This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevat... See more...

Aliases for CTSE Gene

Aliases for CTSE Gene

  • Cathepsin E 2 3 4 5
  • EC 3.4.23.34 4 54
  • Erythrocyte Membrane Aspartic Proteinase 3
  • Slow-Moving Proteinase 3
  • EC 3.4.23 54
  • CATE 3

External Ids for CTSE Gene

Previous GeneCards Identifiers for CTSE Gene

  • GC01U990032
  • GC01P202860
  • GC01P204484
  • GC01P206319
  • GC01P177247

Summaries for CTSE Gene

Entrez Gene Summary for CTSE Gene

  • This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSE Gene

CTSE (Cathepsin E) is a Protein Coding gene. Diseases associated with CTSE include Gastric Adenocarcinoma and Rosai-Dorfman Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Lysosome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aspartic-type endopeptidase activity. An important paralog of this gene is PGA3.

UniProtKB/Swiss-Prot Summary for CTSE Gene

  • May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain.

Gene Wiki entry for CTSE Gene

Additional gene information for CTSE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSE Gene

Genomics for CTSE Gene

GeneHancer (GH) Regulatory Elements for CTSE Gene

Promoters and enhancers for CTSE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J206020 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 750.6 +1.5 1462 4.1 TEAD4 CBFA2T2 RXRA ZNF395 JUN TCF12 HNF4A TAL1 HNF4G CBFA2T3 CTSE PM20D1 lnc-RAB7B-2
GH01J206025 Enhancer 0.2 Ensembl 750.6 -1.4 -1392 0.6 CTSE piR-30853-006
GH01J206046 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -26.8 -26832 8.5 ZNF24 SP1 LCORL RBPJ MIXL1 ZNF362 MYC NFYC ETV6 RELA RHEX ELK4 EIF2D RBBP5 ENSG00000252692 ENSG00000234981 CTSE AVPR1B ENSG00000226780 SLC26A9
GH01J206078 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -57.1 -57092 6 FOXA1 MYC HLF MAX ZNF121 SP1 CEBPA RXRA FOXA2 PKNOX1 RHEX ENSG00000252692 CTSE piR-52475-002 AVPR1B
GH01J206076 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 -51.8 -51792 3 SMARCE1 CC2D1A HLF L3MBTL2 MAX TEAD4 ZKSCAN8 CBFA2T2 SMARCA4 ZNF639 CTSE LOC105372857 piR-52475-002 RHEX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTSE gene promoter:
  • Cdc5
  • Evi-1
  • Ik-2
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Zic3

Genomic Locations for CTSE Gene

Genomic Locations for CTSE Gene
chr1:206,009,264-206,023,909
(GRCh38/hg38)
Size:
14,646 bases
Orientation:
Minus strand
chr1:206,317,459-206,332,104
(GRCh37/hg19)
Size:
14,646 bases
Orientation:
Plus strand

Genomic View for CTSE Gene

Genes around CTSE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTSE Gene

Proteins for CTSE Gene

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

    Protein Symbol:
    P14091-CATE_HUMAN
    Recommended name:
    Cathepsin E
    Protein Accession:
    P14091
    Secondary Accessions:
    • Q5TZ01
    • Q5TZ02
    • Q9NY58
    • Q9UCE3
    • Q9UCE4

    Protein attributes for CTSE Gene

    Size:
    396 amino acids
    Molecular mass:
    42794 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for CTSE Gene

    Alternative splice isoforms for CTSE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTSE Gene

Selected DME Specific Peptides for CTSE Gene

P14091:
  • GGVTPVFD
  • GTSLITGP
  • DTGSSNLW
  • FTVIFDT
  • WILGDVF
  • GGVTPVFDNMMAQNLV
  • GIIGADQVS
  • LPMFSVY
  • GSLNWVPV
  • AIVDTGTSL
  • LWVPSVYC

Post-translational modifications for CTSE Gene

  • Glycosylated. The nature of the carbohydrate chain varies between cell types. In fibroblasts, the proenzyme contains a high mannose-type oligosaccharide, while the mature enzyme contains a complex-type oligosaccharide. In erythrocyte membranes, both the proenzyme and mature enzyme contain a complex-type oligosaccharide.
  • Two forms are produced by autocatalytic cleavage, form I begins at Ile-54, form II begins at Thr-57.
  • Glycosylation at Asn90
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSE Gene

Antibody Products

  • Boster Bio Antibodies for CTSE

Domains & Families for CTSE Gene

Gene Families for CTSE Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60742, highly similar to Homo sapiens cathepsin E (CTSE), transcript variant 2, mRNA (B4DNU8_HUMAN)
  • Cathepsin E (CATE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14091

UniProtKB/Swiss-Prot:

CATE_HUMAN :
  • Belongs to the peptidase A1 family.
Family:
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with CTSE: view

Function for CTSE Gene

Molecular function for CTSE Gene

UniProtKB/Swiss-Prot Function:
May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Similar to cathepsin D, but slightly broader specificity.; EC=3.4.23.34; Evidence={ECO:0000269 PubMed:7789521, ECO:0000269 PubMed:8765029};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.06 mM for hemoglobin {ECO:0000269 PubMed:8346912}; KM=0.13 mM for Pro-Pro-Thr-Ile-Phe-Phe(4-NO2)-Arg-Leu {ECO:0000269 PubMed:8346912}; KM=0.04 mM for Lys-Pro-Ile-Glu-Phe-Phe(4-NO2)-Arg-Leu {ECO:0000269 PubMed:8346912};
GENATLAS Biochemistry:
cathepsin E,aspartic proteinase

Enzyme Numbers (IUBMB) for CTSE Gene

Gene Ontology (GO) - Molecular Function for CTSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IDA 7789521
GO:0008233 peptidase activity IDA 16997486
GO:0016787 hydrolase activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CTSE: view
genes like me logo Genes that share phenotypes with CTSE: view

Animal Models for CTSE Gene

MGI Knock Outs for CTSE:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSE

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTSE Gene

Localization for CTSE Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSE Gene

Endosome. Note=The proenzyme is localized to the endoplasmic reticulum and Golgi apparatus, while the mature enzyme is localized to the endosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSE gene
Compartment Confidence
endosome 5
lysosome 3
extracellular 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CTSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA,IBA 7983070
genes like me logo Genes that share ontologies with CTSE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTSE Gene

Pathways & Interactions for CTSE Gene

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

Pathways by source for CTSE Gene

1 KEGG pathway for CTSE Gene
1 GeneTex pathway for CTSE Gene

Gene Ontology (GO) - Biological Process for CTSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 16997486
GO:0016540 protein autoprocessing IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II IDA 8765029
GO:0030163 protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with CTSE: view

No data available for SIGNOR curated interactions for CTSE Gene

Drugs & Compounds for CTSE Gene

(6) Drugs for CTSE Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(2S)-N-[(2S,3R)-1-CYCLOHEXYL-4,4-DIFLUORO-3-HYDROXY-4-{[(2S)-2-METHYLBUTYL]CARBAMOYL}BUTAN-2-YL]-2-[(2S)-2-[(MORPHOLINE-4-SULFONYL)AMINO]-3-PHENYLPROPANAMIDO]PENT-4-ENAMIDE Pharma 0

(1) Additional Compounds for CTSE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTSE: view

Transcripts for CTSE Gene

mRNA/cDNA for CTSE Gene

CRISPR Products

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for CTSE Gene

GeneLoc Exon Structure for
CTSE
ECgene alternative splicing isoforms for
CTSE

Expression for CTSE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTSE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Stomach (x41.1) and Lung (x6.0).

Protein differential expression in normal tissues from HIPED for CTSE Gene

This gene is overexpressed in Stomach (42.8), Cardia (17.1), and Lung (6.9).

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



NURSA nuclear receptor signaling pathways regulating expression of CTSE Gene:

CTSE

SOURCE GeneReport for Unigene cluster for CTSE Gene:

Hs.644082

mRNA Expression by UniProt/SwissProt for CTSE Gene:

P14091-CATE_HUMAN
Tissue specificity: Expressed abundantly in the stomach, the Clara cells of the lung and activated B-lymphocytes, and at lower levels in lymph nodes, skin and spleen. Not expressed in resting B-lymphocytes.

Evidence on tissue expression from TISSUES for CTSE Gene

  • Stomach(4.8)
  • Blood(4.5)
  • Intestine(4.4)
  • Nervous system(4.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CTSE: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSE Gene

Orthologs for CTSE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CTSE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTSE 33 32
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CTSE 33 32
  • 87.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctse 32
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Ctse 17 33 32
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia CTSE 33
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 42 (a)
OneToMany
-- 33
  • 35 (a)
OneToMany
chicken
(Gallus gallus)
Aves CTSE 33 32
  • 69.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTSE 33
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctse 32
  • 67.2 (n)
zebrafish
(Danio rerio)
Actinopterygii nots 33
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13095 34
  • 45 (a)
Bace 33
  • 44 (a)
ManyToMany
CG17134 33 34
  • 41 (a)
ManyToMany
CG5863 33 34
  • 39 (a)
ManyToMany
pcl 33 34
  • 39 (a)
ManyToMany
CG10104 34
  • 39 (a)
CG33128 33
  • 38 (a)
ManyToMany
CG6508 33 34
  • 35 (a)
ManyToMany
CG5860 33 34
  • 33 (a)
ManyToMany
CG31661 33
  • 32 (a)
ManyToMany
CG31926 33
  • 32 (a)
ManyToMany
CG17283 33 34
  • 31 (a)
ManyToMany
CG31928 33
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea asp-4 34
  • 45 (a)
asp-3 34
  • 42 (a)
Y39B6A.21 34
  • 35 (a)
C11D2.2 34
  • 34 (a)
asp-1 33
  • 33 (a)
ManyToMany
asp-9 33
  • 33 (a)
ManyToMany
Y39B6A.23 34
  • 33 (a)
asp-12 33
  • 32 (a)
ManyToMany
asp-17 33
  • 32 (a)
ManyToMany
F59D6.3 34
  • 32 (a)
F21F8.4 34
  • 32 (a)
C15C8.3 34
  • 32 (a)
asp-18 33
  • 31 (a)
ManyToMany
asp-5 33 34
  • 31 (a)
ManyToMany
asp-16 33
  • 31 (a)
ManyToMany
asp-6 33 34
  • 31 (a)
ManyToMany
Y39B6A.24 34
  • 31 (a)
asp-10 33
  • 30 (a)
ManyToMany
F28A12.4 34
  • 30 (a)
F59D6.2 34
  • 29 (a)
Y39B6A.22 34
  • 29 (a)
asp-15 33
  • 28 (a)
ManyToMany
asp-7 33
  • 28 (a)
ManyToMany
asp-19 33
  • 27 (a)
ManyToMany
asp-13 33
  • 26 (a)
ManyToMany
asp-8 33
  • 23 (a)
ManyToMany
asp-2 33 34
  • 20 (a)
ManyToMany
asp-14 33
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 33
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10126 33
  • 43 (a)
ManyToMany
Species where no ortholog for CTSE was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for CTSE Gene

ENSEMBL:
Gene Tree for CTSE (if available)
TreeFam:
Gene Tree for CTSE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTSE: view image

Paralogs for CTSE Gene

Paralogs for CTSE Gene

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

  • CATE_HUMAN
  • B4DNU8_HUMAN
  • J3KP48_HUMAN
genes like me logo Genes that share paralogs with CTSE: view

Variants for CTSE Gene

Sequence variations from dbSNP and Humsavar for CTSE Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193920960 uncertain-significance, Malignant tumor of prostate 206,022,174(-) C/T coding_sequence_variant, missense_variant
rs1000034488 -- 206,025,202(-) C/A upstream_transcript_variant
rs1000120987 -- 206,024,091(-) C/A upstream_transcript_variant
rs1000134354 -- 206,020,195(-) A/G intron_variant
rs1000407214 -- 206,024,930(-) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv786n54 CNV loss 21841781
dgv787n54 CNV loss 21841781
dgv788n54 CNV loss 21841781
dgv789n54 CNV loss 21841781
esv3578387 CNV loss 25503493
esv3588649 CNV loss 21293372
esv3588654 CNV loss 21293372
nsv549060 CNV loss 21841781

Variation tolerance for CTSE Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSE Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSE

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTSE Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTSE Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric adenocarcinoma
  • adenocarcinoma of stomach
rosai-dorfman disease
  • histiocytosis with joint contractures and sensorineural deafness
- elite association - COSMIC cancer census association via MalaCards
Search CTSE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTSE

genes like me logo Genes that share disorders with CTSE: view

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

Publications for CTSE Gene

  1. An alternatively spliced variant of cathepsin E in human gastric adenocarcinoma cells. (PMID: 12531480) Tatnell PJ … Kay J (Biochimica et biophysica acta 2003) 3 4 23 56
  2. Regulation of human and mouse procathepsin E gene expression. (PMID: 11322887) Cook M … Tatnell PJ (European journal of biochemistry 2001) 3 4 23 56
  3. Regulation of cathepsin E expression during human B cell differentiation in vitro. (PMID: 8765029) Sealy L … Chain B (European journal of immunology 1996) 3 4 23 56
  4. Monomeric human cathepsin E. (PMID: 7789521) Fowler SD … Tatnell PJ (FEBS letters 1995) 3 4 23 56
  5. Human gastric cathepsin E gene. Multiple transcripts result from alternative polyadenylation of the primary transcripts of a single gene locus at 1q31-q32. (PMID: 1370478) Azuma T … Taggart RT (The Journal of biological chemistry 1992) 3 4 23 56

Products for CTSE Gene

  • Boster Bio Antibodies for CTSE
  • Boster Bio ELISA Kits for CTSE

Sources for CTSE Gene