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Aliases for CASP14 Gene

Aliases for CASP14 Gene

  • Caspase 14 2 3 5
  • Caspase 14, Apoptosis-Related Cysteine Peptidase 2 3
  • Caspase 14, Apoptosis-Related Cysteine Protease 2 3
  • Apoptosis-Related Cysteine Protease 2 3
  • CASP-14 3 4
  • EC 3.4.22.- 4

External Ids for CASP14 Gene

Previous GeneCards Identifiers for CASP14 Gene

  • GC19P015542
  • GC19P015008
  • GC19P015024
  • GC19P015160
  • GC19P014730

Summaries for CASP14 Gene

Entrez Gene Summary for CASP14 Gene

  • This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]

GeneCards Summary for CASP14 Gene

CASP14 (Caspase 14) is a Protein Coding gene. Diseases associated with CASP14 include childhood leukemia. Among its related pathways are p53 Signaling and EGFR Signaling Pathway. GO annotations related to this gene include cysteine-type endopeptidase activity and cysteine-type endopeptidase activity involved in apoptotic signaling pathway. An important paralog of this gene is CASP1.

UniProtKB/Swiss-Prot for CASP14 Gene

  • Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736).

Tocris Summary for CASP14 Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for CASP14 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP14 Gene

Genomics for CASP14 Gene

Regulatory Elements for CASP14 Gene

Genomic Location for CASP14 Gene

Chromosome:
19
Start:
15,049,384 bp from pter
End:
15,058,293 bp from pter
Size:
8,910 bases
Orientation:
Plus strand

Genomic View for CASP14 Gene

Genes around CASP14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASP14 Gene

Proteins for CASP14 Gene

  • Protein details for CASP14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31944-CASPE_HUMAN
    Recommended name:
    Caspase-14
    Protein Accession:
    P31944
    Secondary Accessions:
    • O95823
    • Q3SYC9

    Protein attributes for CASP14 Gene

    Size:
    242 amino acids
    Molecular mass:
    27680 Da
    Quaternary structure:
    • Heterodimer of a large and a small subunit, both processed from the precursor; the mature active form is a p17/p10 dimer and the intermediate form a p20/p8 dimer.
    Miscellaneous:
    • Expressed in bacteria requires high concentrations of kosmotropic salts to be activated (PubMed:15301553). The mature and the intermediate form differ in activity towards synthetic caspase substrates: the p17/p10 mature form but not the p20/p8 intermediate form is active on WEHD-MCA; p20/p8 is active on a number of other caspase substrates without any marked preference (VEID-AFC, DEVD-AFC, LEVD-AFC and LEHD-AFC) (PubMed:22825846).

neXtProt entry for CASP14 Gene

Proteomics data for CASP14 Gene at MOPED

Post-translational modifications for CASP14 Gene

  • Maturation by proteolytic processing appears to be a two-step process. The precursor is processed by KLK7 to yield the p20/p8 intermediate form which acts on the precursor to yield the p17/p10 mature form (PubMed:22825846). Initially, cleavage between Ile-152 and Lys-153 has been proposed to yield the large and small subunits of the active enzyme (PubMed:12200134).

Other Protein References for CASP14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CASP14 (CASP14)

No data available for DME Specific Peptides for CASP14 Gene

Domains & Families for CASP14 Gene

Gene Families for CASP14 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P31944

UniProtKB/Swiss-Prot:

CASPE_HUMAN :
  • Belongs to the peptidase C14A family.
Family:
  • Belongs to the peptidase C14A family.
genes like me logo Genes that share domains with CASP14: view

Function for CASP14 Gene

Molecular function for CASP14 Gene

GENATLAS Biochemistry:
caspase 14,cysteine containing aspartate-specific protease,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,promoting apoptosis,homolog to murine CASP14 expressed in embryo and in adult skin
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by caspase-1 inhibitor YVAD-FMK and the pan-caspase inhibitor VAD-FMK.
UniProtKB/Swiss-Prot Function:
Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736).
UniProtKB/Swiss-Prot Induction:
In undifferentiated keratinocytes under postconfluency growth conditions (in vitro) (PubMed:11175259). By high glucose in retinal pigment epithelia cells (PubMed:25121097).

Enzyme Numbers (IUBMB) for CASP14 Gene

Gene Ontology (GO) - Molecular Function for CASP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097153 cysteine-type endopeptidase activity involved in apoptotic process IBA --
genes like me logo Genes that share ontologies with CASP14: view
genes like me logo Genes that share phenotypes with CASP14: view

Animal Models for CASP14 Gene

MGI Knock Outs for CASP14:

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP14

miRNA for CASP14 Gene

miRTarBase miRNAs that target CASP14

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CASP14 Gene

Localization for CASP14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP14 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CASP14 Gene COMPARTMENTS Subcellular localization image for CASP14 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CASP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23377137
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with CASP14: view

Pathways & Interactions for CASP14 Gene

genes like me logo Genes that share pathways with CASP14: view

Pathways by source for CASP14 Gene

3 Sino Biological pathways for CASP14 Gene
1 GeneTex pathway for CASP14 Gene

Interacting Proteins for CASP14 Gene

Selected Interacting proteins: P31944-CASPE_HUMAN for CASP14 Gene via I2D UniProtKB

Gene Ontology (GO) - Biological Process for CASP14 Gene

None

No data available for SIGNOR curated interactions for CASP14 Gene

Drugs & Compounds for CASP14 Gene

(6) Drugs for CASP14 Gene - From: ApexBio, Novoseek, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable 0
Boc-D-FMK Pharma Pan-caspase inhibitor 0
PAC-1 Pharma Procaspase-3 activator 0
MDL 28170 Pharma Calpain and cathepsin B inhibitor, selective, Potent, selective calpain and cathepsin B inhibitor 0

(8) Additional Compounds for CASP14 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calpeptin
117591-20-5
MG 132
133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1
PD 150606
179528-45-1

(5) Tocris Compounds for CASP14 Gene

Compound Action Cas Number
Calpeptin Calpain and cathepsin L inhibitor 117591-20-5
MDL 28170 Potent, selective calpain and cathepsin B inhibitor 88191-84-8
MG 132 Proteasome and calpain inhibitor. Inhibits NF-kappaB activation 133407-82-6
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
PD 150606 Cell permeable calpain inhibitor 179528-45-1

(3) ApexBio Compounds for CASP14 Gene

Compound Action Cas Number
Apoptosis Activator 2 Indoledione caspase activator, cell-permeable 79183-19-0
Boc-D-FMK Pan-caspase inhibitor 187389-53-3, 634911-80-1
PAC-1 Procaspase-3 activator 315183-21-2
genes like me logo Genes that share compounds with CASP14: view

Transcripts for CASP14 Gene

mRNA/cDNA for CASP14 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASP14 Gene

Caspase 14, apoptosis-related cysteine peptidase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CASP14 Gene

No ASD Table

Relevant External Links for CASP14 Gene

GeneLoc Exon Structure for
CASP14
ECgene alternative splicing isoforms for
CASP14

Expression for CASP14 Gene

mRNA expression in normal human tissues for CASP14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASP14 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x28.0) and Skin - Not Sun Exposed (Suprapubic) (x23.3).

Protein differential expression in normal tissues from HIPED for CASP14 Gene

This gene is overexpressed in Skin (19.0), Hair follicle (14.3), and Oral epithelium (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CASP14 Gene



SOURCE GeneReport for Unigene cluster for CASP14 Gene Hs.466057

mRNA Expression by UniProt/SwissProt for CASP14 Gene

P31944-CASPE_HUMAN
Tissue specificity: Expressed in keratinocytes of adult skin suprabasal layers (from spinous layers to the stratum granulosum and stratum corneum) (at protein level). Expressed in keratinocytes of hair shaft and sebaceous glands (at protein level). In psoriatic skin only expressed at very low levels (PubMed:11175259). The p17/10 mature form is expressed in epidermis stratum corneum, the p20/p8 intermediate form in epidermis upper granular cells of the stratum granulosum (PubMed:22825846).
genes like me logo Genes that share expression patterns with CASP14: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CASP14 Gene

Orthologs for CASP14 Gene

This gene was present in the common ancestor of animals.

Orthologs for CASP14 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CASP14 35
  • 82.23 (n)
  • 80.58 (a)
CASP14 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CASP14 35
  • 83.47 (n)
  • 85.54 (a)
CASP14 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Casp14 35
  • 78.84 (n)
  • 75.1 (a)
Casp14 16
Casp14 36
  • 70 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CASP14 35
  • 98.76 (n)
  • 98.35 (a)
CASP14 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Casp14 35
  • 76.94 (n)
  • 72.5 (a)
oppossum
(Monodelphis domestica)
Mammalia CASP14 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CASP17 36
  • 17 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 33 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii caspa 36
  • 18 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Dredd 36
  • 10 (a)
ManyToMany
Nc 36
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea csp-3 36
  • 17 (a)
ManyToMany
Species with no ortholog for CASP14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CASP14 Gene

ENSEMBL:
Gene Tree for CASP14 (if available)
TreeFam:
Gene Tree for CASP14 (if available)

Paralogs for CASP14 Gene

Paralogs for CASP14 Gene

(3) SIMAP similar genes for CASP14 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CASP14: view

Variants for CASP14 Gene

Sequence variations from dbSNP and Humsavar for CASP14 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs717309 -- 15,055,867(-) GCCTC(C/T)TCCTA intron-variant
rs717310 -- 15,055,757(-) TATAT(C/G)CAAGG intron-variant
rs2283602 -- 15,052,890(+) AGCTG(C/G)ACCCC intron-variant
rs2158467 -- 15,051,944(+) GGGGG(C/T)GGAGT intron-variant
rs2158468 -- 15,051,947(+) GGCGG(A/G)GTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP14 Gene

Variant ID Type Subtype PubMed ID
dgv1058e1 CNV Complex 17122850

Variation tolerance for CASP14 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASP14 Gene

HapMap Linkage Disequilibrium report
CASP14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASP14 Gene

Disorders for CASP14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CASP14 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
childhood leukemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CASP14

Genetic Association Database (GAD)
CASP14
Human Genome Epidemiology (HuGE) Navigator
CASP14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP14
genes like me logo Genes that share disorders with CASP14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CASP14 Gene

Publications for CASP14 Gene

  1. Activation and substrate specificity of caspase-14. (PMID: 15301553) Mikolajczyk J. … Salvesen G.S. (Biochemistry 2004) 2 3 4 23 67
  2. Caspase-14 is a novel developmentally regulated protease. (PMID: 9792675) Hu S. … Dixit V.M. (J. Biol. Chem. 1998) 2 3 23
  3. Identification of a new caspase homologue: caspase-14. (PMID: 10203698) Van de Craen M. … Vandenabeele P. (Cell Death Differ. 1998) 2 3 23
  4. Purification and characterization of active caspase-14 from human epidermis and development of the cleavage site-directed antibody. (PMID: 19960512) Hibino T. … Momoi T. (J. Cell. Biochem. 2010) 3 23
  5. Function of caspase-14 in trophoblast differentiation. (PMID: 19747408) White L.J. … Dharmarajan A.M. (Reprod. Biol. Endocrinol. 2009) 3 23

Products for CASP14 Gene

Sources for CASP14 Gene

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