Human Gene CASP14 (ENST00000427043.4_4) from GENCODE V47lift37
  Description: caspase 14 (from RefSeq NM_012114.3)
Gencode Transcript: ENST00000427043.4_4
Gencode Gene: ENSG00000105141.6_8
Transcript (Including UTRs)
   Position: hg19 chr19:15,160,291-15,169,104 Size: 8,814 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr19:15,163,063-15,166,900 Size: 3,838 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:15,160,291-15,169,104)mRNA (may differ from genome)Protein (242 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CASPE_HUMAN
DESCRIPTION: RecName: Full=Caspase-14; Short=CASP-14; EC=3.4.22.-; Contains: RecName: Full=Caspase-14 subunit p19; Contains: RecName: Full=Caspase-14 subunit p10; Flags: Precursor;
FUNCTION: Believed to be a non-apoptotic caspase which is involved in epidermal differentiation. Seems to play a role in keratinocyte differentiation and cornification. Probably regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity).
SUBUNIT: Complex of unprocessed caspase-14 and processed 19 kDa (p19) and 10 kDa (p10) subunits.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
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.
INDUCTION: In undifferentiated keratinocytes under postconfluency growth conditions (in vitro).
SIMILARITY: Belongs to the peptidase C14A family.

-  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: CASP14
Diseases sorted by gene-association score: ichthyosis, congenital, autosomal recessive 12* (919), diabetes mellitus, insulin-dependent, 17 (11), diabetic macular edema (8), vulva squamous cell carcinoma (5), autosomal recessive congenital ichthyosis (5), congenital ichthyosiform erythroderma (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: 285.37 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 539.01 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.60212-0.319 Picture PostScript Text
3' UTR -567.802204-0.258 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
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

SCOP Domains:
81273 - H-NS histone-like proteins
52129 - Caspase-like
55729 - Acyl-CoA N-acyltransferases (Nat)

ModBase Predicted Comparative 3D Structure on P31944
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
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:0097200 cysteine-type endopeptidase activity involved in execution phase of apoptosis

Biological Process:
GO:0006508 proteolysis
GO:0008544 epidermis development
GO:0030154 cell differentiation
GO:0031424 keratinization
GO:0070268 cornification
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0045095 keratin filament


-  Descriptions from all associated GenBank mRNAs
  EU502748 - Homo sapiens caspase-14 (CASP14) mRNA, complete cds.
AK313992 - Homo sapiens cDNA, FLJ94644, Homo sapiens caspase 14, apoptosis-related cysteine protease(CASP14), mRNA.
AF097874 - Homo sapiens caspase 14 precursor (CASP14) mRNA, complete cds.
BC069541 - Homo sapiens caspase 14, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:97029 IMAGE:7262238), complete cds.
BC103868 - Homo sapiens caspase 14, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:119078 IMAGE:40003517), complete cds.
BC103869 - Homo sapiens caspase 14, apoptosis-related cysteine peptidase, mRNA (cDNA clone MGC:119079 IMAGE:40003519), complete cds.
EU262664 - Homo sapiens caspase 14 precursor (CASP14) mRNA, complete cds.
CU686902 - Synthetic construct Homo sapiens gateway clone IMAGE:100022552 5' read CASP14 mRNA.
AB590874 - Synthetic construct DNA, clone: pFN21AE1735, Homo sapiens CASP14 gene for caspase 14, apoptosis-related cysteine peptidase, without stop codon, in Flexi system.
HQ448424 - Synthetic construct Homo sapiens clone IMAGE:100071852; CCSB013879_01 caspase 14, apoptosis-related cysteine peptidase (CASP14) gene, encodes complete protein.
KJ893407 - Synthetic construct Homo sapiens clone ccsbBroadEn_02801 CASP14 gene, encodes complete protein.
JD284123 - Sequence 265147 from Patent EP1572962.
JD564358 - Sequence 545382 from Patent EP1572962.
JD441396 - Sequence 422420 from Patent EP1572962.
JD286738 - Sequence 267762 from Patent EP1572962.
JD043128 - Sequence 24152 from Patent EP1572962.
JD043129 - Sequence 24153 from Patent EP1572962.
JD240819 - Sequence 221843 from Patent EP1572962.
JD425286 - Sequence 406310 from Patent EP1572962.
JD425289 - Sequence 406313 from Patent EP1572962.
JD425290 - Sequence 406314 from Patent EP1572962.
JD526981 - Sequence 508005 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P31944 (Reactome details) participates in the following event(s):

R-HSA-6814387 CASP14 cleaves filaggrin
R-HSA-8934819 Cytoplasmic proteases cleave Profilaggrin producing Filaggrin
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: CASPE_HUMAN, ENST00000427043.1, ENST00000427043.2, ENST00000427043.3, NM_012114, O95823, P31944, Q3SYC9, uc319wct.1, uc319wct.2
UCSC ID: ENST00000427043.4_4
RefSeq Accession: NM_012114.3
Protein: P31944 (aka CASPE_HUMAN or ICEE_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CASP14:
li-ar (Autosomal Recessive Congenital Ichthyosis)

-  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.