This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011] See more...

Aliases for NLRC5 Gene

Aliases for NLRC5 Gene

  • NLR Family CARD Domain Containing 5 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD Domain Containing 5 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 4 3 4
  • Caterpiller Protein 16.1 3 4
  • NOD-Like Receptor C5 2 3
  • Protein NLRC5 3 4
  • CLR16.1 3 4
  • NOD27 3 4
  • NOD4 3 4
  • Nucleotide-Binding Oligomerization Domain Protein 27 4
  • Nucleotide-Binding Oligomerization Domains 27 3

External Ids for NLRC5 Gene

Previous GeneCards Identifiers for NLRC5 Gene

  • GC16P055581
  • GC16P057023
  • GC16P042892

Summaries for NLRC5 Gene

Entrez Gene Summary for NLRC5 Gene

  • This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]

GeneCards Summary for NLRC5 Gene

NLRC5 (NLR Family CARD Domain Containing 5) is a Protein Coding gene. Diseases associated with NLRC5 include Acute Endometritis and Familial Pityriasis Rubra Pilaris. Among its related pathways are Innate Immune System and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Gene Ontology (GO) annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is NLRP1.

UniProtKB/Swiss-Prot Summary for NLRC5 Gene

  • Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms.

Gene Wiki entry for NLRC5 Gene

Additional gene information for NLRC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRC5 Gene

Genomics for NLRC5 Gene

GeneHancer (GH) Regulatory Elements for NLRC5 Gene

Promoters and enhancers for NLRC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J057035 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 521 +50.0 50046 8.5 SP1 EP300 ZNF623 RELA TRIM22 POLR2A BCL11A TCF12 CREB1 CBFB NLRC5 CETP ENSG00000259922 MT1E PSME3IP1 ENSG00000260145 LOC100130044
GH16J056988 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 515.8 +0.5 516 5.2 SIN3A POLR2G USF1 PHF8 ZIC2 POLR2A ZBTB10 ZBTB11 ZNF423 ZBTB26 NLRC5 lnc-FAM192A-4 lnc-CETP-2 NUDT21 ENSG00000259922 lnc-FAM192A-3
GH16J056964 Enhancer 1.2 Ensembl ENCODE 39.9 -23.1 -23084 5.6 RXRA EP300 CTCF NRF1 NCOR1 TEAD4 FOS KDM6A TCF7 ZNF623 RSPRY1 NLRC5 NUDT21 HERPUD1 LOC105371286 MT3 NUP93 PSME3IP1 BBS2 POLR2C
GH16J056949 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 22.6 -38.5 -38484 4.4 FOXK2 EP300 CTCF POLR2G SP1 ZNF10 KDM6A TCF7 ZNF623 FOXA1 CETP NLRC5 ENSG00000261270 HERPUD1 RF00012-016
GH16J056961 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 33.2 -28.3 -28285 4 CEBPB NR2F2 RXRA ZNF366 HNRNPL ZNF512 MNT PRDM1 CETP NLRC5 HERPUD1 RF00012-016
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRC5

Top Transcription factor binding sites by QIAGEN in the NLRC5 gene promoter:
  • ATF6
  • c-Myc
  • HTF
  • Max1
  • Pax-4a
  • STAT1
  • STAT1alpha
  • STAT1beta
  • USF-1
  • USF1

Genomic Locations for NLRC5 Gene

Genomic Locations for NLRC5 Gene
chr16:56,989,485-57,083,531
(GRCh38/hg38)
Size:
94,047 bases
Orientation:
Plus strand
chr16:57,023,397-57,117,443
(GRCh37/hg19)
Size:
94,047 bases
Orientation:
Plus strand

Genomic View for NLRC5 Gene

Genes around NLRC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRC5 Gene

Proteins for NLRC5 Gene

  • Protein details for NLRC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WI3-NLRC5_HUMAN
    Recommended name:
    Protein NLRC5
    Protein Accession:
    Q86WI3
    Secondary Accessions:
    • B5MEF1
    • C9JMD8
    • Q6P4A6
    • Q86VM7
    • Q8NF42
    • Q8TEE2
    • Q8TEJ1
    • Q969L7

    Protein attributes for NLRC5 Gene

    Size:
    1866 amino acids
    Molecular mass:
    204595 Da
    Quaternary structure:
    • Interacts with CHUK and IKBKB; prevents CHUK and IKBKB phosphorylation and inhibits their kinase activity. Interacts with DDX58 and IFIH1; blocks the interaction of MAVS to DDX58.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 6]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=BAB55096.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55098.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB85008.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NLRC5 Gene

neXtProt entry for NLRC5 Gene

Post-translational modifications for NLRC5 Gene

  • Ubiquitination at Lys989, Lys1099, and Lys1349
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NLRC5
  • Santa Cruz Biotechnology (SCBT) Antibodies for NLRC5

No data available for DME Specific Peptides for NLRC5 Gene

Domains & Families for NLRC5 Gene

Gene Families for NLRC5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NLRC5 Gene

Blocks:
  • Disease resistance protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NLRC5 Gene

GenScript: Design optimal peptide antigens:
  • Nucleotide-binding oligomerization domain protein 4 (NLRC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WI3

UniProtKB/Swiss-Prot:

NLRC5_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRC5: view

Function for NLRC5 Gene

Molecular function for NLRC5 Gene

UniProtKB/Swiss-Prot Function:
Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms.
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma.

Phenotypes From GWAS Catalog for NLRC5 Gene

Gene Ontology (GO) - Molecular Function for NLRC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20639463
GO:0005515 protein binding IPI,IEA 20434986
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRC5: view
genes like me logo Genes that share phenotypes with NLRC5: view

Animal Models for NLRC5 Gene

MGI Knock Outs for NLRC5:

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLRC5 Gene

Localization for NLRC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRC5 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRC5 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 4
extracellular 2
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NLRC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 20639463
GO:0005737 cytoplasm IBA,IDA 20061403
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with NLRC5: view

Pathways & Interactions for NLRC5 Gene

genes like me logo Genes that share pathways with NLRC5: view

Gene Ontology (GO) - Biological Process for NLRC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0009617 response to bacterium IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IDA 20434986
GO:0032480 negative regulation of type I interferon production TAS --
GO:0035556 intracellular signal transduction IBA 21873635
genes like me logo Genes that share ontologies with NLRC5: view

No data available for SIGNOR curated interactions for NLRC5 Gene

Drugs & Compounds for NLRC5 Gene

No Compound Related Data Available

Transcripts for NLRC5 Gene

mRNA/cDNA for NLRC5 Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NLRC5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1: -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a ·
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 46b · 46c ^ 47 ^ 48a · 48b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for NLRC5 Gene

GeneLoc Exon Structure for
NLRC5

Expression for NLRC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRC5 Gene

This gene is overexpressed in Whole Blood (x10.1) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for NLRC5 Gene

This gene is overexpressed in Lung (42.1) and Monocytes (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRC5 Gene



Protein tissue co-expression partners for NLRC5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRC5

SOURCE GeneReport for Unigene cluster for NLRC5 Gene:

Hs.528836

mRNA Expression by UniProt/SwissProt for NLRC5 Gene:

Q86WI3-NLRC5_HUMAN
Tissue specificity: Expressed in spleen, thymus, lung, brain, tonsil, heart and prostate.

Evidence on tissue expression from TISSUES for NLRC5 Gene

  • Spleen(4.5)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with NLRC5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRC5 Gene

Orthologs for NLRC5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRC5 30
  • 96.65 (n)
dog
(Canis familiaris)
Mammalia NLRC5 31 30
  • 81.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NLRC5 31 30
  • 81.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrc5 17 31 30
  • 70.59 (n)
oppossum
(Monodelphis domestica)
Mammalia NLRC5 31
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NLRC5 31
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves NLRC5 31 30
  • 52.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NLRC5 31
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730474 30
  • 47.13 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-122c9.5 30
  • 42.74 (n)
NLRC5 31
  • 28 (a)
OneToOne
Species where no ortholog for NLRC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NLRC5 Gene

ENSEMBL:
Gene Tree for NLRC5 (if available)
TreeFam:
Gene Tree for NLRC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRC5: view image

Paralogs for NLRC5 Gene

(58) SIMAP similar genes for NLRC5 Gene using alignment to 12 proteins:

  • NLRC5_HUMAN
  • F5GYP0_HUMAN
  • F5H274_HUMAN
  • H0YF88_HUMAN
  • H0YFG4_HUMAN
  • H0YFT1_HUMAN
  • H0YFT3_HUMAN
  • H0YG32_HUMAN
  • H0YGE2_HUMAN
  • H0YGM1_HUMAN
  • H0YGT6_HUMAN
  • H0YGV6_HUMAN
genes like me logo Genes that share paralogs with NLRC5: view

Variants for NLRC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRC5 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
712627 Likely Benign: not provided 57,026,155(+) G/A SYNONYMOUS_VARIANT
717420 Likely Benign: not provided 57,026,224(+) G/T MISSENSE_VARIANT
717421 Benign: not provided 57,037,255(+) G/A SYNONYMOUS_VARIANT
718206 Benign: not provided 57,077,356(+) G/A SYNONYMOUS_VARIANT
723098 Likely Benign: not provided 57,061,627(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NLRC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for NLRC5 Gene

Variant ID Type Subtype PubMed ID
esv1010488 CNV gain 20482838
esv1676058 CNV insertion 17803354
esv2132758 CNV deletion 18987734
esv2254792 CNV deletion 18987734
esv2675650 CNV deletion 23128226
esv2714520 CNV deletion 23290073
esv2714521 CNV deletion 23290073
esv2714522 CNV deletion 23290073
esv2714523 CNV deletion 23290073
nsv1059098 CNV gain 25217958
nsv1113810 CNV deletion 24896259
nsv1117164 CNV tandem duplication 24896259
nsv572697 CNV loss 21841781
nsv827683 CNV loss 20364138

Variation tolerance for NLRC5 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRC5 Gene

Human Gene Mutation Database (HGMD)
NLRC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRC5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRC5 Gene

Disorders for NLRC5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NLRC5 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NLRC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NLRC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NLRC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRC5 Gene

Publications for NLRC5 Gene

  1. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. (PMID: 12615073) Dowds TA … Núñez G (Biochemical and biophysical research communications 2003) 2 3 4 54
  2. Unusual structural features revealed by the solution NMR structure of the NLRC5 caspase recruitment domain. (PMID: 24815518) Gutte PG … Zerbe O (Biochemistry 2014) 2 3 54
  3. NLRC5: a key regulator of MHC class I-dependent immune responses. (PMID: 23175229) Kobayashi KS … van den Elsen PJ (Nature reviews. Immunology 2012) 2 3 54
  4. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 41 54
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41 54

Products for NLRC5 Gene

Sources for NLRC5 Gene