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CTSE cathepsin E [ Homo sapiens (human) ]

Gene ID: 1510, updated on 7-Dec-2018

Summary

Official Symbol
CTSEprovided by HGNC
Official Full Name
cathepsin Eprovided by HGNC
Primary source
HGNC:HGNC:2530
See related
Ensembl:ENSG00000196188 MIM:116890
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

Genomic context

See CTSE in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 SLC26A9 and RAB7B antisense RNA 1 Neighboring gene uncharacterized LOC103021295 Neighboring gene RAB7B, member RAS oncogene family Neighboring gene uncharacterized LOC105372857 Neighboring gene regulator of hemoglobinization and erythroid cell expansion Neighboring gene arginine vasopressin receptor 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein autoprocessing IEA
Inferred from Electronic Annotation
more info
 
protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001910.4NP_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
    ENSP00000350911.2, ENST00000358184.6
    Conserved Domains (2) summary
    cd05486
    Location:78393
    Cathespin_E; Cathepsin E, non-lysosomal aspartic 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
    ENSP00000353350.2, ENST00000360218.2
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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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