• Gene id: 8837

Gene Summary

• Gene Symbol: CFLAR   Gene   UCSC   Ensembl
• Aliases: CASH, CASP8AP1, CLARP, Casper, FLAME, FLAME-1, FLAME1, FLIP, I-FLICE, MRIT, c-FLIP, c-FLIPL, c-FLIPR, c-FLIPS, cFLIP
• Gene name: CASP8 and FADD like apoptosis regulator
• Alternate names: CASP8 and FADD-like apoptosis regulator, FADD-like antiapoptotic molecule 1, MACH-related inducer of toxicity, caspase homolog, caspase-eight-related protein, caspase-like apoptosis regulatory protein, caspase-related inducer of apoptosis, cellular FLICE-like in,
• Gene location: 2q33.1 (201116103: 201176686)     Exons: 15     NC_000002.12
• Gene summary(Entrez): 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 encodin
• OMIM: 603599

Protein Summary

• Protein general information: O15519  
  • Name: CASP8 and FADD like apoptosis regulator (Caspase homolog) (CASH) (Caspase eight related protein) (Casper) (Caspase like apoptosis regulatory protein) (CLARP) (Cellular FLICE like inhibitory protein) (c FLIP) (FADD like antiapoptotic molecule 1) (FLAME 1)
  • Length: 480  
  • Mass: 55344
  • Tissue specificity: Widely expressed. Higher expression in skeletal muscle, pancreas, heart, kidney, placenta, and peripheral blood leukocytes. Also detected in diverse cell lines. Isoform 8 is predominantly expressed in testis and skeletal muscle.
• Sequence:

  MSAEVIHQVEEALDTDEKEMLLFLCRDVAIDVVPPNVRDLLDILRERGKLSVGDLAELLYRVRRFDLLKRILKMD
  RKAVETHLLRNPHLVSDYRVLMAEIGEDLDKSDVSSLIFLMKDYMGRGKISKEKSFLDLVVELEKLNLVAPDQLD
  LLEKCLKNIHRIDLKTKIQKYKQSVQGAGTSYRNVLQAAIQKSLKDPSNNFRLHNGRSKEQRLKEQLGAQQEPVK
  KSIQESEAFLPQSIPEERYKMKSKPLGICLIIDCIGNETELLRDTFTSLGYEVQKFLHLSMHGISQILGQFACMP
  EHRDYDSFVCVLVSRGGSQSVYGVDQTHSGLPLHHIRRMFMGDSCPYLAGKPKMFFIQNYVVSEGQLEDSSLLEV
  DGPAMKNVEFKAQKRGLCTVHREADFFWSLCTADMSLLEQSHSSPSLYLQCLSQKLRQERKRPLLDLHIELNGYM
  YDWNSRVSAKEKYYVWLQHTLRKKLILSYT

• Structural information:
  • Protein Domains: (1..7-)
    (/note="DED-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00065-)
    (92..17-)
    (/note="DED-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00065"-)
  • Interpro: IPR029030  IPR011029  IPR001875  IPR002398  IPR001309   IPR015917  
  • Prosite: PS50208 PS50168
  • CDD: cd00032
  • PDB: 2N5R 3H11 3H13
  • PDBsum: 2N5R 3H11 3H13
  • DIP: 27629
  • STRING: ENSP00000312455
• Other Databases: GeneCards:  CFLAR  Malacards:  CFLAR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0097199	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IBA	molecular function
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006915	apoptotic process	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:1902041	regulation of extrinsic apoptotic signaling pathway via death domain receptors	TAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	TAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000347	positive regulation of hepatocyte proliferation	IEA	biological process
GO:1903944	negative regulation of hepatocyte apoptotic process	IEA	biological process
GO:1903427	negative regulation of reactive oxygen species biosynthetic process	IEA	biological process
GO:1903055	positive regulation of extracellular matrix organization	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0005123	death receptor binding	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0014732	skeletal muscle atrophy	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0060546	negative regulation of necroptotic process	IEA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0016504	peptidase activator activity	IEA	molecular function
GO:1904036	negative regulation of epithelial cell apoptotic process	IEA	biological process
GO:1903845	negative regulation of cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0072126	positive regulation of glomerular mesangial cell proliferation	IEA	biological process
GO:0071732	cellular response to nitric oxide	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0071364	cellular response to epidermal growth factor stimulus	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0031265	CD95 death-inducing signaling complex	IEA	cellular component
GO:0031264	death-inducing signaling complex	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0002020	protease binding	IEA	molecular function
GO:0014866	skeletal myofibril assembly	IEA	biological process
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:1901740	negative regulation of myoblast fusion	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0014732	skeletal muscle atrophy	ISS	biological process
GO:0043403	skeletal muscle tissue regeneration	ISS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	ISS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0014842	regulation of skeletal muscle satellite cell proliferation	ISS	biological process
GO:0014866	skeletal myofibril assembly	ISS	biological process
GO:1901740	negative regulation of myoblast fusion	ISS	biological process
GO:0042060	wound healing	ISS	biological process
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0060544	regulation of necroptotic process	IDA	biological process
GO:0031264	death-inducing signaling complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0097342	ripoptosome	IDA	cellular component
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal
hsa04217	Necroptosis
hsa05160	Hepatitis C
hsa04210	Apoptosis
hsa04668	TNF signaling pathway
hsa04064	NF-kappa B signaling pathway
hsa05142	Chagas disease

Diseases

Associated diseases	References
Idiopathic pulmonary fibrosis	PMID:22582174
Myelodysplastic syndrome	PMID:14562111
congestive heart failure	PMID:11033112
acute myeloid leukemia	PMID:23167276
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq