We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
p14.3
Chromosome location (bp)
30424527 - 30478784
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and thus participates in both innate and adaptive immune responses 1,2,3,4,5,6,7,8. Specifically recognizes and binds gamma-D-glutamyl-meso-diaminopimelic acid (iE-DAP), a dipeptide present in peptidoglycan of Gram-negative bacteria 9,10,11,12,13. Preferentially binds iE-DAP in tripeptide-containing muropeptides (MurNAc-TriDAP or TriDAP) 14. Ligand binding triggers oligomerization that facilitates the binding and subsequent activation of the proximal adapter receptor-interacting RIPK2 15,16,17. Following recruitment, RIPK2 undergoes 'Met-1'- (linear) and 'Lys-63'-linked polyubiquitination by E3 ubiquitin-protein ligases XIAP, BIRC2, BIRC3 and the LUBAC complex, becoming a scaffolding protein for downstream effectors, triggering activation of the NF-kappa-B and MAP kinases signaling 18,19,20. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response 21,22. Also acts as a regulator of antiviral response elicited by dsRNA and the expression of RLR pathway members by targeting IFIH1 and TRAF3 to modulate the formation of IFIH1-MAVS and TRAF3-MAVS complexes leading to increased transcription of type I IFNs 23. Also acts as a regulator of autophagy via its interaction with ATG16L1, possibly by recruiting ATG16L1 at the site of bacterial entry (By similarity). Besides recognizing pathogens, also involved in the endoplasmic reticulum stress response: acts by sensing and binding to the cytosolic metabolite sphingosine-1-phosphate generated in response to endoplasmic reticulum stress, initiating an inflammation process that leads to activation of the NF-kappa-B and MAP kinases signaling 24,25. In addition, plays a role in insulin trafficking in beta cells in a cell-autonomous manner (By similarity). Mechanistically, upon recognizing cognate ligands, NOD1 and RIPK2 localize to insulin vesicles where they recruit RAB1A to direct insulin trafficking through the cytoplasm (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Immunity, Innate immunity
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002221[pattern recognition receptor signaling pathway] GO:0002376[immune system process] GO:0002606[positive regulation of dendritic cell antigen processing and presentation] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] 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:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007254[JNK cascade] GO:0008656[cysteine-type endopeptidase activator activity involved in apoptotic process] GO:0009595[detection of biotic stimulus] GO:0010942[positive regulation of cell death] GO:0016020[membrane] GO:0016045[detection of bacterium] GO:0016323[basolateral plasma membrane] GO:0016324[apical plasma membrane] GO:0031347[regulation of defense response] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032755[positive regulation of interleukin-6 production] GO:0032757[positive regulation of interleukin-8 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:0038187[pattern recognition receptor activity] GO:0042742[defense response to bacterium] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042834[peptidoglycan binding] 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:0044877[protein-containing complex binding] GO:0045087[innate immune response] GO:0045335[phagocytic vesicle] GO:0046330[positive regulation of JNK cascade] GO:0050700[CARD domain binding] 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:0051403[stress-activated MAPK cascade] GO:0060907[positive regulation of macrophage cytokine production] GO:0070371[ERK1 and ERK2 cascade] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071225[cellular response to muramyl dipeptide] GO:0098792[xenophagy] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1904417[positive regulation of xenophagy]
A0A1B0GX71 [Direct mapping] Nucleotide-binding oligomerization domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases
A0A1B0GX71 [Direct mapping] Nucleotide-binding oligomerization domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases
C9J8X8 [Direct mapping] Nucleotide-binding oligomerization domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases
A0A1B0GX71 [Direct mapping] Nucleotide-binding oligomerization domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases
The Human Protein Atlas project is funded
