Human Gene CASP10 (ENST00000286186.11_10) from GENCODE V47lift37
  Description: caspase 10, transcript variant 1 (from RefSeq NM_032977.4)
Gencode Transcript: ENST00000286186.11_10
Gencode Gene: ENSG00000003400.16_15
Transcript (Including UTRs)
   Position: hg19 chr2:202,047,864-202,086,388 Size: 38,525 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr2:202,050,501-202,082,464 Size: 31,964 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:202,047,864-202,086,388)mRNA (may differ from genome)Protein (522 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASPA_HUMAN
DESCRIPTION: RecName: Full=Caspase-10; Short=CASP-10; EC=3.4.22.63; AltName: Full=Apoptotic protease Mch-4; AltName: Full=FAS-associated death domain protein interleukin-1B-converting enzyme 2; Short=FLICE2; AltName: Full=ICE-like apoptotic protease 4; Contains: RecName: Full=Caspase-10 subunit p23/17; Contains: RecName: Full=Caspase-10 subunit p12; Flags: Precursor;
FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase- 3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC.
FUNCTION: Isoform C is proteolytically inactive.
CATALYTIC ACTIVITY: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Leu-Gln-Thr-Asp-|-Gly.
SUBUNIT: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 23/17 kDa (p23/17) (depending on the splicing events) and a 12 kDa (p12) subunit (By similarity). Self-associates. Interacts with FADD and CASP8. Found in a Fas signaling complex consisting of FAS, FADD, CASP8 and CASP10.
INTERACTION: Q14790:CASP8; NbExp=5; IntAct=EBI-495095, EBI-78060; O14730:RIOK3; NbExp=4; IntAct=EBI-495095, EBI-1047061; Q13546:RIPK1; NbExp=2; IntAct=EBI-495095, EBI-358507;
TISSUE SPECIFICITY: Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and colon.
PTM: Cleavage by granzyme B and autocatalytic activity generate the two active subunits.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in CASP10 are the cause of autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]. ALPS2 is characterized by abnormal lymphocyte and dendritic cell homeostasis and immune regulatory defects.
DISEASE: Defects in CASP10 are a cause of familial non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.
DISEASE: Defects in CASP10 are a cause of gastric cancer (GASC) [MIM:613659]. A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.
SIMILARITY: Belongs to the peptidase C14A family.
SIMILARITY: Contains 2 DED (death effector) domains.
WEB RESOURCE: Name=CASP10base; Note=CASP10 mutation db; URL="http://bioinf.uta.fi/CASP10base/";
WEB RESOURCE: Name=Autoimmune Lymphoproliferative Syndrome Database (ALPSbase); Note=Caspase-10 mutations causing ALPS type II; URL="http://research.nhgri.nih.gov/ALPS/alpsII_mut.shtml";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASP10";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/casp10/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CASP10
Diseases sorted by gene-association score: autoimmune lymphoproliferative syndrome, type ii* (1229), lymphoma, non-hodgkin* (1206), gastric cancer, somatic* (601), autoimmune lymphoproliferative syndrome* (242), stomach cancer* (241), casp10-related autoimmune lymphoproliferative syndrome* (200), lymphoproliferative syndrome (30), hodgkin lymphoma (22), autoimmune lymphoproliferative syndrome, type iii (12), aleutian mink disease (11), autoimmune lymphoproliferative syndrome, type iib (9), lymphoma (9), juvenile amyotrophic lateral sclerosis (7), hypersensitivity reaction type iv disease (5)
* = Manually curated disease association

-  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: 12.90 RPKM in Spleen
Total median expression: 118.81 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 -46.00175-0.263 Picture PostScript Text
3' UTR -1311.003924-0.334 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
  InterPro Domains: Graphical view of domain structure
IPR011029 - DEATH-like
IPR001875 - DED
IPR011600 - Pept_C14_cat
IPR001309 - Pept_C14_ICE_p20
IPR016129 - Pept_C14_ICE_p20_AS
IPR002138 - Pept_C14_p10
IPR002398 - Pept_C14_p45
IPR015917 - Pept_C14_p45_core

Pfam Domains:
PF00656 - Caspase domain
PF01335 - Death effector domain

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

ModBase Predicted Comparative 3D Structure on Q92851
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004197 cysteine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0031625 ubiquitin protein ligase binding
GO:0035877 death effector domain binding
GO:0097199 cysteine-type endopeptidase activity involved in apoptotic signaling pathway
GO:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis

Biological Process:
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0007166 cell surface receptor signaling pathway
GO:0042981 regulation of apoptotic process
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0097190 apoptotic signaling pathway
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005829 cytosol
GO:0031265 CD95 death-inducing signaling complex
GO:0097342 ripoptosome


