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NOD1 nucleotide binding oligomerization domain containing 1 [ Homo sapiens (human) ]

Gene ID: 10392, updated on 24-Nov-2020

Summary

Official Symbol
NOD1provided by HGNC
Official Full Name
nucleotide binding oligomerization domain containing 1provided by HGNC
Primary source
HGNC:HGNC:16390
See related
Ensembl:ENSG00000106100 MIM:605980
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CARD4; NLRC1; CLR7.1
Summary
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]
Expression
Ubiquitous expression in lung (RPKM 5.7), spleen (RPKM 4.5) and 24 other tissues See more
Orthologs

Genomic context

See NOD1 in Genome Data Viewer
Location:
7p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (30424527..30478840, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30464143..30518426, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized protein DKFZp586I1420 Neighboring gene long intergenic non-protein coding RNA 1176 Neighboring gene uncharacterized LOC101928268 Neighboring gene gamma-glutamylcyclotransferase Neighboring gene golgin A8 family member A pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
CARD domain binding IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type endopeptidase activator activity involved in apoptotic process TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
pattern recognition receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidoglycan binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
JNK cascade TAS
Traceable Author Statement
more info
 
activation of MAPK activity TAS
Traceable Author Statement
more info
 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to muramyl dipeptide IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response TAS
Traceable Author Statement
more info
PubMed 
defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
defense response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
detection of bacterium IDA
Inferred from Direct Assay
more info
PubMed 
detection of biotic stimulus TAS
Traceable Author Statement
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-8 production IDA
Inferred from Direct Assay
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-binding oligomerization domain containing signaling pathway TAS
Traceable Author Statement
more info
 
pattern recognition receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JNK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity TAS
Traceable Author Statement
more info
 
positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dendritic cell antigen processing and presentation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-1 beta production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric-oxide synthase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tumor necrosis factor production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of xenophagy IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
anchored component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nucleotide-binding oligomerization domain-containing protein 1
Names
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 and CARD domain containing 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013025.1 RefSeqGene

    Range
    4994..59251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354849.2NP_001341778.1  nucleotide-binding oligomerization domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AA845215, AC005154, AC006027
    Conserved Domains (5) summary
    COG5635
    Location:170542
    COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
    cl26161
    Location:676914
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
  2. NM_006092.4NP_006083.1  nucleotide-binding oligomerization domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_006083.1

    Status: REVIEWED

    Source sequence(s)
    AA845215, AC005154, AF113925, BC040339, CV569884
    Consensus CDS
    CCDS5427.1
    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Related
    ENSP00000222823.4, ENST00000222823.9
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain

RNA

  1. NR_149002.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA845215, AC005154, AF113925, AK023969

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    30424527..30478840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515081.2XP_011513383.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513383.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  2. XM_005249572.1XP_005249629.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005249629.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  3. XM_011515079.1XP_011513381.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513381.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  4. XM_011515083.1XP_011513385.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X2

    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676925
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  5. XM_011515085.1XP_011513387.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X5

    Conserved Domains (4) summary
    cd00116
    Location:723858
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730754
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  6. XM_011515084.1XP_011513386.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X4

    Conserved Domains (5) summary
    COG5635
    Location:170542
    COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
    cl26161
    Location:676914
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
  7. XM_005249568.1XP_005249625.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005249625.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  8. XM_006715633.2XP_006715696.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006715696.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  9. XM_011515080.2XP_011513382.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011513382.1

    UniProtKB/Swiss-Prot
    Q9Y239
    UniProtKB/TrEMBL
    A0A024RA73
    Conserved Domains (5) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd00116
    Location:676941
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  10. XM_005249576.1XP_005249633.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X8

    Conserved Domains (3) summary
    cd00116
    Location:428693
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:482509
    LRR_RI; leucine-rich repeat [structural motif]
    cl21455
    Location:3119
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. XM_017011674.1XP_016867163.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X3

  12. XM_011515087.1XP_011513389.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X6

    Conserved Domains (5) summary
    COG5635
    Location:89542
    COG5635; Predicted NTPase, NACHT family domain [Signal transduction mechanisms]
    cd00116
    Location:723821
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197367
    NACHT; NACHT domain
  13. XM_011515088.2XP_011513390.1  nucleotide-binding oligomerization domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011513390.1

    UniProtKB/TrEMBL
    G3XAL1
    Related
    ENSP00000416946.1, ENST00000434755.5
    Conserved Domains (3) summary
    smart00382
    Location:194291
    AAA; ATPases associated with a variety of cellular activities
    cd08324
    Location:21105
    CARD_NOD1_CARD4; Caspase activation and recruitment domain similar to that found in NOD1
    pfam05729
    Location:197367
    NACHT; NACHT domain

RNA

  1. XR_002956406.1 RNA Sequence

  2. XR_926908.2 RNA Sequence

  3. XR_001744529.1 RNA Sequence

  4. XR_926909.2 RNA Sequence

  5. XR_926910.1 RNA Sequence

  6. XR_001744530.1 RNA Sequence

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