186 - Sequence 461210 from Patent EP1572962.
JD250864 - Sequence 231888 from Patent EP1572962.
JD454594 - Sequence 435618 from Patent EP1572962.
JD356025 - Sequence 337049 from Patent EP1572962.
JD341797 - Sequence 322821 from Patent EP1572962.
JD208158 - Sequence 189182 from Patent EP1572962.
JD047944 - Sequence 28968 from Patent EP1572962.
JD381790 - Sequence 362814 from Patent EP1572962.
JD069581 - Sequence 50605 from Patent EP1572962.
JD295540 - Sequence 276564 from Patent EP1572962.
AF126484 - Homo sapiens CARD4 mRNA, complete cds.
JD467596 - Sequence 448620 from Patent EP1572962.
JD211337 - Sequence 192361 from Patent EP1572962.
JD211336 - Sequence 192360 from Patent EP1572962.
JD269516 - Sequence 250540 from Patent EP1572962.
JD067105 - Sequence 48129 from Patent EP1572962.
JD186662 - Sequence 167686 from Patent EP1572962.
JD370370 - Sequence 351394 from Patent EP1572962.
JD288529 - Sequence 269553 from Patent EP1572962.
JD273811 - Sequence 254835 from Patent EP1572962.
KJ898200 - Synthetic construct Homo sapiens clone ccsbBroadEn_07594 NOD1 gene, encodes complete protein.
KR709579 - Synthetic construct Homo sapiens clone CCSBHm_00003641 NOD1 (NOD1) mRNA, encodes complete protein.
KU178514 - Homo sapiens nucleotide-binding oligomerization domain containing 1 isoform 1 (NOD1) mRNA, partial cds.
KU178515 - Homo sapiens nucleotide-binding oligomerization domain containing 1 isoform 2 (NOD1) mRNA, complete cds, alternatively spliced.
KU178516 - Homo sapiens nucleotide-binding oligomerization domain containing 1 isoform 3 (NOD1) mRNA, complete cds, alternatively spliced.
KU178517 - Homo sapiens nucleotide-binding oligomerization domain containing 1 isoform 4 (NOD1) mRNA, complete cds, alternatively spliced.
AK300367 - Homo sapiens cDNA FLJ60889 complete cds, highly similar to Caspase recruitment domain-containing protein 4.
CU691852 - Synthetic construct Homo sapiens gateway clone IMAGE:100017856 5' read NOD1 mRNA.
AY187249 - Homo sapiens CARD4 isoform 1 (CARD4) mRNA, partial sequence; alternatively spliced.
AY187250 - Homo sapiens CARD4 isoform 2 (CARD4) mRNA, partial sequence; alternatively spliced.
AY128682 - Homo sapiens CARD4 isoform mRNA, partial cds, alternatively spliced.
AY128683 - Homo sapiens CARD4 isoform mRNA, partial cds, alternatively spliced.
AY128684 - Homo sapiens CARD4 isoform mRNA, partial cds, alternatively spliced.
AY128685 - Homo sapiens CARD4 isoform mRNA, partial cds, alternatively spliced.
AY128686 - Homo sapiens CARD4 isoform mRNA, partial cds, alternatively spliced.
JD266330 - Sequence 247354 from Patent EP1572962.
JD093287 - Sequence 74311 from Patent EP1572962.
JD168049 - Sequence 149073 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04621 - NOD-like receptor signaling pathway
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection
hsa05131 - Shigellosis

Reactome (by CSHL, EBI, and GO)

Protein Q9Y239 (Reactome details) participates in the following event(s):

R-HSA-168400 iE-DAP elicits a NOD1 response
R-HSA-622310 Activated NOD1 oligomerizes
R-HSA-622420 NOD1 induced apoptosis is mediated by RIP2 and CARD8
R-HSA-168405 Activated NOD oligomer recruites RIP2 (RICK)
R-HSA-622415 RIP2 binds NEMO
R-HSA-741395 CARD9 binds RIP2 (and NOD2)
R-HSA-688137 RIP2 is K63 polyubiquitinated
R-HSA-741386 RIP2 induces K63-linked ubiquitination of NEMO
R-HSA-688136 TNFAIP3 (A20) deubiquitinates RIP2
R-HSA-741411 CYLD deubiquitinates NEMO
R-HSA-688985 K63 polyubiquitinated RIP2 associates with the TAK1 complex
R-HSA-168184 Activated TAK1 mediates phosphorylation of the IKK Complex
R-HSA-450337 Activated TAK1 phosphorylates MKK4/MKK7
R-HSA-450346 activated human TAK1 phosphorylates MKK3/MKK6
R-HSA-168638 NOD1/2 Signaling Pathway
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-5689896 Ovarian tumor domain proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins
R-HSA-445989 TAK1 activates NFkB by phosphorylation and activation of IKKs complex
R-HSA-9020702 Interleukin-1 signaling
R-HSA-450321 JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
R-HSA-450302 activated TAK1 mediates p38 MAPK activation
R-HSA-166058 MyD88:Mal cascade initiated on plasma membrane
R-HSA-168164 Toll Like Receptor 3 (TLR3) Cascade
R-HSA-937061 TRIF(TICAM1)-mediated TLR4 signaling
R-HSA-975138 TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
R-HSA-975871 MyD88 cascade initiated on plasma membrane
R-HSA-446652 Interleukin-1 family signaling
R-HSA-450294 MAP kinase activation
R-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-168188 Toll Like Receptor TLR6:TLR2 Cascade
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-166166 MyD88-independent TLR4 cascade
R-HSA-975155 MyD88 dependent cascade initiated on endosome
R-HSA-168142 Toll Like Receptor 10 (TLR10) Cascade
R-HSA-168176 Toll Like Receptor 5 (TLR5) Cascade
R-HSA-449147 Signaling by Interleukins
R-HSA-448424 Interleukin-17 signaling
R-HSA-181438 Toll Like Receptor 2 (TLR2) Cascade
R-HSA-168138 Toll Like Receptor 9 (TLR9) Cascade
R-HSA-168181 Toll Like Receptor 7/8 (TLR7/8) Cascade
R-HSA-1280215 Cytokine Signaling in Immune system

-  Other Names for This Gene
  Alternate Gene Symbols: CARD4, ENST00000222823.1, ENST00000222823.2, ENST00000222823.3, ENST00000222823.4, ENST00000222823.5, ENST00000222823.6, ENST00000222823.7, ENST00000222823.8, NM_006092, NOD1_HUMAN, Q549U4, Q8IWF5, Q9Y239, uc003tav.1, uc003tav.2, uc003tav.3, uc003tav.4, uc003tav.5
UCSC ID: ENST00000222823.9
RefSeq Accession: NM_006092
Protein: Q9Y239 (aka NOD1_HUMAN)
CCDS: CCDS5427.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.