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    CTSE cathepsin E [ Homo sapiens (human) ]

    Gene ID: 1510, updated on 12-Mar-2017
    Official Symbol
    CTSEprovided by HGNC
    Official Full Name
    cathepsin Eprovided by HGNC
    Primary source
    HGNC:HGNC:2530
    See related
    Ensembl:ENSG00000196188 MIM:116890; Vega:OTTHUMG00000036121
    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]
    Orthologs
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (206009264..206023909, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206317459..206332104)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC103021296 Neighboring gene uncharacterized LOC103021295 Neighboring gene RAB7B, member RAS oncogene family Neighboring gene uncharacterized LOC100505650 Neighboring gene uncharacterized LOC105372857 Neighboring gene chromosome 1 open reading frame 186 Neighboring gene arginine vasopressin receptor 1B

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
      MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aspartic-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    digestion TAS
    Traceable Author Statement
    more info
    PubMed 
    protein autoprocessing IEA
    Inferred from Electronic Annotation
    more info
     
    protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    cathepsin E
    Names
    erythrocyte membrane aspartic proteinase
    slow-moving proteinase
    NP_001304260.1
    NP_001901.1
    NP_683865.1

    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
      5001..19646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317331.1NP_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/Swiss-Prot
      P14091
      UniProtKB/TrEMBL
      B4DNU8
      Conserved Domains (2) summary
      pfam00026
      Location:2186
      Asp; Eukaryotic aspartyl protease
      cl11403
      Location:3188
      pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases
    2. NM_001910.3NP_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
      Related
      ENSP00000350911, OTTHUMP00000034345, ENST00000358184, OTTHUMT00000087998
      Conserved Domains (3) summary
      cd05486
      Location:78393
      Cathespin_E; Cathepsin E, non-lysosomal aspartic protease
      pfam00026
      Location:77394
      Asp; Eukaryotic aspartyl protease
      pfam07966
      Location:2149
      A1_Propeptide; A1 Propeptide
    3. NM_148964.2NP_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, AU100136, BC042537
      Consensus CDS
      CCDS73012.1
      UniProtKB/Swiss-Prot
      P14091
      Related
      ENSP00000353350, OTTHUMP00000034346, ENST00000360218, OTTHUMT00000087999
      Conserved Domains (3) summary
      pfam00026
      Location:77261
      Asp; Eukaryotic aspartyl protease
      pfam07966
      Location:2149
      A1_Propeptide; A1 Propeptide
      cl11403
      Location:78263
      pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      206009264..206023909 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (3) summary
      pfam00026
      Location:77266
      Asp; Eukaryotic aspartyl protease
      pfam07966
      Location:2149
      A1_Propeptide; A1 Propeptide
      cl11403
      Location:78268
      pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases
    2. XM_011509244.1XP_011507546.1  cathepsin E isoform X1

      Conserved Domains (3) summary
      cd05486
      Location:78398
      Cathespin_E; Cathepsin E, non-lysosomal aspartic protease
      pfam00026
      Location:77399
      Asp; Eukaryotic aspartyl protease
      pfam07966
      Location:2149
      A1_Propeptide; A1 Propeptide
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