Human Gene CFLAR (uc002uxc.4) Description and Page Index
  Description: Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 5, mRNA.
RefSeq Summary (NM_001202516): The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: hg19 chr2:201,980,877-202,037,411 Size: 56,535 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr2:201,994,589-202,028,696 Size: 34,108 Coding Exon Count: 7 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:201,980,877-202,037,411)mRNA (may differ from genome)Protein (445 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CFLAR
CDC HuGE Published Literature: CFLAR

-  MalaCards Disease Associations
  MalaCards Gene Search: CFLAR
Diseases sorted by gene-association score: cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (8), choroid plexus papilloma (7), actinic keratosis (5), juvenile amyotrophic lateral sclerosis (5), alopecia, androgenetic, 1 (4), malignant glioma (4), colorectal cancer (2), prostate cancer (2), lung cancer (2), chronic lymphocytic leukemia (2), lymphoma, non-hodgkin (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.65 RPKM in Whole Blood
Total median expression: 500.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -182.30465-0.392 Picture PostScript Text
3' UTR -2820.238715-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00656 - Caspase domain
PF01335 - Death effector domain

SCOP Domains:
47986 - DEATH domain
52129 - Caspase-like

ModBase Predicted Comparative 3D Structure on O15519-8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK296036 - Homo sapiens cDNA FLJ58399 complete cds, highly similar to CASP8 and FADD-like apoptosis regulator precursor.
AK297387 - Homo sapiens cDNA FLJ56698 complete cds, highly similar to CASP8 and FADD-like apoptosis regulator precursor.
Y14040 - Homo sapiens mRNA for CASH beta protein.
Y14039 - Homo sapiens mRNA for CASH alpha protein.
AF005774 - Homo sapiens caspase-like apoptosis regulatory protein (clarp) mRNA, alternatively spliced, complete cds.
AF009616 - Homo sapiens FLAME-1 mRNA, complete cds.
AF010127 - Homo sapiens Casper mRNA, complete cds.
U97074 - Homo sapiens FLICE-like inhibitory protein long form mRNA, complete cds.
AK315924 - Homo sapiens cDNA, FLJ78823 complete cds, highly similar to CASP8 and FADD-like apoptosis regulator precursor.
BC001602 - Homo sapiens CASP8 and FADD-like apoptosis regulator, mRNA (cDNA clone MGC:2044 IMAGE:3542993), complete cds.
KR422625 - Homo sapiens cell line Caki-2 usurpin-beta splice variant (CFLAR) mRNA, complete cds, alternatively spliced.
AB209600 - Homo sapiens mRNA for CASP8 and FADD-like apoptosis regulator variant protein.
JD073045 - Sequence 54069 from Patent EP1572962.
JD518809 - Sequence 499833 from Patent EP1572962.
DQ596262 - Homo sapiens piRNA piR-34328, complete sequence.
JD361732 - Sequence 342756 from Patent EP1572962.
JD044269 - Sequence 25293 from Patent EP1572962.
JD339107 - Sequence 320131 from Patent EP1572962.
JD336734 - Sequence 317758 from Patent EP1572962.
AF015450 - Homo sapiens Usurpin-alpha mRNA, complete cds.
AK308767 - Homo sapiens cDNA, FLJ98808.
AK289913 - Homo sapiens cDNA FLJ78499 complete cds, highly similar to Homo sapiens CASP8 and FADD-like apoptosis regulator, mRNA.
AK315208 - Homo sapiens cDNA, FLJ96198, highly similar to Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), mRNA.
U97075 - Homo sapiens FLICE-like inhibitory protein short form mRNA, complete cds.
LF206105 - JP 2014500723-A/13608: Polycomb-Associated Non-Coding RNAs.
JD174531 - Sequence 155555 from Patent EP1572962.
JD400195 - Sequence 381219 from Patent EP1572962.
LF351463 - JP 2014500723-A/158966: Polycomb-Associated Non-Coding RNAs.
AF041458 - Homo sapiens I-FLICE mRNA, complete cds.
HM005351 - Homo sapiens clone HTL-T-38 testis secretory sperm-binding protein Li 233m mRNA, complete cds.
AF005775 - Homo sapiens caspase-like apoptosis regulatory protein 2 (clarp) mRNA, alternatively spliced, complete cds.
AF015452 - Homo sapiens Usurpin-gamma mRNA, complete cds.
CU674780 - Synthetic construct Homo sapiens gateway clone IMAGE:100020300 5' read CFLAR mRNA.
AF015451 - Homo sapiens Usurpin-beta mRNA, complete cds.
AF041460 - Homo sapiens I-FLICE isoform 3 mRNA, complete cds.
AB590361 - Synthetic construct DNA, clone: pFN21AE1312, Homo sapiens CFLAR gene for CASP8 and FADD-like apoptosis regulator, without stop codon, in Flexi system.
DQ893760 - Synthetic construct Homo sapiens clone IMAGE:100008220; FLH164286.01L; RZPDo839E09161D CASP8 and FADD-like apoptosis regulator (CFLAR) gene, encodes complete protein.
BT006751 - Homo sapiens CASP8 and FADD-like apoptosis regulator mRNA, complete cds.
DQ890592 - Synthetic construct clone IMAGE:100003222; FLH164290.01X; RZPDo839E09162D CASP8 and FADD-like apoptosis regulator (CFLAR) gene, encodes complete protein.
KJ892636 - Synthetic construct Homo sapiens clone ccsbBroadEn_02030 CFLAR gene, encodes complete protein.
AF009617 - Homo sapiens FLAME-1-beta mRNA, alternatively spliced, complete cds.
AF009618 - Homo sapiens FLAME-1-gamma mRNA, alternatively spliced, complete cds.
AF009619 - Homo sapiens FLAME-1-delta mRNA, alternatively spliced, complete cds.
U85059 - Human protease MRIT-alpha-1 mRNA, complete cds.
AX751991 - Sequence 1 from Patent WO03035868.
AF041461 - Homo sapiens I-FLICE isoform 4 mRNA, complete cds.
LF351462 - JP 2014500723-A/158965: Polycomb-Associated Non-Coding RNAs.
LF351461 - JP 2014500723-A/158964: Polycomb-Associated Non-Coding RNAs.
JD025931 - Sequence 6955 from Patent EP1572962.
JD022408 - Sequence 3432 from Patent EP1572962.
AK304585 - Homo sapiens cDNA FLJ59611 complete cds, highly similar to CASP8 and FADD-like apoptosis regulator precursor.
JD033854 - Sequence 14878 from Patent EP1572962.
AF041462 - Homo sapiens I-FLICE isoform 5 mRNA, complete cds.
JD032568 - Sequence 13592 from Patent EP1572962.
JD030588 - Sequence 11612 from Patent EP1572962.
LF351460 - JP 2014500723-A/158963: Polycomb-Associated Non-Coding RNAs.
AF041459 - Homo sapiens I-FLICE isoform 2 mRNA, complete cds.
AX751993 - Sequence 3 from Patent WO03035868.
CQ967473 - Sequence 15 from Patent EP1486564.
JD084122 - Sequence 65146 from Patent EP1572962.
JD101874 - Sequence 82898 from Patent EP1572962.
JD167622 - Sequence 148646 from Patent EP1572962.
JD481204 - Sequence 462228 from Patent EP1572962.
JD361809 - Sequence 342833 from Patent EP1572962.
JD158876 - Sequence 139900 from Patent EP1572962.
JD266512 - Sequence 247536 from Patent EP1572962.
JD344084 - Sequence 325108 from Patent EP1572962.
JD178710 - Sequence 159734 from Patent EP1572962.
JD300548 - Sequence 281572 from Patent EP1572962.
JD411728 - Sequence 392752 from Patent EP1572962.
JD056621 - Sequence 37645 from Patent EP1572962.
JD137547 - Sequence 118571 from Patent EP1572962.
JD313680 - Sequence 294704 from Patent EP1572962.
JD349074 - Sequence 330098 from Patent EP1572962.
JD380262 - Sequence 361286 from Patent EP1572962.
JD277702 - Sequence 258726 from Patent EP1572962.
JD345682 - Sequence 326706 from Patent EP1572962.
JD225366 - Sequence 206390 from Patent EP1572962.
JD072331 - Sequence 53355 from Patent EP1572962.
JD296881 - Sequence 277905 from Patent EP1572962.
JD311393 - Sequence 292417 from Patent EP1572962.
JD311395 - Sequence 292419 from Patent EP1572962.
JD311394 - Sequence 292418 from Patent EP1572962.
JD527363 - Sequence 508387 from Patent EP1572962.
DQ598355 - Homo sapiens piRNA piR-36421, complete sequence.
JD031260 - Sequence 12284 from Patent EP1572962.
JD085749 - Sequence 66773 from Patent EP1572962.
JD306515 - Sequence 287539 from Patent EP1572962.
JD067605 - Sequence 48629 from Patent EP1572962.
JD067606 - Sequence 48630 from Patent EP1572962.
DQ589339 - Homo sapiens piRNA piR-56451, complete sequence.
DQ577359 - Homo sapiens piRNA piR-45471, complete sequence.
JD211431 - Sequence 192455 from Patent EP1572962.
DQ577392 - Homo sapiens piRNA piR-45504, complete sequence.
JD471987 - Sequence 453011 from Patent EP1572962.
DQ580663 - Homo sapiens piRNA piR-48775, complete sequence.
DQ580661 - Homo sapiens piRNA piR-48773, complete sequence.
DQ580662 - Homo sapiens piRNA piR-48774, complete sequence.
DQ598327 - Homo sapiens piRNA piR-36393, complete sequence.
JD488689 - Sequence 469713 from Patent EP1572962.
JD302268 - Sequence 283292 from Patent EP1572962.
AK125394 - Homo sapiens cDNA FLJ43404 fis, clone OCBBF2017516.
AK124664 - Homo sapiens cDNA FLJ42673 fis, clone BRAMY2028856.
AL365413 - Homo sapiens EST from clone 223524, 5' end.
JD501855 - Sequence 482879 from Patent EP1572962.
MA587040 - JP 2018138019-A/158966: Polycomb-Associated Non-Coding RNAs.
MA587039 - JP 2018138019-A/158965: Polycomb-Associated Non-Coding RNAs.
MA587038 - JP 2018138019-A/158964: Polycomb-Associated Non-Coding RNAs.
MA587037 - JP 2018138019-A/158963: Polycomb-Associated Non-Coding RNAs.
MA441682 - JP 2018138019-A/13608: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04210 - Apoptosis
hsa05142 - Chagas disease

BioCarta from NCI Cancer Genome Anatomy Project
h_fasPathway - FAS signaling pathway ( CD95 )
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation

Reactome (by CSHL, EBI, and GO)

Protein O15519 (Reactome details) participates in the following event(s):

R-HSA-3465429 FLIP(S) and procaspase-8 form heterodimer
R-HSA-5218900 CASP8 activity is inhibited
R-HSA-5675482 Regulation of necroptotic cell death
R-HSA-5213460 RIPK1-mediated regulated necrosis
R-HSA-5218859 Regulated Necrosis
R-HSA-5357801 Programmed Cell Death
R-HSA-3371359 FLIP(L) and procaspase-8 form heterodimer in TRAIL signaling
R-HSA-3371360 FLIP(L) and procaspase-8 form heterodimer in TNF signaling
R-HSA-3465459 FLIP(L) and procaspase-8 form heterodimer in FasL/CD95 signaling
R-HSA-5675456 FLIP(L) and procaspase-8 form heterodimer
R-HSA-3371378 Regulation by c-FLIP
R-HSA-5218900 CASP8 activity is inhibited
R-HSA-140534 Ligand-dependent caspase activation
R-HSA-5675482 Regulation of necroptotic cell death
R-HSA-5357769 Caspase activation via extrinsic apoptotic signalling pathway
R-HSA-5213460 RIPK1-mediated regulated necrosis
R-HSA-109581 Apoptosis
R-HSA-5218859 Regulated Necrosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: CASH, CASP8AP1, CLARP, MRIT, NM_001202516, NP_001189444, O15519-8
UCSC ID: uc002uxc.4
RefSeq Accession: NM_001202516
Protein: O15519-8, splice isoform of O15519 CCDS: CCDS56157.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001202516.1
exon count: 8CDS single in 3' UTR: no RNA size: 10535
ORF size: 1338CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2782.00frame shift in genome: no % Coverage: 99.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.