LOCUS NM_014959 5460 bp mRNA linear PRI 12-NOV-2024
DEFINITION Homo sapiens caspase recruitment domain family member 8 (CARD8),
transcript variant 2, mRNA.
ACCESSION NM_014959 XM_006723095
VERSION NM_014959.5
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5460)
AUTHORS Karakaya,T., Slaufova,M., Di Filippo,M., Hennig,P., Kundig,T. and
Beer,H.D.
TITLE CARD8: A Novel Inflammasome Sensor with Well-Known
Anti-Inflammatory and Anti-Apoptotic Activity
JOURNAL Cells 13 (12), 1032 (2024)
PUBMED 38920661
REMARK GeneRIF: CARD8: A Novel Inflammasome Sensor with Well-Known
Anti-Inflammatory and Anti-Apoptotic Activity.
Review article
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 5460)
AUTHORS Fransen,K., Hiyoshi,A., Paramel,G.V. and Hurtig-Wennlof,A.
TITLE Association between C10X polymorphism in the CARD8 gene and
inflammatory markers in young healthy individuals in the LBA study
JOURNAL BMC Cardiovasc Disord 24 (1), 103 (2024)
PUBMED 38350853
REMARK GeneRIF: Association between C10X polymorphism in the CARD8 gene
and inflammatory markers in young healthy individuals in the LBA
study.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 5460)
AUTHORS Lee,Y.H. and Song,G.G.
TITLE The role of NLRP3 and CARD8 polymorphisms in the risk of rheumatoid
arthritis: A meta-analysis of genetic association studies
JOURNAL Int J Rheum Dis 26 (11), 2214-2222 (2023)
PUBMED 37712526
REMARK GeneRIF: The role of NLRP3 and CARD8 polymorphisms in the risk of
rheumatoid arthritis: A meta-analysis of genetic association
studies.
Review article
REFERENCE 4 (bases 1 to 5460)
AUTHORS Agostini,L., Martinon,F., Burns,K., McDermott,M.F., Hawkins,P.N.
and Tschopp,J.
TITLE NALP3 forms an IL-1beta-processing inflammasome with increased
activity in Muckle-Wells autoinflammatory disorder
JOURNAL Immunity 20 (3), 319-325 (2004)
PUBMED 15030775
REFERENCE 5 (bases 1 to 5460)
AUTHORS Stilo,R., Leonardi,A., Formisano,L., Di Jeso,B., Vito,P. and
Liguoro,D.
TITLE TUCAN/CARDINAL and DRAL participate in a common pathway for
modulation of NF-kappaB activation
JOURNAL FEBS Lett 521 (1-3), 165-169 (2002)
PUBMED 12067710
REMARK GeneRIF: TUCAN/CARDINAL and DRAL participate in a common pathway
for modulation of NF-kappaB activation.
REFERENCE 6 (bases 1 to 5460)
AUTHORS Wistow,G., Bernstein,S.L., Wyatt,M.K., Fariss,R.N., Behal,A.,
Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
TITLE Expressed sequence tag analysis of human RPE/choroid for the
NEIBank Project: over 6000 non-redundant transcripts, novel genes
and splice variants
JOURNAL Mol Vis 8, 205-220 (2002)
PUBMED 12107410
REMARK Publication Status: Online-Only
REFERENCE 7 (bases 1 to 5460)
AUTHORS Zhang,H. and Fu,W.
TITLE NDPP1 is a novel CARD domain containing protein which can inhibit
apoptosis and suppress NF-kappaB activation
JOURNAL Int J Oncol 20 (5), 1035-1040 (2002)
PUBMED 11956601
REMARK GeneRIF: Expression and characterization of NDPP1
REFERENCE 8 (bases 1 to 5460)
AUTHORS Razmara,M., Srinivasula,S.M., Wang,L., Poyet,J.L., Geddes,B.J.,
DiStefano,P.S., Bertin,J. and Alnemri,E.S.
TITLE CARD-8 protein, a new CARD family member that regulates caspase-1
activation and apoptosis
JOURNAL J Biol Chem 277 (16), 13952-13958 (2002)
PUBMED 11821383
REMARK GeneRIF: CARD-8 protein, a new CARD family member that regulates
caspase-1 activation and apoptosis. (card-8 protein)
REFERENCE 9 (bases 1 to 5460)
AUTHORS Bouchier-Hayes,L., Conroy,H., Egan,H., Adrain,C., Creagh,E.M.,
MacFarlane,M. and Martin,S.J.
TITLE CARDINAL, a novel caspase recruitment domain protein, is an
inhibitor of multiple NF-kappa B activation pathways
JOURNAL J Biol Chem 276 (47), 44069-44077 (2001)
PUBMED 11551959
REFERENCE 10 (bases 1 to 5460)
AUTHORS Pathan,N., Marusawa,H., Krajewska,M., Matsuzawa,S., Kim,H.,
Okada,K., Torii,S., Kitada,S., Krajewski,S., Welsh,K., Pio,F.,
Godzik,A. and Reed,J.C.
TITLE TUCAN, an antiapoptotic caspase-associated recruitment domain
family protein overexpressed in cancer
JOURNAL J Biol Chem 276 (34), 32220-32229 (2001)
PUBMED 11408476
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC404273.1, CA389350.1,
BC045539.1, BC056891.1, AF322184.1, AF511652.1, AC011466.6 and
CA448628.1.
On May 31, 2019 this sequence version replaced NM_014959.4.
Summary: The protein encoded by this gene belongs to the caspase
recruitment domain (CARD)-containing family of proteins, which are
involved in pathways leading to activation of caspases or nuclear
factor kappa-B (NFKB). This protein may be a component of the
inflammasome, a protein complex that plays a role in the activation
of proinflammatory caspases. It is thought that this protein acts
as an adaptor molecule that negatively regulates NFKB activation,
CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in
this gene may be associated with a susceptibility to rheumatoid
arthritis. Alternatively spliced transcript variants have been
described for this gene. [provided by RefSeq, May 2010].
Transcript Variant: This variant (2) differs in the 5' UTR and
lacks an alternate in-frame exon in the 5' coding region, compared
to variant 1. This results in a shorter protein (isoform b),
compared to isoform a. Variants 2, 3 and 11 encode the same isoform
(b).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1803617.173807.1,
SRR1803617.238721.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-37 DC404273.1 35-71
38-376 CA389350.1 1-339
377-472 BC045539.1 235-330
473-979 BC056891.1 597-1103
980-980 AF322184.1 756-756
981-1383 BC056891.1 1105-1507
1384-1789 BC045539.1 1242-1647
1790-3892 AF511652.1 1421-3523
3893-5014 AC011466.6 126122-127243 c
5015-5420 CA448628.1 58-463 c
5421-5460 CA448628.1 16-55 c
FEATURES Location/Qualifiers
source 1..5460
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.33"
gene 1..5460
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="caspase recruitment domain family member 8"
/db_xref="GeneID:22900"
/db_xref="HGNC:HGNC:17057"
/db_xref="MIM:609051"
exon 1..121
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 122..218
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 219..329
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 330..431
