Q9Y2G2 (CARD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 113.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Caspase recruitment domain-containing protein 8 Alternative name(s): Apoptotic protein NDPP1 CARD-inhibitor of NF-kappa-B-activating ligand Short name=CARDINAL DACAR Tumor up-regulated CARD-containing antagonist of CASP9 Short name=TUCAN | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 431 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases. |
| Subunit structure | May form homodimers. Interacts with NEMO and DRAL. Binds to caspase-1, CARD16/pseudo-ICE and CARD18/ICEBERG. Interacts with FNBP3 By similarity. Interacts with NALP2 NACHT domain. Ref.2 Ref.14 |
| Subcellular location | |
| Tissue specificity | High expression in lung, ovary, testis and placenta. Lower expression in heart, kidney and liver. Also expressed in spleen, lymph node and bone marrow. |
| Sequence similarities | Contains 1 CARD domain. |
| Sequence caution | The sequence BAA76799.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Apoptosis |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | negative regulation of I-kappaB kinase/NF-kappaB cascade Inferred from direct assay Ref.5. Source: HGNC positive regulation of interleukin-1 beta secretionInferred from direct assay Ref.14. Source: HGNC |
| Cellular_component | NLRP3 inflammasome complex Inferred from direct assay Ref.14. Source: UniProtKB cytoplasmInferred from direct assay Ref.14. Source: HGNC nucleusInferred from direct assay Ref.5. Source: HGNC |
| Molecular_function | cysteine-type endopeptidase activator activity involved in apoptotic process Inferred from direct assay Ref.14. Source: HGNC protein homodimerization activityInferred from direct assay Ref.14. Source: HGNC |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y2G2-1) Also known as: Long; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9Y2G2-2) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 282-286: ELKLS → WISSL 287-431: Missing. | ||||||
| Isoform 3 (identifier: Q9Y2G2-3) The sequence of this isoform differs from the canonical sequence as follows: 1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS 152-152: Q → QA 282-286: ELKLS → WISSL 287-431: Missing. | ||||||
| Isoform 4 (identifier: Q9Y2G2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS 152-152: Q → QA | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q9Y2G2-5) Also known as: T60; The sequence of this isoform differs from the canonical sequence as follows: 1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS 152-152: Q → QA |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 431 | 431 | Caspase recruitment domain-containing protein 8 | PRO_0000144080 | |||||
Regions | |||||||||
| Domain | 340 – 430 | 91 | CARD | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 25 | 25 | MMRQR…GGTFP → MEKKECPEKSSSSEEELPRR DSGSSRNIDASKLIRLQGSR KLLVDNSIRELQYTKTGIFF QAEACVTNDTVYRELPCVSE TLCDISHFFQEDDETEAEPL LFRAVPECQLSGGDIPSVSE EQESSEGQDS in isoform 3 and isoform 5. | VSP_012770 | |||||
| Alternative sequence | 1 – 25 | 25 | MMRQR…GGTFP → MEKKECPEKSSSSEEELPRR VYRELPCVSETLCDISHFFQ EDDETEAEPLLFRAVPECQL SGGDIPSVSEEQESSEGQDS in isoform 4. | VSP_045253 | |||||
| Alternative sequence | 152 | 1 | Q → QA in isoform 3, isoform 4 and isoform 5. | VSP_012771 | |||||
| Alternative sequence | 282 – 286 | 5 | ELKLS → WISSL in isoform 2 and isoform 3. | VSP_000782 | |||||
| Alternative sequence | 287 – 431 | 145 | Missing in isoform 2 and isoform 3. | VSP_000783 | |||||
| Natural variant | 68 | 1 | I → V. Ref.8 Corresponds to variant rs11881179 [ dbSNP | Ensembl ]. | VAR_048606 | |||||
| Natural variant | 99 | 1 | E → A. Ref.8 Corresponds to variant rs59878320 [ dbSNP | Ensembl ]. | VAR_061079 | |||||
Experimental info | |||||||||
| Mutagenesis | 366 | 1 | L → R: Inhibits homodimer formation. Ref.13 | ||||||
| Sequence conflict | 60 | 1 | E → G in AAL02427. Ref.5 | ||||||
| Sequence conflict | 148 | 1 | F → S in AAH56891. Ref.11 | ||||||
| Sequence conflict | 219 | 1 | P → R in BAH12488. Ref.8 | ||||||
| Sequence conflict | 326 | 1 | V → M in AAL02427. Ref.5 | ||||||
| Sequence conflict | 417 | 1 | E → G in ABW96891. Ref.6 | ||||||
| Sequence conflict | 422 | 1 | L → P in AAL02427. Ref.5 | ||||||
| Isoform 5: | |||||||||
| Sequence conflict | 84 | 1 | D → G in ABW96891. Ref.6 | ||||||
| Sequence conflict | 107 | 1 | E → D in ABW96891. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [2] | "CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis." Razmara M., Srinivasula S.M., Wang L., Poyet J.-L., Geddes B.J., DiStefano P.S., Bertin J., Alnemri E.S. J. Biol. Chem. 277:13952-13958(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CARD16 AND CARD18. |
| [3] | "NDPP1 is a novel CARD domain containing protein which can inhibit apoptosis and suppress NF-kappaB activation." Zhang H., Fu W. Int. J. Oncol. 20:1035-1040(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [4] | "DACAR, a novel CARD-containing protein." Guiet C., Vito P. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [5] | "CARDINAL, a novel caspase recruitment domain protein, is an inhibitor of multiple NF-kappa B activation pathways." Bouchier-Hayes L., Conroy H., Egan H., Adrain C., Creagh E.M., MacFarlane M., Martin S.J. J. Biol. Chem. 276:44069-44077(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [6] | "Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation." Bagnall R.D., Roberts R.G., Mirza M.M., Torigoe T., Prescott N.J., Mathew C.G. Eur. J. Hum. Genet. 16:619-625(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), ALTERNATIVE SPLICING. |
| [7] | Guo J.H., Yu L. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Kidney. |
| [8] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANTS VAL-68 AND ALA-99. Tissue: Umbilical cord blood. |
| [9] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [10] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [11] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Eye. |
| [12] | "TUCAN, an antiapoptotic caspase-associated recruitment domain family protein overexpressed in cancer." Pathan N., Marusawa H., Krajewska M., Matsuzawa S., Kim H., Okada K., Torii S., Kitada S., Krajewski S., Welsh K., Pio F., Godzik A., Reed J.C. J. Biol. Chem. 276:32220-32229(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION. |
| [13] | "TUCAN/CARDINAL and DRAL participate in a common pathway for modulation of NF-kappaB activation." Stilo R., Leonardi A., Formisano L., Di Jeso B., Vito P., Liguoro D. FEBS Lett. 521:165-169(2002) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION, MUTAGENESIS OF LEU-366. |
| [14] | "NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder." Agostini L., Martinon F., Burns K., McDermott M.F., Hawkins P.N., Tschopp J. Immunity 20:319-325(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NALP2, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB023172 mRNA. Translation: BAA76799.2. Different initiation. AF322184 mRNA. Translation: AAG50014.1. AF331519 mRNA. Translation: AAK01126.1. AY026322 mRNA. Translation: AAK08982.1. AF405558 mRNA. Translation: AAL02427.1. EU118120 mRNA. Translation: ABW96891.1. AF511652 mRNA. Translation: AAM46959.1. AK297045 mRNA. Translation: BAH12482.1. AK297069 mRNA. Translation: BAH12488.1. AC008392 Genomic DNA. No translation available. AC011466 Genomic DNA. No translation available. CH471177 Genomic DNA. Translation: EAW52321.1. CH471177 Genomic DNA. Translation: EAW52323.1. BC056891 mRNA. Translation: AAH56891.1. |
| IPI | IPI00032131. IPI00218145. IPI00642708. IPI00942890. IPI00977493. |
| RefSeq | NP_001171829.1. NM_001184900.1. NP_001171830.1. NM_001184901.1. NP_001171831.1. NM_001184902.1. NP_001171832.1. NM_001184903.1. NP_055774.2. NM_014959.3. |
| UniGene | Hs.446146. Hs.655940. |
3D structure databases | |
| ProteinModelPortal | Q9Y2G2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y2G2. 3 interactions. |
| MINT | MINT-202188. |
| STRING | 9606.ENSP00000351901. |
Protein family/group databases | |
| MEROPS | S79.001. |
Polymorphism databases | |
| DMDM | 14424229. |
Proteomic databases | |
| PaxDb | Q9Y2G2. |
| PRIDE | Q9Y2G2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359009; ENSP00000351901; ENSG00000105483. ENST00000391898; ENSP00000375767; ENSG00000105483. ENST00000447740; ENSP00000391248; ENSG00000105483. ENST00000519940; ENSP00000428883; ENSG00000105483. ENST00000520015; ENSP00000430747; ENSG00000105483. ENST00000520153; ENSP00000428736; ENSG00000105483. ENST00000520753; ENSP00000429839; ENSG00000105483. ENST00000521613; ENSP00000427858; ENSG00000105483. |
| GeneID | 22900. |
| KEGG | hsa:22900. |
| UCSC | uc002pie.4. human. uc002pif.4. human. uc002pii.4. human. |
Organism-specific databases | |
| CTD | 22900. |
| GeneCards | GC19M048711. |
| H-InvDB | HIX0020041. |
| HGNC | HGNC:17057. CARD8. |
| HPA | HPA042071. HPA043513. |
| MIM | 609051. gene. |
| neXtProt | NX_Q9Y2G2. |
| PharmGKB | PA134916154. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG146295. |
| HOVERGEN | HBG050795. |
| KO | K12801. |
| PhylomeDB | Q9Y2G2. |
Gene expression databases | |
| ArrayExpress | Q9Y2G2. |
| Bgee | Q9Y2G2. |
| CleanEx | HS_CARD8. |
| Genevestigator | Q9Y2G2. |
| GermOnline | ENSG00000105483. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.10.533.10. 1 hit. |
| InterPro | IPR001315. CARD. IPR011029. DEATH-like_dom. IPR025307. FIIND_dom. [Graphical view] |
| Pfam | PF00619. CARD. 1 hit. PF13553. FIIND. 1 hit. [Graphical view] |
| SMART | SM00114. CARD. 1 hit. [Graphical view] |
| SUPFAM | SSF47986. DEATH_like. 1 hit. |
| PROSITE | PS50209. CARD. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CARD8. human. |
| GenomeRNAi | 22900. |
| NextBio | 43531. |
| SOURCE | Search... |
Entry information
| Entry name | CARD8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y2G2 Secondary accession number(s): B5KVR6 Q96P82 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