-  Descriptions from all associated GenBank mRNAs
  AK310746 - Homo sapiens cDNA, FLJ17788.
U86214 - Human Fas-associated death domain protein interleukin-1b-converting enzyme 2 mRNA, complete cds.
AK304859 - Homo sapiens cDNA FLJ61090 complete cds, highly similar to Caspase-10 precursor (EC 3.4.22.-).
JD319099 - Sequence 300123 from Patent EP1572962.
AK225475 - Homo sapiens mRNA for Caspase 10 splice variant G variant, clone: HSI15922.
AY690601 - Homo sapiens caspase 10 splice variant G (CASP10) mRNA, complete cds, alternatively spliced.
BC042844 - Homo sapiens caspase 10, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:34063 IMAGE:5176698), complete cds.
U60519 - Human apoptotic cysteine protease Mch4 (Mch4) mRNA, complete cds.
JD216079 - Sequence 197103 from Patent EP1572962.
AJ487678 - Homo sapiens mRNA for caspase 10 (CASP10 gene), splice variant F.
AJ487679 - Homo sapiens mRNA for caspase 10 (CASP10 gene), splice variant E.
AB590650 - Synthetic construct DNA, clone: pFN21AE1960, Homo sapiens CASP10 gene for caspase 10, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.
CU692120 - Synthetic construct Homo sapiens gateway clone IMAGE:100021207 5' read CASP10 mRNA.
JF432405 - Synthetic construct Homo sapiens clone IMAGE:100073607 caspase 10, apoptosis-related cysteine peptidase (CASP10) gene, encodes complete protein.
KJ890830 - Synthetic construct Homo sapiens clone ccsbBroadEn_00224 CASP10 gene, encodes complete protein.
KR711002 - Synthetic construct Homo sapiens clone CCSBHm_00018885 CASP10 (CASP10) mRNA, encodes complete protein.
KR711003 - Synthetic construct Homo sapiens clone CCSBHm_00018887 CASP10 (CASP10) mRNA, encodes complete protein.
KR711004 - Synthetic construct Homo sapiens clone CCSBHm_00018888 CASP10 (CASP10) mRNA, encodes complete protein.
KR711005 - Synthetic construct Homo sapiens clone CCSBHm_00018889 CASP10 (CASP10) mRNA, encodes complete protein.
KU177959 - Homo sapiens caspase 10 apoptosis-related cysteine peptidase isoform 1 (CASP10) mRNA, partial cds.
KU177960 - Homo sapiens caspase 10 apoptosis-related cysteine peptidase isoform 3 (CASP10) mRNA, partial cds.
AF111344 - Homo sapiens caspase-10/c mRNA, complete cds.
AF111345 - Homo sapiens caspase-10/d mRNA, complete cds.
JD448058 - Sequence 429082 from Patent EP1572962.
JD513110 - Sequence 494134 from Patent EP1572962.
JD255016 - Sequence 236040 from Patent EP1572962.
JD098298 - Sequence 79322 from Patent EP1572962.
JD085629 - Sequence 66653 from Patent EP1572962.
JD134098 - Sequence 115122 from Patent EP1572962.
JD546040 - Sequence 527064 from Patent EP1572962.
JD491178 - Sequence 472202 from Patent EP1572962.
JD360726 - Sequence 341750 from Patent EP1572962.
JD158356 - Sequence 139380 from Patent EP1572962.
JD503705 - Sequence 484729 from Patent EP1572962.
JD460405 - Sequence 441429 from Patent EP1572962.
JD257346 - Sequence 238370 from Patent EP1572962.
JD084240 - Sequence 65264 from Patent EP1572962.
JD247140 - Sequence 228164 from Patent EP1572962.
JD407692 - Sequence 388716 from Patent EP1572962.
JD213449 - Sequence 194473 from Patent EP1572962.
JD213450 - Sequence 194474 from Patent EP1572962.
JD368147 - Sequence 349171 from Patent EP1572962.
JD225797 - Sequence 206821 from Patent EP1572962.
JD243420 - Sequence 224444 from Patent EP1572962.
JD448020 - Sequence 429044 from Patent EP1572962.
JD164546 - Sequence 145570 from Patent EP1572962.
JD289822 - Sequence 270846 from Patent EP1572962.
JD058787 - Sequence 39811 from Patent EP1572962.
JD377258 - Sequence 358282 from Patent EP1572962.
JD183775 - Sequence 164799 from Patent EP1572962.
JD509257 - Sequence 490281 from Patent EP1572962.
JD539717 - Sequence 520741 from Patent EP1572962.
JD080974 - Sequence 61998 from Patent EP1572962.
JD098724 - Sequence 79748 from Patent EP1572962.
JD375151 - Sequence 356175 from Patent EP1572962.
JD115691 - Sequence 96715 from Patent EP1572962.
JD130083 - Sequence 111107 from Patent EP1572962.
JD268039 - Sequence 249063 from Patent EP1572962.
JD426597 - Sequence 407621 from Patent EP1572962.
JD544987 - Sequence 526011 from Patent EP1572962.
JD230892 - Sequence 211916 from Patent EP1572962.
JD148322 - Sequence 129346 from Patent EP1572962.
JD249874 - Sequence 230898 from Patent EP1572962.
JD500535 - Sequence 481559 from Patent EP1572962.
JD556415 - Sequence 537439 from Patent EP1572962.
JD522350 - Sequence 503374 from Patent EP1572962.
JD384706 - Sequence 365730 from Patent EP1572962.
JD282840 - Sequence 263864 from Patent EP1572962.
JD259898 - Sequence 240922 from Patent EP1572962.
JD530804 - Sequence 511828 from Patent EP1572962.
JD171514 - Sequence 152538 from Patent EP1572962.
JD047416 - Sequence 28440 from Patent EP1572962.
JD085603 - Sequence 66627 from Patent EP1572962.
JD177509 - Sequence 158533 from Patent EP1572962.
JD096487 - Sequence 77511 from Patent EP1572962.
JD309018 - Sequence 290042 from Patent EP1572962.
JD332643 - Sequence 313667 from Patent EP1572962.
JD449003 - Sequence 430027 from Patent EP1572962.
JD531237 - Sequence 512261 from Patent EP1572962.
JD437536 - Sequence 418560 from Patent EP1572962.
JD050166 - Sequence 31190 from Patent EP1572962.
JD096880 - Sequence 77904 from Patent EP1572962.
JD059759 - Sequence 40783 from Patent EP1572962.
JD518284 - Sequence 499308 from Patent EP1572962.
JD117916 - Sequence 98940 from Patent EP1572962.
JD117917 - Sequence 98941 from Patent EP1572962.
JD560617 - Sequence 541641 from Patent EP1572962.
JD197054 - Sequence 178078 from Patent EP1572962.
JD044813 - Sequence 25837 from Patent EP1572962.
JD342544 - Sequence 323568 from Patent EP1572962.
JD275047 - Sequence 256071 from Patent EP1572962.
JD186445 - Sequence 167469 from Patent EP1572962.
JD477177 - Sequence 458201 from Patent EP1572962.
JD132971 - Sequence 113995 from Patent EP1572962.
DQ587999 - Homo sapiens piRNA piR-55111, complete sequence.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors
h_d4gdiPathway - D4-GDI Signaling Pathway
h_fasPathway - FAS signaling pathway ( CD95 )
h_caspasePathway - Caspase Cascade in Apoptosis

Reactome (by CSHL, EBI, and GO)

Protein Q92851 (Reactome details) participates in the following event(s):

R-HSA-141310 FASL:FAS Receptor Trimer:FADD complex binds procaspase-10
R-HSA-141316 TRAIL:TRAIL-Receptor2 Trimer:FADD complex binds procaspase-10
R-HSA-933532 Processing of caspases
R-HSA-933523 Dimerzation of procaspase-8, procaspase-10
R-HSA-933526 Recruitment of caspase-8 and -10 to FADD complex
R-HSA-933539 Recruitment of IKK complex
R-HSA-75157 FasL/ CD95L signaling
R-HSA-75158 TRAIL signaling
R-HSA-6803207 TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-933543 NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
R-HSA-73887 Death Receptor Signalling
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-162582 Signal Transduction
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-168249 Innate Immune System
R-HSA-212436 Generic Transcription Pathway
R-HSA-168256 Immune System
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CASPA_HUMAN, ENST00000286186.1, ENST00000286186.10, ENST00000286186.2, ENST00000286186.3, ENST00000286186.4, ENST00000286186.5, ENST00000286186.6, ENST00000286186.7, ENST00000286186.8, ENST00000286186.9, MCH4, NM_032977, Q68HC0, Q6KF62, Q6KF63, Q8IUP5, Q8WYQ8, Q92851, Q99845, Q9Y2U6, Q9Y2U7, uc317kjg.1, uc317kjg.2
UCSC ID: ENST00000286186.11_10
RefSeq Accession: NM_032977.4
Protein: Q92851 (aka CASPA_HUMAN or ICEA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CASP10:
alps (Autoimmune Lymphoproliferative Syndrome)

-  Gene Model Information
  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.