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
misc_feature 367..369
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="upstream in-frame stop codon"
CDS 373..1836
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="isoform b is encoded by transcript variant 2; tumor
up-regulated CARD-containing antagonist of caspase nine;
CARD inhibitor of NF-kappaB-activating ligands; apoptotic
protein NDPP1; tumor up-regulated CARD-containing
antagonist of CASP9"
/codon_start=1
/product="caspase recruitment domain-containing protein 8
isoform b"
/protein_id="NP_055774.2"
/db_xref="CCDS:CCDS12712.2"
/db_xref="GeneID:22900"
/db_xref="HGNC:HGNC:17057"
/db_xref="MIM:609051"
/translation="MEKKECPEKSSSSEEELPRRVYRELPCVSETLCDISHFFQEDDE
TEAEPLLFRAVPECQLSGGDIPSVSEEQESSEGQDSGDICSEENQIVSSYASKVCFEI
EEDYKNRQFLGPEGNVDVELIDKSTNRYSVWFPTAGWYLWSATGLGFLVRDEVTVTIA
FGSWSQHLALDLQHHEQWLVGGPLFDVTAEPEEAVAEIHLPHFISLQAGEVDVSWFLV
AHFKNEGMVLEHPARVEPFYAVLESPSFSLMGILLRIASGTRLSIPITSNTLIYYHPH
PEDIKFHLYLVPSDALLTKAIDDEEDRFHGVRLQTSPPMEPLNFGSSYIVSNSANLKV
MPKELKLSYRSPGEIQHFSKFYAGQMKEPIQLEITEKRHGTLVWDTEVKPVDLQLVAA
SAPPPFSGAAFVKENHRQLQARMGDLKGVLDDLQDNEVLTENEKELVEQEKTRQSKNE
ALLSMVEKKGDLALDVLFRSISERDPYLVSYLRQQNL"
exon 432..572
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 573..613
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 614..764
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 765..994
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 995..1257
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 1258..1383
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 1384..1525
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 1526..1570
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
exon 1571..5460
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/inference="alignment:Splign:2.1.0"
regulatory 2738..2743
/regulatory_class="polyA_signal_sequence"
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="hexamer: AACAAG"
polyA_site 2759
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="major polyA site"
regulatory 3868..3873
/regulatory_class="polyA_signal_sequence"
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="hexamer: AATAAA"
polyA_site 3896
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
polyA_site 5126
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
regulatory 5268..5273
/regulatory_class="polyA_signal_sequence"
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="hexamer: CATAAA"
polyA_site 5291
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
regulatory 5418..5423
/regulatory_class="polyA_signal_sequence"
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
/note="hexamer: AATAAA"
polyA_site 5460
/gene="CARD8"
/gene_synonym="CARDINAL; DACAR; DAKAR; NDPP; NDPP1; TUCAN"
ORIGIN
1 cctctgcgag cgttatttca aaagaagttg agaaccagag aaaccgacct aaggggattc
61 tcccatttgg cccgtcctac cctaaagtca ccacctgctg cttttctgga gcgcttacca
121 gtgaccaaga ggaacagaac acagagcagc ctggcagtgt ccaagcaaca agcctccgct
181 cctccttcct gcaccctggg gctcctgaaa ctcacatgag aaggagggct gtctgagatt
241 cgagggaaac aagctctcag gacttccggt cgccatgatg gctgtgggcg gtaaacgcgg
301 ttagtgcaag catctgggcc atcttcaatg gtaaaaaaga tacagtaaag acataaatac
361 cacatttgac aaatggaaaa aaaggagtgt ccagaaaaga gtagcagcag tgaggaagag
421 ctgccgagac gggtatacag ggagctaccc tgtgtttctg agaccctttg tgacatctca
481 cattttttcc aagaagatga tgagacagag gcagagccat tattgttccg tgctgttcct
541 gagtgtcaac tatctggggg ggacattccc agtgtatcag aagagcagga atcttcagag
601 ggacaagatt caggagacat ttgctcagaa gagaatcaaa tagtttcctc ttatgcttct
661 aaagtctgtt ttgagatcga agaagattat aaaaatcgtc agtttctggg gcctgaagga
721 aatgtggatg ttgagttgat tgataagagc acaaacagat acagcgtttg gttccccact
781 gctggctggt atctgtggtc agccacaggc ctcggcttcc tggtaaggga tgaggtcaca
841 gtgacgattg cgtttggttc ctggagtcag cacctggccc tggacctgca gcaccatgaa
901 cagtggctgg tgggcggccc cttgtttgat gtcactgcag agccagagga ggctgtcgcc
961 gaaatccacc tcccccactt catctccctc caagcaggtg aggtggacgt ctcctggttt
1021 ctcgttgccc attttaagaa tgaagggatg gtcctggagc atccagcccg ggtggagcct
1081 ttctatgctg tcctggaaag ccccagcttc tctctgatgg gcatcctgct gcggatcgcc
1141 agtgggactc gcctctccat ccccatcact tccaacacat tgatctatta tcacccccac
1201 cccgaagata ttaagttcca cttgtacctt gtccccagcg acgccttgct aacaaaggcg
1261 atagatgatg aggaagatcg cttccatggt gtgcgcctgc agacttcgcc cccaatggaa
1321 cccctgaact ttggttccag ttatattgtg tctaattctg ctaacctgaa agtaatgccc
1381 aaggagttga aattgtccta caggagccct ggagaaattc agcacttctc aaaattctat
1441 gctgggcaga tgaaggaacc cattcaactt gagattactg aaaaaagaca tgggactttg
1501 gtgtgggata ctgaggtgaa gccagtggat ctccagcttg tagctgcatc agcccctcct
1561 cctttctcag gtgcagcctt tgtgaaggag aaccaccggc aactccaagc caggatgggg
1621 gacctgaaag gggtgctcga tgatctccaa gacaatgagg ttcttactga gaatgagaag
1681 gagctggtgg agcaggaaaa gacacggcag agcaagaatg aggccttgct gagcatggtg
1741 gagaagaaag gggacctggc cctggacgtg ctcttcagaa gcattagtga aagggaccct
1801 tacctcgtgt cctatcttag acagcagaat ttgtaaaatg agtcagttag gtagtctgga
1861 agagagaatc cagcgttctc attggaaatg gataaacaga aatgtgatca ttgatttcag
1921 tgttcaagac agaagaagac tgggtaacat ctatcacaca ggctttcagg acagacttgt
1981 aacctggcat gtacctattg actgtatcct catgcatttt cctcaagaat gtctgaagaa
2041 ggtagtaata ttccttttaa attttttcca accattgctt gatatatcac tattttatcc
2101 attgacatga ttcttgaaga cccaggataa aggacatccg gataggtgtg tttatgaagg
2161 atggggcctg gaaaggcaac ttttcctgat taatgtgaaa aataattcct atggacactc
2221 cgtttgaagt atcaccttct cataactaaa agcagaaaag ctaacaaaag cttctcagct
2281 gaggacactc aaggcataca tgatgacagt cttttttttt tttgtatgtt aggactttaa
2341 cactttatct atggctactg ttattagaac aatgtaaatg tatttgctga aagagagcac
2401 aaaaatggga gaaaatgcaa acatgagcag aaaatatttt cccactggtg tgtagcctgc
2461 tacaaggagt tgttgggtta aatgttcatg gtcaactcca aggaatactg agatgaaatg
2521 tggtaaatca actccacaga accaccaaaa agaaaatgag ggtaattcag cttattctga
2581 gacagacatt cctggcaatg taccatacaa aaaataagcc aactctgaca tttggattct
2641 accatagact ctgtcatttt gtagccattt cagctgtctt ttgattaatg ttttcgtggc
2701 acacatattt ccatcctttt atgtttaatc tgtttaaaac aagttcctag tagacaccat
2761 ctggttgagt cagttttttt tatggtgtat tttgaaccca ttctgatagt ctcttttaac
2821 tggaagattt caattactta cgttaatgta attattaata tgttaggatt tatcctcagt
2881 cagccagttt gttatgtctt ttctattcta ctgttatcac atttgtacca cttaaagtgg
2941 aatctaggca ctttatcacc atttagatcc tattaccttt tctcatctag gatatagtta
3001 tcttctacat aatctttctg tatcttaaaa cccatcaata aattattata tattttctac
3061 ttttaatcac tcagaagatt taaaaaactc atgagaagag taatctgtta tgtttttcca
3121 gatatttacc atttctgttg ctcttccttc attattttcc aaatttcgtt ctgcaaattt
3181 ccacttcctc tgatagacgt tttttagttc ttttagagtg gttctgatag gtacagattc
3241 tcttattttt tgcttcctct gaggacatct ttttctcacc ttcattctca gtgatgtttt
3301 ttgcttgtag tatttttagt tgacattgtt ttctgttcag cagtttcctt ttagcttccg
3361 tatttcctga tgagaaatct gcagtcattc aaattgttgt ttccctgtat gtagtgtgtc
3421 atttttctgt cagatttcaa ggtatttatc tttagttttt agccatttca ttatgttggg
3481 gatgagtttc cttgttttat tccctttgga atttgctcca attcataaat ttgcagtttt
3541 atgtctttta ccaaacttag aggttttcag cctaatttct aaaaatactt tttattagcc
3601 tgattttcat ctttatagga aatagtttaa gtgatgacaa gttccaatag cttatatgcc
3661 cagaaggcct tcaaaataag aattttgaaa gaatacagaa aacaaacttt tatatccttc
3721 tcatgtcttc tactgtaaaa ttcatatgct ttgctactct aaacctagtt tgaaatcaac
3781 agtcttgaga atagatgaaa attttgatga atagtggaat tcttttaaat ggaaacctct
3841 tacatgtgat tttccttgcc atctagaaat aaaccatagt atttatgttg aatcaatcaa
3901 tattatattt tgtttttttc ctcctcttct gagactctta ttgtggaaat gttagacttt
3961 tatgttttcc taaatgtccc tgatattcta cttatttaga acatcttttc attttttcca
4021 ttattctgat tgggtaattt taatttgtct attttcaaat ttgctggagt gttcacctgt
4081 tgttatctgt gtcgtcccac tgagtgcatt caccaccttt taaattttgg tcactgtatg
4141 tatcagttct aaaatttcca ttttgttctc tatattttaa atttcttgcc ttatattcta
4201 ttttcctgca aatgtgtcag catttgcttg tttgagcttt ttttttttca agacagggtc
4261 tcaactctgt tacccaggct ggagtgcagt ggtgcgatct cagctcactg caacctctgc
4321 ctcctggttc aagcgattat tgtgcctcag cctccagagt agctgggatt acaggcatgc
4381 accaccacag cccagctaat tttttgtatt tttagtagag acagagtttt gctatgttgg
4441 ccaggctggt tttgaactcc tggcctcaag tgatccaccc acctcagcct cccaaagtgc
4501 tgggattaca ggccactaca cctggcacat ttgagtattt tttttttttt tttttttttt
4561 ttgagatgga gtctcgctct gtcatctagg ctggagtgca gtggtgtgat ctcagctcac
4621 tgcagcctct gtctcccggg ctcaagcgat tctcttgcct cagcctcctg agtagctagg
4681 actacaggtg catgccaaca cgcccggcta attttttttt aaaaatattt ttagtagaga
4741 cagggtttca ccattttggc caggatggtc ttgatctcct gacctcatga tccacccgcc
4801 tcggccttcc aaagtgctgg gattacaggc atgagccacc gtgcctggcc tcatttgagt
4861 atttttataa tgtctctttt aaagtctttg tcagataatt tcactgtaca tgttattcag
4921 tgtttggtgt ccactgagtt gtcatttgcc agacaagtgg agatttttgc agctcatcct
4981 tgtattctca gtagttccga tatgtaccct cgaaatgtga atgttatctt atgagactct
5041 gttttatttg tatccaacag aagatgttta ttatttattt ggctttctgt gaactgaggt
5101 cttaatatca gctcatttta aaagtctttg cagtggtatt cggatctatc ctgtgtgtgc
5161 ctatgagatt gggtgcagtg tatcctgtta gctccattct cagggcgttt gaatgtgaat
5221 taggaccagc gcaatgaatg ctcaagttgg ggttgggcgt tagaattcat aaaagtcttt
5281 atatgctcag attctgcagc tccatcctct tcatgattgt gatcgtaagg acagtggaat
5341 tttgcagttg tctatacctt atcttgaagt agaactaaat tgttacattt gaagaatgta
5401 cttcataaat ttacaaaaat aaaaaaatag gttaatgtta ttaaaacaaa aaggcacaca
//