UniProtKB - Q9BXL6 (CAR14_HUMAN)
Protein
Caspase recruitment domain-containing protein 14
Gene
CARD14
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27113748, PubMed:27071417). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis.4 Publications
Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359).2 Publications
Caution
Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART.Curated
GO - Molecular functioni
- CARD domain binding Source: UniProtKB
GO - Biological processi
- activation of NF-kappaB-inducing kinase activity Source: UniProtKB
- apoptotic process Source: UniProtKB-KW
- negative regulation of apoptotic process Source: UniProtKB
- positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
- positive regulation of protein phosphorylation Source: UniProtKB
- tumor necrosis factor-mediated signaling pathway Source: UniProtKB
Keywordsi
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q9BXL6 |
Names & Taxonomyi
Protein namesi | Recommended name: Caspase recruitment domain-containing protein 14Alternative name(s): CARD-containing MAGUK protein 2 Short name: Carma 2 |
Gene namesi | Name:CARD14 Synonyms:CARMA2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000141527.16 |
HGNCi | HGNC:16446, CARD14 |
MIMi | 607211, gene |
neXtProti | NX_Q9BXL6 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Other locations
- Cytoplasm 1 Publication
Other locations
- Cytoplasm 1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Psoriasis 2 (PSORS2)5 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078583 | 69 | R → W in PSORS2; reduces NF-kappa-B activation. 1 PublicationCorresponds to variant dbSNP:rs375624435EnsemblClinVar. | 1 | |
Natural variantiVAR_068224 | 117 | G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar. | 1 | |
Natural variantiVAR_068225 | 138 | E → A in PSORS2; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 4 PublicationsCorresponds to variant dbSNP:rs281875214EnsemblClinVar. | 1 | |
Natural variantiVAR_068226 | 142 | E → G in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs281875213EnsemblClinVar. | 1 | |
Natural variantiVAR_068227 | 142 | E → K in PSORS2; increases NF-kappaB transcription factor activity; enhances MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875212EnsemblClinVar. | 1 | |
Natural variantiVAR_068228 | 150 | L → R in PSORS2; increases NF-kappaB transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs146214639EnsemblClinVar. | 1 | |
Natural variantiVAR_078586 | 151 | R → Q in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200731780Ensembl. | 1 | |
Natural variantiVAR_078587 | 151 | R → W in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs777305616Ensembl. | 1 | |
Natural variantiVAR_078588 | 197 | E → K in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200790561EnsemblClinVar. | 1 | |
Natural variantiVAR_078589 | 209 | L → P in PSORS2; unknown pathological significance; no effect on NF-kappaB transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_078590 | 216 | A → T in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs574982768Ensembl. | 1 | |
Natural variantiVAR_078595 | 420 | T → A in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs762364495Ensembl. | 1 | |
Natural variantiVAR_078596 | 602 | S → L in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs201285077EnsemblClinVar. | 1 | |
Natural variantiVAR_078597 | 639 | A → G in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 Publication | 1 |
Pityriasis rubra pilaris (PRP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068224 | 117 | G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar. | 1 | |
Natural variantiVAR_078584 | 127 | C → S in PRP. 1 Publication | 1 | |
Natural variantiVAR_078585 | 136 | Q → L in PRP. 1 Publication | 1 | |
Natural variantiVAR_068819 | 138 | Missing in PRP. 1 Publication | 1 | |
Natural variantiVAR_068820 | 156 | L → P in PRP. 1 PublicationCorresponds to variant dbSNP:rs387907240EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 79092 |
MalaCardsi | CARD14 |
MIMi | 173200, phenotype 602723, phenotype |
OpenTargetsi | ENSG00000141527 |
Orphaneti | 2897, Pityriasis rubra pilaris |
PharmGKBi | PA134959119 |
Miscellaneous databases
Pharosi | Q9BXL6, Tbio |
Polymorphism and mutation databases
BioMutai | CARD14 |
DMDMi | 296434421 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144088 | 1 – 1004 | Caspase recruitment domain-containing protein 14Add BLAST | 1004 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 544 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q9BXL6 |
MassIVEi | Q9BXL6 |
MaxQBi | Q9BXL6 |
PaxDbi | Q9BXL6 |
PeptideAtlasi | Q9BXL6 |
PRIDEi | Q9BXL6 |
ProteomicsDBi | 7285 79449 [Q9BXL6-1] |
PTM databases
iPTMneti | Q9BXL6 |
PhosphoSitePlusi | Q9BXL6 |
Expressioni
Tissue specificityi
Isoform 1 is detected in placenta and epidermal keratinocytes (PubMed:22521418). Isoform 2 is detected in leukocytes and fetal brain (PubMed:22521418).1 Publication
Gene expression databases
Bgeei | ENSG00000141527, Expressed in ectocervix and 152 other tissues |
ExpressionAtlasi | Q9BXL6, baseline and differential |
Genevisiblei | Q9BXL6, HS |
Organism-specific databases
HPAi | ENSG00000141527, Tissue enhanced (esophagus, skin, tongue) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsIsoform 2 [Q9BXL6-2]
With | #Exp. | IntAct |
---|---|---|
PRPF31 [Q8WWY3] | 4 | EBI-12114736,EBI-1567797 |
ZNF648 [Q5T619] | 3 | EBI-12114736,EBI-11985915 |
GO - Molecular functioni
- CARD domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 122540, 12 interactors |
IntActi | Q9BXL6, 7 interactors |
STRINGi | 9606.ENSP00000458715 |
Miscellaneous databases
RNActi | Q9BXL6, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 15 – 107 | CARDPROSITE-ProRule annotationAdd BLAST | 93 | |
Domaini | 568 – 658 | PDZPROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 807 – 990 | Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST | 184 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 409 – 568 | Maintains the protein in an inactive state1 PublicationAdd BLAST | 160 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 128 – 409 | Sequence analysisAdd BLAST | 282 |
Domaini
A linker region between the coiled-coil and PDZ region holds the protein in an inactive state (PubMed:27071417).1 Publication
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0708, Eukaryota |
GeneTreei | ENSGT00940000160777 |
HOGENOMi | CLU_009760_0_0_1 |
InParanoidi | Q9BXL6 |
OMAi | YTLVRPH |
OrthoDBi | 115953at2759 |
PhylomeDBi | Q9BXL6 |
TreeFami | TF315606 |
Family and domain databases
