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CTSE cathepsin E [ Homo sapiens (human) ]

Gene ID: 1510, updated on 2-Nov-2024

Summary

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Official Symbol
CTSEprovided by HGNC
Official Full Name
cathepsin Eprovided by HGNC
Primary source
HGNC:HGNC:2530
See related
Ensembl:ENSG00000196188 MIM:116890; AllianceGenome:HGNC:2530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CATE
Summary
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]
Expression
Biased expression in stomach (RPKM 543.0) and duodenum (RPKM 112.5) See more
Orthologs
mouse all
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Genomic context

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See CTSE in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (206009264..206023895, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205273263..205287895, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206317473..206332104)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SLC26A9 and RAB7B antisense RNA 1 Neighboring gene uncharacterized LOC103021295 Neighboring gene RAB7B, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206328947-206329447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:206299039-206299540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2395 Neighboring gene uncharacterized LOC105372857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2396 Neighboring gene Sharpr-MPRA regulatory region 5780 Neighboring gene regulator of hemoglobinization and erythroid cell expansion Neighboring gene small nucleolar RNA SNORD60

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. [Atopic dermatitis and cathepsin E]. Tsukuba T, et al. Nihon Yakurigaku Zasshi, 2003 Jul. PMID 12843568
  2. Isolation and biochemical characterization of procathepsin E from human erythrocyte membranes. Takeda-Ezaki M, et al. Arch Biochem Biophys, 1993 Aug 1. PMID 8346912
  3. Modeling the tertiary structure of human cathepsin-E. Chou KC. Biochem Biophys Res Commun, 2005 May 27. PMID 15845357
  4. Crystal structure of an activation intermediate of cathepsin E. Ostermann N, et al. J Mol Biol, 2004 Sep 17. PMID 15342244
  5. Cathepsin E regulates the presentation of tetanus toxin C-fragment in PMA activated primary human B cells. Burster T, et al. Biochem Biophys Res Commun, 2008 Dec 26. PMID 18996084

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Microglial cathepsin E plays a role in neuroinflammation and amyloid beta production in Alzheimer's disease.
    Title: Microglial cathepsin E plays a role in neuroinflammation and amyloid β production in Alzheimer's disease.
  2. Higher contents of cathepsin A, D, and E in the wall of the aortic aneurysms and a positive correlation between the concentration of cathepsin A and D and the width of the aneurysmal widening, suggests the participation of these enzymes in the pathogenesis of the aneurysm.
    Title: The Relationship between the Concentration of Cathepsin A, D, and E and the Concentration of Copper and Zinc, and the Size of the Aneurysmal Enlargement in the Wall of the Abdominal Aortic Aneurysm.
  3. Cathepsin E, mitochondrial fission, and caspase activation/apoptosis are linked in the pathogenesis of pulmonary emphysema.
    Title: Cathepsin E promotes pulmonary emphysema via mitochondrial fission.
  4. High Expression of Cathepsin E is associated with Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma.
    Title: High Expression of Cathepsin E in Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma.
  5. Decreased activity of cathepsin E produced by decidual macrophages might be responsible for the induction of miscarriages in some recurrent miscarriage patients.
    Title: Role of cathepsin E in decidual macrophage of patients with recurrent miscarriage.
  6. data demonstrate that CatE contributes to normal growth and development of mammary glands through proper trafficking and secretion of Wnt5a
    Title: Repression of cathepsin E expression increases the risk of mammary carcinogenesis and links to poor prognosis in breast cancer.
  7. CTSE is a marker of both gastric differentiation and signet-ring cell carcinoma, which should shed light on the mechanism of gastric tumorigenesis.
    Title: Cathepsin E is a marker of gastric differentiation and signet-ring cell carcinoma of stomach: a novel suggestion on gastric tumorigenesis.
  8. Cath E activity is useful as a potential molecular target for Pancreatic ductal adenocarcinoma and early detection imaging.
    Title: Detection of pancreatic cancer tumours and precursor lesions by cathepsin E activity in mouse models.
  9. A comparative structure model of splice variant 2 was computed based on its alignment to the known structure of cathepsin E intermediate (Protein Data Bank code 1TZS) and used to rationalize its conformational properties and loss of activity.
    Title: Biochemical characterization and structural modeling of human cathepsin E variant 2 in comparison to the wild-type protein.
  10. Emerging roles of cathepsin E in immune system cells and skin keratinocytes, and in host defense against cancer cells.
    Title: Emerging roles of cathepsin E in host defense mechanisms.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 is processed in its V3 loop by cathepsin E PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein autoprocessing IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
cathepsin E
Names
erythrocyte membrane aspartic proteinase
slow-moving proteinase
NP_001304260.1
NP_001901.1
NP_683865.1
XP_011507546.1
XP_011507547.1
XP_054190674.1
XP_054190675.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029664.1 RefSeqGene

    Range
    5015..19646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317331.2 → NP_001304260.1  cathepsin E isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. The encoded isoform (c) is shorter and lacks a predicted signal peptide compared to isoform a.
    Source sequence(s)
    AK298069, AU100136, BC042537
    UniProtKB/TrEMBL
    B4DNU8
    Conserved Domains (2) summary
    pfam00026
    Location:2 → 186
    Asp; Eukaryotic aspartyl protease
    cl11403
    Location:3 → 188
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

  2. NM_001910.4 → NP_001901.1  cathepsin E isoform a preproprotein

    See identical proteins and their annotated locations for NP_001901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AU100136, BC042537
    Consensus CDS
    CCDS73013.1
    UniProtKB/Swiss-Prot
    P14091, Q5TZ01, Q5TZ02, Q9NY58, Q9UCE3, Q9UCE4
    UniProtKB/TrEMBL
    A0A7I2V480
    Related
    ENSP00000350911.2, ENST00000358184.7
    Conserved Domains (2) summary
    cd05486
    Location:78 → 393
    Cathespin_E; Cathepsin E, non-lysosomal aspartic protease
    pfam07966
    Location:21 → 49
    A1_Propeptide; A1 Propeptide

  3. NM_148964.3 → NP_683865.1  cathepsin E isoform b precursor

    See identical proteins and their annotated locations for NP_683865.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region resulting in a frameshift compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus compared to isoform a. This isoform (b) may undergo proteolytic processing but exhibits reduced enzymatic activity compared to isoform a.
    Source sequence(s)
    AJ250716, BC042537
    Consensus CDS
    CCDS73012.1
    UniProtKB/Swiss-Prot
    P14091
    Related
    ENSP00000504305.1, ENST00000678498.1
    Conserved Domains (3) summary
    pfam00026
    Location:77 → 261
    Asp; Eukaryotic aspartyl protease
    pfam07966
    Location:21 → 49
    A1_Propeptide; A1 Propeptide
    cl11403
    Location:78 → 263
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    206009264..206023895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509245.2 → XP_011507547.1  cathepsin E isoform X2

    Conserved Domains (3) summary
    pfam00026
    Location:77 → 266
    Asp; Eukaryotic aspartyl protease
    pfam07966
    Location:21 → 49
    A1_Propeptide; A1 Propeptide
    cl11403
    Location:78 → 268
    pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

  2. XM_011509244.2 → XP_011507546.1  cathepsin E isoform X1

    UniProtKB/TrEMBL
    A0A7I2V480, A0A7P0MPN9
    Related
    ENSP00000353350.3, ENST00000360218.3
    Conserved Domains (3) summary
    cd05486
    Location:78 → 398
    Cathespin_E; Cathepsin E, non-lysosomal aspartic protease
    pfam00026
    Location:77 → 399
    Asp; Eukaryotic aspartyl protease
    pfam07966
    Location:21 → 49
    A1_Propeptide; A1 Propeptide

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    205273263..205287895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334700.1 → XP_054190675.1  cathepsin E isoform X2

  2. XM_054334699.1 → XP_054190674.1  cathepsin E isoform X1

    UniProtKB/TrEMBL
    A0A7P0MPN9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14091.3 GenPept UniProtKB/Swiss-Prot:P14091

Gene LinkOut

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