CTSE cathepsin E [Homo sapiens (human)] - Gene

Summary

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

Location:: 1q32.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (206009264..206023895, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (205273263..205287895, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (206317473..206332104)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

SHGC-76246 (e-PCR)
- UniSTS:47139

SHGC-81197 (e-PCR)
- UniSTS:102021

D1S3200 (e-PCR)
- UniSTS:72072

G15897 (e-PCR)
- UniSTS:11923

RH104483 (e-PCR)
- UniSTS:98795

AL033753 (e-PCR)
- UniSTS:93933

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

EC 3.4.23.34

NP_001901.1

EC 3.4.23.34

NP_683865.1

EC 3.4.23.34

XP_011507546.1

EC 3.4.23.34

XP_011507547.1

EC 3.4.23.34

XP_054190674.1

EC 3.4.23.34

XP_054190675.1

EC 3.4.23.34

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

NG_029664.1 RefSeqGene

Range

5015..19646

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

206009264..206023895 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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