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Gene id

10392

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (30478839: 30424526) Exons: 19 NC_000007.14

Gene summary(Entrez)

This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains 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. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]

OMIM

605980

Protein Summary

Protein general information

Q9Y239

Name: Nucleotide binding oligomerization domain containing protein 1 (Caspase recruitment domain containing protein 4)

Length: 953 Mass: 107,691

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	CARD. (15-105) NACHT. (196-531)
Interpro:	IPR001315 IPR011029 IPR001611 IPR007111
Prosite:	PS50209 PS50837
Pfam:	PF00619 PF13516
PDB:	2B1W 2DBD 2NSN 2NZ7 4E9M 4JQW
PDBsum:	2B1W 2DBD 2NSN 2NZ7 4E9M 4JQW
DIP:	41064
MINT:	90728
STRING:	ENSP00000222823;

Other Databases

GeneCards: NOD1; Malacards: NOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0002606	positive regulation of de ndritic cell antigen proc essing and presentation	ISS	biological_process
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:0005524	ATP binding	IEA	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	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:0005829	cytosol	TAS	cellular_component
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007254	JNK cascade	TAS	biological_process
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0009595	detection of biotic stimu lus	TAS	biological_process
GO:0016045	detection of bacterium	IDA	biological_process
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0032731	positive regulation of in terleukin-1 beta producti on	IEA	biological_process
GO:0032755	positive regulation of in terleukin-6 production	IEA	biological_process
GO:0032760	positive regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0035556	intracellular signal tran sduction	IDA	biological_process
GO:0042228	interleukin-8 biosyntheti c process	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042834	peptidoglycan binding	TAS	molecular_function
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IDA	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0046330	positive regulation of JN K cascade	IEA	biological_process
GO:0050700	CARD domain binding	IDA	molecular_function
GO:0050830	defense response to Gram- positive bacterium	IEA	biological_process
GO:0051000	positive regulation of ni tric-oxide synthase activ ity	IEA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051259	protein oligomerization	TAS	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0070423	nucleotide-binding oligom erization domain containi ng signaling pathway	TAS	biological_process
GO:0071225	cellular response to mura myl dipeptide	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process
GO:1904417	positive regulation of xe nophagy	IEA	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0002606	positive regulation of de ndritic cell antigen proc essing and presentation	IEA	biological_process
GO:0002606	positive regulation of de ndritic cell antigen proc essing and presentation	ISS	biological_process
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:0005524	ATP binding	IEA	molecular_function
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	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:0005829	cytosol	TAS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0006915	apoptotic process	IEA	biological_process
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007254	JNK cascade	TAS	biological_process
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0009595	detection of biotic stimu lus	TAS	biological_process
GO:0010942	positive regulation of ce ll death	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016045	detection of bacterium	IDA	biological_process
GO:0016323	basolateral plasma membra ne	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0032731	positive regulation of in terleukin-1 beta producti on	IEA	biological_process
GO:0032755	positive regulation of in terleukin-6 production	IEA	biological_process
GO:0032760	positive regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0032874	positive regulation of st ress-activated MAPK casca de	IEA	biological_process
GO:0035556	intracellular signal tran sduction	IDA	biological_process
GO:0042228	interleukin-8 biosyntheti c process	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042834	peptidoglycan binding	TAS	molecular_function
GO:0042981	regulation of apoptotic p rocess	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IDA	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0045087	innate immune response	IEA	biological_process
GO:0046330	positive regulation of JN K cascade	IEA	biological_process
GO:0050700	CARD domain binding	IDA	molecular_function
GO:0050830	defense response to Gram- positive bacterium	IEA	biological_process
GO:0051000	positive regulation of ni tric-oxide synthase activ ity	IEA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051259	protein oligomerization	TAS	biological_process
GO:0070374	positive regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0070423	nucleotide-binding oligom erization domain containi ng signaling pathway	TAS	biological_process
GO:0071225	cellular response to mura myl dipeptide	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process
GO:1904417	positive regulation of xe nophagy	IEA	biological_process
GO:0000187	activation of MAPK activi ty	TAS	biological_process
GO:0002606	positive regulation of de ndritic cell antigen proc essing and presentation	ISS	biological_process
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:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	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:0005829	cytosol	TAS	cellular_component
GO:0006915	apoptotic process	TAS	biological_process
GO:0006919	activation of cysteine-ty pe endopeptidase activity involved in apoptotic pr ocess	IDA	biological_process
GO:0006952	defense response	TAS	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007254	JNK cascade	TAS	biological_process
GO:0008656	cysteine-type endopeptida se activator activity inv olved in apoptotic proces s	TAS	molecular_function
GO:0009595	detection of biotic stimu lus	TAS	biological_process
GO:0016045	detection of bacterium	IDA	biological_process
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0035556	intracellular signal tran sduction	IDA	biological_process
GO:0042228	interleukin-8 biosyntheti c process	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042802	identical protein binding	IDA	molecular_function
GO:0042802	identical protein binding	IPI	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042834	peptidoglycan binding	TAS	molecular_function
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IDA	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IDA	biological_process
GO:0050700	CARD domain binding	IDA	molecular_function
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	TAS	biological_process
GO:0051259	protein oligomerization	TAS	biological_process
GO:0070423	nucleotide-binding oligom erization domain containi ng signaling pathway	TAS	biological_process
GO:0071225	cellular response to mura myl dipeptide	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process

KEGG pathways

hsa04621  NOD-like receptor signaling pathway
hsa05133  Pertussis
hsa05120  Epithelial cell signaling in Helicobacter pylori infection
hsa05131  Shigellosis

Diseases

Associated diseases	References
Asthma	PMID: 15718249
Atherosclerosis	PMID: 16893397
Atopic dermatitis	KEGG: H01358
Cholangitis	PMID: 17100974
Crohn's disease	PMID: 16741608
Dermatitis	PMID: 17620097
Endometriosis	PMID: 23935397
Inflammatory bowel disease	PMID: 17012967
Endometriosis	INFBASE23935397
Sarcoidosis	PMID: 16935475

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23935397	Endometrio sis			80 (40 patients with endometri osis, 40 withou t endometriosis )		TLR-2 TLR -9 NOD-1 NOD-2 and NOS	Show abstract