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    CTSE cathepsin E [ Homo sapiens (human) ]

    Gene ID: 1510, updated on 27-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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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