LGMN legumain [Homo sapiens (human)] - Gene

Summary

Official Symbol: LGMNprovided by HGNC
Official Full Name: legumainprovided by HGNC
Primary source: HGNC:HGNC:9472
See related: Ensembl:ENSG00000100600 MIM:602620; AllianceGenome:HGNC:9472
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: AEP; LGMN1; PRSC1
Summary: This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 135.7), spleen (RPKM 98.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (92703809..92748627, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (86935604..86980392, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (93170154..93214972, complement)

Chromosome 14 - NC_000014.9 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 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?

AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments.
Title: AEP-cleaved DDX3X induces alternative RNA splicing events to mediate cancer cell adaptation in harsh microenvironments.
c-Src regulates delta-secretase activation and truncated Tau production by phosphorylating the E3 ligase Traf6.
Title: c-Src regulates δ-secretase activation and truncated Tau production by phosphorylating the E3 ligase Traf6.
Potential relevance of salivary legumain for the clinical diagnostic of hand, foot, and mouth disease.
Title: Potential relevance of salivary legumain for the clinical diagnostic of hand, foot, and mouth disease.
Relationship between Increased Plasma Levels of Legumain and Properties of Coronary Atherosclerotic Plaque.
Title: Relationship between Increased Plasma Levels of Legumain and Properties of Coronary Atherosclerotic Plaque.
Asparaginyl endopeptidase contributes to cetuximab resistance via MEK/ERK signaling in RAS wide-type metastatic colorectal cancer.
Title: Asparaginyl endopeptidase contributes to cetuximab resistance via MEK/ERK signaling in RAS wide-type metastatic colorectal cancer.
Metformin regulates autophagy via LGMN to inhibit choriocarcinoma.
Title: Metformin regulates autophagy via LGMN to inhibit choriocarcinoma.
An infection-induced oxidation site regulates legumain processing and tumor growth.
Title: An infection-induced oxidation site regulates legumain processing and tumor growth.
Legumain Is an Endogenous Modulator of Integrin alphavbeta3 Triggering Vascular Degeneration, Dissection, and Rupture.
Title: Legumain Is an Endogenous Modulator of Integrin αvβ3 Triggering Vascular Degeneration, Dissection, and Rupture.
Identification of the Cysteine Protease Legumain as a Potential Chronic Hypoxia-Specific Multiple Myeloma Target Gene.
Title: Identification of the Cysteine Protease Legumain as a Potential Chronic Hypoxia-Specific Multiple Myeloma Target Gene.
C/EBPbeta/AEP Signaling Regulates the Oxidative Stress in Malignant Cancers, Stimulating the Metastasis.
Title: C/EBPβ/AEP Signaling Regulates the Oxidative Stress in Malignant Cancers, Stimulating the Metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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 transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of legumain (LGMN) in peptide-treated PBMCs	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

G35862 (e-PCR)
- UniSTS:72982

RH78327 (e-PCR)
- UniSTS:77098

LGMN-1 (e-PCR)
- UniSTS:511834

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-169 (e-PCR)
- UniSTS:3985

G35826 (e-PCR)
- UniSTS:18334

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables cysteine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables endopeptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS Traceable Author Statement more info
involved_in associative learning	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to amyloid-beta	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hepatocyte growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic spine organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of ERBB signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of monocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis involved in protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis involved in protein catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in receptor catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal system process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in response to acidic pH	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in self proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in vacuolar protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin D metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endolysosome lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	TAS Traceable Author Statement more info	PubMed
is_active_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosome	TAS Traceable Author Statement more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: legumain

Names: asparaginyl endopeptidase; cysteine protease 1; protease, cysteine 1; protease, cysteine, 1 (legumain)

NP_001008530.1

EC 3.4.22.34

NP_001350625.1

EC 3.4.22.34

NP_001350628.1

EC 3.4.22.34

NP_005597.3

EC 3.4.22.34

XP_005267919.1

EC 3.4.22.34

XP_005267920.1

EC 3.4.22.34

XP_011535272.1

EC 3.4.22.34

XP_016876952.1

EC 3.4.22.34

XP_047287551.1

EC 3.4.22.34

XP_047287553.1

EC 3.4.22.34

XP_047287554.1

EC 3.4.22.34

XP_054232381.1

EC 3.4.22.34

XP_054232382.1

EC 3.4.22.34

XP_054232383.1

EC 3.4.22.34

XP_054232384.1

EC 3.4.22.34

XP_054232385.1

EC 3.4.22.34

XP_054232386.1

EC 3.4.22.34

XP_054232387.1

EC 3.4.22.34

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.