CARD16 (caspase recruitment domain family member 16)

Gene

• Entrez ID: 114769
• Gene name: Caspase recruitment domain family member 16
• Gene symbol: CARD16
• Synonyms (NCBI Gene): COP, COP1, LLID-114769, PSEUDO-ICE
• Chromosome: 11
• Chromosome location: 11q22.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004197	Function	Cysteine-type endopeptidase activity	IEA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	11432859, 16920334
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	11536016, 11821383, 15383541
GO:0006508	Process	Proteolysis	IEA
GO:0010804	Process	Negative regulation of tumor necrosis factor-mediated signaling pathway	IMP	16920334
GO:0019899	Function	Enzyme binding	IEA
GO:0019900	Function	Kinase binding	IPI	11432859, 11536016, 15383541
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031665	Process	Negative regulation of lipopolysaccharide-mediated signaling pathway	IDA	11432859
GO:0032091	Process	Negative regulation of protein binding	IDA	11536016
GO:0032651	Process	Regulation of interleukin-1 beta production	IEA
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IDA	11432859, 11536016, 15383541, 16920334
GO:0032991	Component	Protein-containing complex	IDA	11536016, 11821383, 15383541, 16920334
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IDA	11432859
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	15383541
GO:0050700	Function	CARD domain binding	IPI	11821383
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	11536016
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	15383541
GO:0089720	Function	Caspase binding	IPI	11432859, 11536016, 16920334
GO:0097179	Component	Protease inhibitor complex	IDA	11432859

Other IDs

• MIM: 615680
• HGNC: 33701
• e!Ensembl: ENSG00000204397

Protein

• UniProt ID: Q5EG05
• Protein name: Caspase recruitment domain-containing protein 16 (Caspase recruitment domain-only protein 1) (CARD-only protein 1) (Caspase-1 inhibitor COP) (Pseudo interleukin-1 beta converting enzyme) (Pseudo-ICE) (Pseudo-IL1B-converting enzyme)
• Protein function: Caspase inhibitor. Acts as a regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00619	CARD	3 → 90	Caspase recruitment domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, spleen, lymph node and bone marrow. Weakly or not expressed in thymus. {ECO:0000269|PubMed:11432859, ECO:0000269|PubMed:11536016}.
• Sequence:

  MADKVLKEKRKLFIHSMGEGTINGLLDELLQTRVLNQEEMEKVKRENATVMDKTRALIDS
  VIPKGAQACQICITYICEEDSYLAETLGLSAALQAVQDNPAMPTCSSPEGRIKLCFLEDA
  QRIWKQKLQRCHVQNTIIKWSERYTSGSFEMQWLFLRTNFIERFWRNILLLPLHKGSLYP
  RIPGLGKELQTGTHKLS

• Sequence length: 197

Pathways

KEGG:

NOD-like receptor signaling pathway

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
ASPHYXIA NEONATORUM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinogenesis	Associate	24018495	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	24018495	★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Associate	39261532	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Stimulate	38169383	★☆☆☆☆ Found in Text Mining only