Gene3Di | 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001315, CARD IPR011029, DEATH-like_dom_sf IPR008144, Guanylate_kin-like_dom IPR027417, P-loop_NTPase IPR001478, PDZ IPR036034, PDZ_sf |
Pfami | View protein in Pfam PF00619, CARD, 1 hit |
SUPFAMi | SSF47986, SSF47986, 1 hit SSF50156, SSF50156, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50209, CARD, 1 hit PS50052, GUANYLATE_KINASE_2, 1 hit PS50106, PDZ, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BXL6-1) [UniParc]FASTAAdd to basket
Also known as: CARD14fl1 Publication, CARMA2fl1 Publication
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGELCRRDSA LTALDEETLW EMMESHRHRI VRCICPSRLT PYLRQAKVLC
60 70 80 90 100
QLDEEEVLHS PRLTNSAMRA GHLLDLLKTR GKNGAIAFLE SLKFHNPDVY
110 120 130 140 150
TLVTGLQPDV DFSNFSGLME TSKLTECLAG AIGSLQEELN QEKGQKEVLL
160 170 180 190 200
RRCQQLQEHL GLAETRAEGL HQLEADHSRM KREVSAHFHE VLRLKDEMLS
210 220 230 240 250
LSLHYSNALQ EKELAASRCR SLQEELYLLK QELQRANMVS SCELELQEQS
260 270 280 290 300
LRTASDQESG DEELNRLKEE NEKLRSLTFS LAEKDILEQS LDEARGSRQE
310 320 330 340 350
LVERIHSLRE RAVAAERQRE QYWEEKEQTL LQFQKSKMAC QLYREKVNAL
360 370 380 390 400
QAQVCELQKE RDQAYSARDS AQREISQSLV EKDSLRRQVF ELTDQVCELR
410 420 430 440 450
TQLRQLQAEP PGVLKQEART REPCPREKQR LVRMHAICPR DDSDCSLVSS
460 470 480 490 500
TESQLLSDLS ATSSRELVDS FRSSSPAPPS QQSLYKRVAE DFGEEPWSFS
510 520 530 540 550
SCLEIPEGDP GALPGAKAGD PHLDYELLDT ADLPQLESSL QPVSPGRLDV
560 570 580 590 600
SESGVLMRRR PARRILSQVT MLAFQGDALL EQISVIGGNL TGIFIHRVTP
610 620 630 640 650
GSAADQMALR PGTQIVMVDY EASEPLFKAV LEDTTLEEAV GLLRRVDGFC
660 670 680 690 700
CLSVKVNTDG YKRLLQDLEA KVATSGDSFY IRVNLAMEGR AKGELQVHCN
710 720 730 740 750
EVLHVTDTMF QGCGCWHAHR VNSYTMKDTA AHGTIPNYSR AQQQLIALIQ
760 770 780 790 800
DMTQQCTVTR KPSSGGPQKL VRIVSMDKAK ASPLRLSFDR GQLDPSRMEG
810 820 830 840 850
SSTCFWAESC LTLVPYTLVR PHRPARPRPV LLVPRAVGKI LSEKLCLLQG
860 870 880 890 900
FKKCLAEYLS QEEYEAWSQR GDIIQEGEVS GGRCWVTRHA VESLMEKNTH
910 920 930 940 950
ALLDVQLDSV CTLHRMDIFP IVIHVSVNEK MAKKLKKGLQ RLGTSEEQLL
960 970 980 990 1000
EAARQEEGDL DRAPCLYSSL APDGWSDLDG LLSCVRQAIA DEQKKVVWTE
QSPR
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C0J4 | A0A494C0J4_HUMAN | Caspase recruitment domain-containi... | CARD14 | 854 | Annotation score: | ||
I3L414 | I3L414_HUMAN | Caspase recruitment domain family, ... | CARD14 hCG_28572 | 493 | Annotation score: | ||
A0A494BZY0 | A0A494BZY0_HUMAN | Caspase recruitment domain-containi... | CARD14 | 553 | Annotation score: | ||
A0A494C199 | A0A494C199_HUMAN | Caspase recruitment domain-containi... | CARD14 | 636 | Annotation score: | ||
A0A494C1N2 | A0A494C1N2_HUMAN | Caspase recruitment domain-containi... | CARD14 | 1,013 | Annotation score: | ||
I3L3F1 | I3L3F1_HUMAN | Caspase recruitment domain-containi... | CARD14 | 475 | Annotation score: | ||
I3L1Z7 | I3L1Z7_HUMAN | Caspase recruitment domain-containi... | CARD14 | 70 | Annotation score: | ||
A0A3B3ITQ9 | A0A3B3ITQ9_HUMAN | Caspase recruitment domain-containi... | CARD14 | 84 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068222 | 38 | R → C1 PublicationCorresponds to variant dbSNP:rs281875217EnsemblClinVar. | 1 | |
Natural variantiVAR_068223 | 62 | R → Q2 PublicationsCorresponds to variant dbSNP:rs115582620EnsemblClinVar. | 1 | |
Natural variantiVAR_078583 | 69 | R → W in PSORS2; reduces NF-kappa-B activation. 1 PublicationCorresponds to variant dbSNP:rs375624435EnsemblClinVar. | 1 | |
