• Gene id: 10392

Gene Summary

• Gene Symbol: NOD1   Gene   UCSC   Ensembl
• Aliases: CARD4, CLR7.1, NLRC1
• Gene name: nucleotide binding oligomerization domain containing 1
• Alternate names: nucleotide-binding oligomerization domain-containing protein 1, NLR family, CARD domain containing 1, caspase recruitment domain family, member 4, caspase recruitment domain-containing protein 4, nucleotide-binding oligomerization domain, leucine rich repeat ,
• Gene location: 7p14.3 (30478865: 30424526)     Exons: 19     NC_000007.14
• Gene summary(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 peptidogly
• OMIM: 605987

Protein Summary

• Protein general information: Q9Y239  
  • Name: Nucleotide binding oligomerization domain containing protein 1 (Caspase recruitment domain containing protein 4)
  • Length: 953  
  • Mass: 107691
  • 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.
• Sequence:

  MEEQGHSEMEIIPSESHPHIQLLKSNRELLVTHIRNTQCLVDNLLKNDYFSAEDAEIVCACPTQPDKVRKILDLV
  QSKGEEVSEFFLYLLQQLADAYVDLRPWLLEIGFSPSLLTQSKVVVNTDPVSRYTQQLRHHLGRDSKFVLCYAQK
  EELLLEEIYMDTIMELVGFSNESLGSLNSLACLLDHTTGILNEQGETIFILGDAGVGKSMLLQRLQSLWATGRLD
  AGVKFFFHFRCRMFSCFKESDRLCLQDLLFKHYCYPERDPEEVFAFLLRFPHVALFTFDGLDELHSDLDLSRVPD
  SSCPWEPAHPLVLLANLLSGKLLKGASKLLTARTGIEVPRQFLRKKVLLRGFSPSHLRAYARRMFPERALQDRLL
  SQLEANPNLCSLCSVPLFCWIIFRCFQHFRAAFEGSPQLPDCTMTLTDVFLLVTEVHLNRMQPSSLVQRNTRSPV
  ETLHAGRDTLCSLGQVAHRGMEKSLFVFTQEEVQASGLQERDMQLGFLRALPELGPGGDQQSYEFFHLTLQAFFT
  AFFLVLDDRVGTQELLRFFQEWMPPAGAATTSCYPPFLPFQCLQGSGPAREDLFKNKDHFQFTNLFLCGLLSKAK
  QKLLRHLVPAAALRRKRKALWAHLFSSLRGYLKSLPRVQVESFNQVQAMPTFIWMLRCIYETQSQKVGQLAARGI
  CANYLKLTYCNACSADCSALSFVLHHFPKRLALDLDNNNLNDYGVRELQPCFSRLTVLRLSVNQITDGGVKVLSE
  ELTKYKIVTYLGLYNNQITDVGARYVTKILDECKGLTHLKLGKNKITSEGGKYLALAVKNSKSISEVGMWGNQVG
  DEGAKAFAEALRNHPSLTTLSLASNGISTEGGKSLARALQQNTSLEILWLTQNELNDEVAESLAEMLKVNQTLKH
  LWLIQNQITAKGTAQLADALQSNTGITEICLNGNLIKPEEAKVYEDEKRIICF

• Structural information:
  • Protein Domains: (15..10-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046-)
    (196..53-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR001315  IPR011029  IPR001611  IPR032675  IPR007111   IPR041267  IPR041075  
  • Prosite: PS50209 PS50837
  • PDB: 2B1W 2DBD 2NSN 2NZ7 4E9M 4JQW
  • PDBsum: 2B1W 2DBD 2NSN 2NZ7 4E9M 4JQW
  • DIP: 41064
  • STRING: ENSP00000222823
• Other Databases: GeneCards:  NOD1  Malacards:  NOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006952	defense response	TAS	biological process
GO:0042228	interleukin-8 biosynthetic process	IDA	biological process
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0016045	detection of bacterium	IDA	biological process
GO:0009595	detection of biotic stimulus	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042834	peptidoglycan binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0002221	pattern recognition receptor signaling pathway	IDA	biological process
GO:0038187	pattern recognition receptor activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0046658	anchored component of plasma membrane	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	TAS	molecular function
GO:0006915	apoptotic process	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0050700	CARD domain binding	IDA	molecular function
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0070423	nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	IEA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0010942	positive regulation of cell death	IEA	biological process
GO:1904417	positive regulation of xenophagy	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0046330	positive regulation of JNK cascade	IEA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IEA	biological process
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0032874	positive regulation of stress-activated MAPK cascade	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0002606	positive regulation of dendritic cell antigen processing and presentation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002606	positive regulation of dendritic cell antigen processing and presentation	ISS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071225	cellular response to muramyl dipeptide	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa04621	NOD-like receptor signaling pathway
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05133	Pertussis

Diseases

Associated diseases	References
Atopic dermatitis	KEGG:H01358
Atopic dermatitis	KEGG:H01358
Asthma	PMID:15718249
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq