RBCC Red Blood Cell Collection

CASP8_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CASP8 , MCH5
Protein names and data: CASP8_HUMAN , Caspase-8; CASP-8; 3.4.22.61 , Apoptotic cysteine protease; Apoptotic protease Mch-5; CAP4; FADD-homologous ICE/ced-3-like protease; FADD-like ICE; FLICE; ICE-like apoptotic protease 5; MORT1-associated ced-3 homolog; MACH; Caspase-8 subunit p18; Caspase-8 subunit p10; Flags: Precursor Lenght: 479 a.a.
Mass: 55391 Da
fasta formatted sequence
Function: Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resulting aggregate called death- inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. May participate in the GZMB apoptotic pathways. Cleaves ADPRT. Hydrolyzes the small-molecule substrate, Ac-Asp-Glu-Val-Asp-|-AMC. Likely target for the cowpox virus CRMA death inhibitory protein. Isoform 5, isoform 6, isoform 7 and isoform 8 lack the catalytic site and may interfere with the pro-apoptotic activity of the complex.
Catalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of (Leu/Asp/Val)-Glu-Thr-Asp-|- (Gly/Ser/Ala).
Disease: ( OMIM: 211980 601763 607271 ) Caspase-8 deficiency (CASP8D) [MIM:607271]: Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.
Tissue specificity: Isoform 1, isoform 5 and isoform 7 are expressed in a wide variety of tissues. Highest expression in peripheral blood leukocytes, spleen, thymus and liver. Barely detectable in brain, testis and skeletal muscle.

Genetic variants

Genetic variations in CASP8 are associated with reduced risk of lung cancer [MIM:211980] in a population of Han Chinese subjects. Genetic variations are also associated with decreased risk of cancer of various other forms including esophageal, gastric, colorectal, cervical, and breast, acting in an allele dose-dependent manner.

219 - 219 S -> T (in dbSNP:rs35976359). VAR_025816 35976359
248 - 248 R -> W (in CASP8D; dbSNP:rs17860424). VAR_014204 17860424
285 - 285 D -> H (associated with protection against breast cancer; also associated with a lower risk of cutaneous melanoma; dbSNP:rs1045485). VAR_020127 1045485

Database cross-references

UniProt: Q14790
Ensembl: ENST00000264274
Ensembl: ENST00000264275
Ensembl: ENST00000323492
Ensembl: ENST00000358485
Ensembl: ENST00000392258
Ensembl: ENST00000392259
Ensembl: ENST00000392263
Ensembl: ENST00000392266
Ensembl: ENST00000432109
MIM: 211980
MIM: 601763
MIM: 607271
neXtProt: NX_Q14790
Antibodypedia: Q14790 (may not find the protein thus also not any antibody)
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