Natural variantiVAR_068224 | 117 | G → S in PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 6 PublicationsCorresponds to variant dbSNP:rs281875215EnsemblClinVar. | 1 | |
Natural variantiVAR_078584 | 127 | C → S in PRP. 1 Publication | 1 | |
Natural variantiVAR_078585 | 136 | Q → L in PRP. 1 Publication | 1 | |
Natural variantiVAR_068225 | 138 | E → A in PSORS2; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity. 4 PublicationsCorresponds to variant dbSNP:rs281875214EnsemblClinVar. | 1 | |
Natural variantiVAR_068819 | 138 | Missing in PRP. 1 Publication | 1 | |
Natural variantiVAR_068226 | 142 | E → G in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs281875213EnsemblClinVar. | 1 | |
Natural variantiVAR_068227 | 142 | E → K in PSORS2; increases NF-kappaB transcription factor activity; enhances MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875212EnsemblClinVar. | 1 | |
Natural variantiVAR_068228 | 150 | L → R in PSORS2; increases NF-kappaB transcription factor activity. 2 PublicationsCorresponds to variant dbSNP:rs146214639EnsemblClinVar. | 1 | |
Natural variantiVAR_078586 | 151 | R → Q in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200731780Ensembl. | 1 | |
Natural variantiVAR_078587 | 151 | R → W in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs777305616Ensembl. | 1 | |
Natural variantiVAR_068820 | 156 | L → P in PRP. 1 PublicationCorresponds to variant dbSNP:rs387907240EnsemblClinVar. | 1 | |
Natural variantiVAR_068229 | 171 | H → N May be associated with susceptibility to psoriasis; does not change MALT1 protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875216EnsemblClinVar. | 1 | |
Natural variantiVAR_068230 | 176 | D → H2 PublicationsCorresponds to variant dbSNP:rs144475004EnsemblClinVar. | 1 | |
Natural variantiVAR_068231 | 179 | R → H1 PublicationCorresponds to variant dbSNP:rs199517469EnsemblClinVar. | 1 | |
Natural variantiVAR_068232 | 191 | V → L1 PublicationCorresponds to variant dbSNP:rs281875218EnsemblClinVar. | 1 | |
Natural variantiVAR_078588 | 197 | E → K in PSORS2; increases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200790561EnsemblClinVar. | 1 | |
Natural variantiVAR_068233 | 200 | S → N2 PublicationsCorresponds to variant dbSNP:rs114688446EnsemblClinVar. | 1 | |
Natural variantiVAR_078589 | 209 | L → P in PSORS2; unknown pathological significance; no effect on NF-kappaB transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_078590 | 216 | A → T in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs574982768Ensembl. | 1 | |
Natural variantiVAR_078591 | 218 | R → C Polymorphism; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs747854314Ensembl. | 1 | |
Natural variantiVAR_068234 | 285 | D → G May be associated with susceptibility to psoriasis. 1 PublicationCorresponds to variant dbSNP:rs281875219EnsemblClinVar. | 1 | |
Natural variantiVAR_078592 | 338 | M → V Polymorphism; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs200132496Ensembl. | 1 | |
Natural variantiVAR_078593 | 350 | L → P1 PublicationCorresponds to variant dbSNP:rs1412261979Ensembl. | 1 | |
Natural variantiVAR_078594 | 357 | L → P1 Publication | 1 | |
Natural variantiVAR_078595 | 420 | T → A in PSORS2; unknown pathological significance; decreases NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs762364495Ensembl. | 1 | |
Natural variantiVAR_024401 | 547 | R → S. Corresponds to variant dbSNP:rs2066964EnsemblClinVar. | 1 | |
Natural variantiVAR_048608 | 585 | V → I. Corresponds to variant dbSNP:rs34367357Ensembl. | 1 | |
Natural variantiVAR_068235 | 593 | I → N1 PublicationCorresponds to variant dbSNP:rs281875220EnsemblClinVar. | 1 | |
Natural variantiVAR_078596 | 602 | S → L in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs201285077EnsemblClinVar. | 1 | |
Natural variantiVAR_078597 | 639 | A → G in PSORS2; unknown pathological significance; does not change NF-kappaB transcription factor activity. 1 Publication | 1 | |
Natural variantiVAR_068236 | 682 | R → W1 PublicationCorresponds to variant dbSNP:rs117918077EnsemblClinVar. | 1 | |
Natural variantiVAR_068237 | 714 | G → S1 PublicationCorresponds to variant dbSNP:rs151150961EnsemblClinVar. | 1 | |
Natural variantiVAR_059196 | 820 | R → W2 PublicationsCorresponds to variant dbSNP:rs11652075EnsemblClinVar. | 1 | |
Natural variantiVAR_022043 | 883 | R → H. Corresponds to variant dbSNP:rs2289541EnsemblClinVar. | 1 | |
Natural variantiVAR_061080 | 962 | R → Q. Corresponds to variant dbSNP:rs34850974EnsemblClinVar. | 1 | |
Natural variantiVAR_068238 | 973 | D → E1 PublicationCorresponds to variant dbSNP:rs144285237EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047400 | 1 – 237 | Missing in isoform 3. 2 PublicationsAdd BLAST | 237 | |
Alternative sequenceiVSP_047401 | 619 – 671 | DYEAS…DLEAK → SRARPLLSPGLLMGTVAAGG VTQADFTSPRRCRSTLGWAS ALSWADVKRSAHL in isoform 3. 2 PublicationsAdd BLAST | 53 | |
Alternative sequenceiVSP_047402 | 672 – 1004 | Missing in isoform 3. 2 PublicationsAdd BLAST | 333 | |
Alternative sequenceiVSP_047403 | 741 – 1004 | Missing in isoform 2. 2 PublicationsAdd BLAST | 264 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF322642 mRNA Translation: AAG53403.1 AY032927 mRNA Translation: AAK54453.1 EU652409 mRNA Translation: ACF49506.1 AC087741 Genomic DNA No translation available. BC018142 mRNA Translation: AAH18142.1 BC001326 mRNA Translation: AAH01326.1 |
CCDSi | CCDS11768.1 [Q9BXL6-1] CCDS58605.1 [Q9BXL6-2] |
RefSeqi | NP_001244899.1, NM_001257970.1 [Q9BXL6-2] NP_077015.2, NM_024110.4 [Q9BXL6-1] NP_438170.1, NM_052819.2 [Q9BXL6-3] XP_011523514.1, XM_011525212.1 XP_011523515.1, XM_011525213.1 [Q9BXL6-1] XP_011523517.1, XM_011525215.1 XP_011523518.1, XM_011525216.1 [Q9BXL6-1] XP_011523519.1, XM_011525217.1 [Q9BXL6-1] XP_011523520.1, XM_011525218.2 [Q9BXL6-1] |
Genome annotation databases
Ensembli | ENST00000344227; ENSP00000344549; ENSG00000141527 [Q9BXL6-1] ENST00000570421; ENSP00000461806; ENSG00000141527 [Q9BXL6-2] ENST00000573882; ENSP00000458715; ENSG00000141527 [Q9BXL6-1] ENST00000648509; ENSP00000498071; ENSG00000141527 [Q9BXL6-1] |
GeneIDi | 79092 |
KEGGi | hsa:79092 |
UCSCi | uc002jxw.3, human [Q9BXL6-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Caspase recruitment domain family, member 14 (CARD14) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF322642 mRNA Translation: AAG53403.1 AY032927 mRNA Translation: AAK54453.1 EU652409 mRNA Translation: ACF49506.1 AC087741 Genomic DNA No translation available. BC018142 mRNA Translation: AAH18142.1 BC001326 mRNA Translation: AAH01326.1 |
CCDSi | CCDS11768.1 [Q9BXL6-1] CCDS58605.1 [Q9BXL6-2] |
RefSeqi | NP_001244899.1, NM_001257970.1 [Q9BXL6-2] NP_077015.2, NM_024110.4 [Q9BXL6-1] NP_438170.1, NM_052819.2 [Q9BXL6-3] XP_011523514.1, XM_011525212.1 XP_011523515.1, XM_011525213.1 [Q9BXL6-1] XP_011523517.1, XM_011525215.1 XP_011523518.1, XM_011525216.1 [Q9BXL6-1] XP_011523519.1, XM_011525217.1 [Q9BXL6-1] XP_011523520.1, XM_011525218.2 [Q9BXL6-1] |
3D structure databases
SMRi | Q9BXL6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122540, 12 interactors |
IntActi | Q9BXL6, 7 interactors |
STRINGi | 9606.ENSP00000458715 |
PTM databases
iPTMneti | Q9BXL6 |
PhosphoSitePlusi | Q9BXL6 |
Polymorphism and mutation databases
BioMutai | CARD14 |
DMDMi | 296434421 |
Proteomic databases
jPOSTi | Q9BXL6 |
MassIVEi | Q9BXL6 |
MaxQBi | Q9BXL6 |
PaxDbi | Q9BXL6 |
PeptideAtlasi | Q9BXL6 |
PRIDEi | Q9BXL6 |
ProteomicsDBi | 7285 79449 [Q9BXL6-1] |
Protocols and materials databases
Antibodypediai | 19763, 188 antibodies |
Genome annotation databases
Ensembli | ENST00000344227; ENSP00000344549; ENSG00000141527 [Q9BXL6-1] ENST00000570421; ENSP00000461806; ENSG00000141527 [Q9BXL6-2] ENST00000573882; ENSP00000458715; ENSG00000141527 [Q9BXL6-1] ENST00000648509; ENSP00000498071; ENSG00000141527 [Q9BXL6-1] |
GeneIDi | 79092 |
KEGGi | hsa:79092 |
UCSCi | uc002jxw.3, human [Q9BXL6-1] |
Organism-specific databases
CTDi | 79092 |
DisGeNETi | 79092 |
EuPathDBi | HostDB:ENSG00000141527.16 |
GeneCardsi | CARD14 |
HGNCi | HGNC:16446, CARD14 |
HPAi | ENSG00000141527, Tissue enhanced (esophagus, skin, tongue) |
MalaCardsi | CARD14 |
MIMi | 173200, phenotype 602723, phenotype 607211, gene |
neXtProti | NX_Q9BXL6 |
OpenTargetsi | ENSG00000141527 |
Orphaneti | 2897, Pityriasis rubra pilaris |
PharmGKBi | PA134959119 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0708, Eukaryota |
GeneTreei | ENSGT00940000160777 |
HOGENOMi | CLU_009760_0_0_1 |
InParanoidi | Q9BXL6 |
OMAi | YTLVRPH |
OrthoDBi | 115953at2759 |
PhylomeDBi | Q9BXL6 |
TreeFami | TF315606 |
Enzyme and pathway databases
PathwayCommonsi | Q9BXL6 |
Miscellaneous databases
BioGRID-ORCSi | 79092, 26 hits in 842 CRISPR screens |
ChiTaRSi | CARD14, human |
GeneWikii | CARD14 |
GenomeRNAii | 79092 |
Pharosi | Q9BXL6, Tbio |
PROi | PR:Q9BXL6 |
RNActi | Q9BXL6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141527, Expressed in ectocervix and 152 other tissues |
ExpressionAtlasi | Q9BXL6, baseline and differential |
Genevisiblei | Q9BXL6, HS |
Family and domain databases
Gene3Di | 2.30.42.10, 1 hit |
InterProi | View protein in InterPro IPR001315, CARD IPR011029, DEATH-like_dom_sf IPR008144, Guanylate_kin-like_dom IPR027417, P-loop_NTPase IPR001478, PDZ IPR036034, PDZ_sf |
Pfami | View protein in Pfam PF00619, CARD, 1 hit |
SUPFAMi | SSF47986, SSF47986, 1 hit SSF50156, SSF50156, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50209, CARD, 1 hit PS50052, GUANYLATE_KINASE_2, 1 hit PS50106, PDZ, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAR14_HUMAN | |
Accessioni | Q9BXL6Primary (citable) accession number: Q9BXL6 Secondary accession number(s): B8QQJ3, Q9BVB5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 31, 2002 |
Last sequence update: | May 18, 2010 | |
Last modified: | December 2, 2020 | |
This is version 170 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- 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 - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations