NLRP10 (NLR family pyrin domain containing 10)

Gene

• Entrez ID: 338322
• Gene name: NLR family pyrin domain containing 10
• Gene symbol: NLRP10
• Synonyms (NCBI Gene): CLR11.1, NALP10, NOD8, PAN5, PYNOD
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017739	hsa-miR-335-5p	Microarray	18185580
MIRT723414	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT723413	hsa-miR-10b-3p	HITS-CLIP	19536157
MIRT723412	hsa-miR-4485-5p	HITS-CLIP	19536157
MIRT723411	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT723410	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT723409	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT723408	hsa-miR-1281	HITS-CLIP	19536157
MIRT723407	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT723406	hsa-miR-1976	HITS-CLIP	19536157
MIRT723404	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT723405	hsa-miR-4279	HITS-CLIP	19536157
MIRT723403	hsa-miR-498	HITS-CLIP	19536157
MIRT723414	hsa-miR-5571-5p	HITS-CLIP	19536157
MIRT723413	hsa-miR-10b-3p	HITS-CLIP	19536157
MIRT723412	hsa-miR-4485-5p	HITS-CLIP	19536157
MIRT723411	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT723410	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT723409	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT723408	hsa-miR-1281	HITS-CLIP	19536157
MIRT723407	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT723406	hsa-miR-1976	HITS-CLIP	19536157
MIRT723404	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT723405	hsa-miR-4279	HITS-CLIP	19536157
MIRT723403	hsa-miR-498	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002218	Process	Activation of innate immune response	IMP	22672233
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	IEA
GO:0002827	Process	Positive regulation of T-helper 1 type immune response	ISS
GO:0003924	Function	GTPase activity	IDA	23861819
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22672233
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	22672233
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	23861819
GO:0031349	Process	Positive regulation of defense response	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	IMP	28766990
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	22672233
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	22672233
GO:0045087	Process	Innate immune response	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0050778	Process	Positive regulation of immune response	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0050832	Process	Defense response to fungus	ISS
GO:1900426	Process	Positive regulation of defense response to bacterium	IMP	28766990
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	IEA
GO:2000318	Process	Positive regulation of T-helper 17 type immune response	ISS

Other IDs

• MIM: 609662
• HGNC: 21464
• e!Ensembl: ENSG00000182261

Protein

• UniProt ID: Q86W26
• Protein name: NACHT, LRR and PYD domains-containing protein 10 (Nucleotide-binding oligomerization domain protein 8)
• Protein function: Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID (PubMed:15096476). Displays anti-inflammatory activity (PubMed:20393137). Required for imm
• PDB: 2M5V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	12 → 88	PAAD/DAPIN/Pyrin domain	Domain
  PF05729	NACHT	167 → 331	NACHT domain	Domain
  PF17779	NOD2_WH	408 → 464	NOD2 winged helix domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in basal and suprabasal epidermal cell layers with lower levels in dermal fibroblast cells (at protein level) (PubMed:22672233). Widely expressed with highest levels in heart, brain and skeletal muscle (PubMed:15096476
• Sequence:

  MAMAKARKPREALLWALSDLEENDFKKLKFYLRDMTLSEGQPPLARGELEGLIPVDLAEL
  LISKYGEKEAVKVVLKGLKVMNLLELVDQLSHICLHDYREVYREHVRCLEEWQEAGVNGR
  YNQVLLVAKPSSESPESLACPFPEQELESVTVEALFDSGEKPSLAPSLVVLQGSAGTGKT
  TLARKMVLDWATGTLYPGRFDYVFYVSCKEVVLLLESKLEQLLFWCCGDNQAPVTEILRQ
  PERLLFILDGFDELQRPFEEKLKKRGLSPKESLLHLLIRRHTLPTCSLLITTRPLALRNL
  EPLLKQARHVHILGFSEEERARYFSSYFTDEKQADRAFDIVQKNDILYKACQVPGICWVV
  CSWLQGQMERGKVVLETPRNSTDIFMAYVSTFLPPDDDGGCSELSRHRVLRSLCSLAAEG
  IQHQRFLFEEAELRKHNLDGPRLAAFLSSNDYQLGLAIKKFYSFRHISFQDFFHAMSYLV
  KEDQSRLGKESRREVQRLLEVKEQEGNDEMTLTMQFLLDISKKDSFSNLELKFCFRISPC
  LAQDLKHFKEQMESMKHNRTWDLEFSLYEAKIKNLVKGIQMNNVSFKIKHSNEKKSQSQN
  LFSVKSSLSHGPKEEQKCPSVHGQKEGKDNIAGTQKEASTGKGRGTEETPKNTYI

• Sequence length: 655

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Dermatitis, Atopic	Dermatitis	BEFREE	23042114		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23042114		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28766990		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	28766990	Associate	★☆☆☆☆ Found in Text Mining only