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Aliases for LGMN Gene

Aliases for LGMN Gene

  • Legumain 2 3 3 5
  • Protease, Cysteine, 1 (Legumain) 2 3
  • Asparaginyl Endopeptidase 3 4
  • Protease, Cysteine 1 3 4
  • EC 3.4.22.34 4 56
  • PRSC1 3 4
  • Cysteine Protease 1 3
  • LGMN1 3
  • AEP 3

External Ids for LGMN Gene

Previous HGNC Symbols for LGMN Gene

  • PRSC1

Previous GeneCards Identifiers for LGMN Gene

  • GC14M090677
  • GC14M086987
  • GC14M091160
  • GC14M092239
  • GC14M093170
  • GC14M073353

Summaries for LGMN Gene

Entrez Gene Summary for LGMN Gene

  • 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]

GeneCards Summary for LGMN Gene

LGMN (Legumain) is a Protein Coding gene. Diseases associated with LGMN include Schistosomiasis. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include peptidase activity and cysteine-type endopeptidase activity. An important paralog of this gene is PIGK.

UniProtKB/Swiss-Prot for LGMN Gene

  • Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system.

Gene Wiki entry for LGMN Gene

Additional gene information for LGMN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LGMN Gene

Genomics for LGMN Gene

GeneHancer (GH) Regulatory Elements for LGMN Gene

Promoters and enhancers for LGMN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I092746 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 550.8 +1.0 1018 3.2 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 FOS SP3 LGMN GC14P092700 GC14P092353
GH14I092749 Enhancer 0.8 Ensembl ENCODE 550.8 -2.0 -1952 1.6 NFATC3 RXRA NFYC SP2 ZNF316 POLR2A SCRT2 NFYB NBN MLLT1 LGMN GOLGA5 GC14P092353
GH14I092562 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 29.4 +183.5 183490 4.6 EBF1 BATF IRF4 RELA ZNF316 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 LGMN RIN3 ATXN3 PIR35810 LOC105370707 GC14P092353
GH14I092703 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.9 +44.1 44145 1.5 PKNOX1 BACH1 MAX EBF1 BATF IRF4 RELA CTBP1 ZNF547 ZNF143 LGMN GC14P092700 GC14P092353
GH14I092767 Enhancer 0.9 Ensembl ENCODE 12.8 -20.9 -20928 4 PKNOX1 BACH1 EBF1 BATF IRF4 RELA ATF7 ETV6 BCLAF1 IKZF2 LGMN CPSF2 GOLGA5 GC14P092353
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LGMN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LGMN gene promoter:

Genomic Locations for LGMN Gene

Genomic Locations for LGMN Gene
chr14:92,703,807-92,748,702
(GRCh38/hg38)
Size:
44,896 bases
Orientation:
Minus strand
chr14:93,170,152-93,215,047
(GRCh37/hg19)

Genomic View for LGMN Gene

Genes around LGMN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LGMN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LGMN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LGMN Gene

Proteins for LGMN Gene

  • Protein details for LGMN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99538-LGMN_HUMAN
    Recommended name:
    Legumain
    Protein Accession:
    Q99538
    Secondary Accessions:
    • O00123
    • Q86TV2
    • Q86TV3
    • Q9BTY1

    Protein attributes for LGMN Gene

    Size:
    433 amino acids
    Molecular mass:
    49411 Da
    Quaternary structure:
    • Homodimer before autocatalytic removal of the propeptide (By similarity). Monomer after autocatalytic processing. May interact with integrins.

    Three dimensional structures from OCA and Proteopedia for LGMN Gene

    Alternative splice isoforms for LGMN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LGMN Gene

Selected DME Specific Peptides for LGMN Gene

Q99538:
  • SHVMQYG
  • NFLAVLRGD
  • HFRTHCFNWHS
  • DLHVKDLN
  • LGDWYSVNWMEDSDVEDLTKETLHKQY
  • EACESGS
  • LDLTPSP
  • NYRHQAD
  • IMKRKLM
  • PTYEYALRHLYVLVNLCE
  • ESSYACYYDE
  • GVPKDYTG
  • SEDNPTPGIVINRPNG
  • NLCEKPYP

Post-translational modifications for LGMN Gene

Protein Products

Domains & Families for LGMN Gene

Gene Families for LGMN Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LGMN Gene

Graphical View of Domain Structure for InterPro Entry

Q99538

UniProtKB/Swiss-Prot:

LGMN_HUMAN :
  • In the zymogen form, the uncleaved propeptide blocks access to the active site.
  • Belongs to the peptidase C13 family.
Domain:
  • In the zymogen form, the uncleaved propeptide blocks access to the active site.
Family:
  • Belongs to the peptidase C13 family.
genes like me logo Genes that share domains with LGMN: view

Function for LGMN Gene

Molecular function for LGMN Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 5.5 for the free enzyme, and pH 6 in the presence of bound integrins. {ECO:0000269 PubMed:23776206};
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins and small molecule substrates at -Asn- -Xaa- bonds.
UniProtKB/Swiss-Prot Function:
Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system.

Enzyme Numbers (IUBMB) for LGMN Gene

Phenotypes From GWAS Catalog for LGMN Gene

Gene Ontology (GO) - Molecular Function for LGMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS,IEA --
GO:0008233 peptidase activity IEA,IDA 136644
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with LGMN: view
genes like me logo Genes that share phenotypes with LGMN: view

Animal Models for LGMN Gene

MGI Knock Outs for LGMN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LGMN Gene

Localization for LGMN Gene

Subcellular locations from UniProtKB/Swiss-Prot for LGMN Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LGMN gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 5
cytosol 3
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LGMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome ISS --
GO:0005770 late endosome IEA --
GO:0036021 endolysosome lumen TAS --
GO:0043202 lysosomal lumen TAS --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with LGMN: view

Pathways & Interactions for LGMN Gene

genes like me logo Genes that share pathways with LGMN: view

Pathways by source for LGMN Gene

1 Cell Signaling Technology pathway for LGMN Gene
2 KEGG pathways for LGMN Gene
1 GeneGo (Thomson Reuters) pathway for LGMN Gene

Gene Ontology (GO) - Biological Process for LGMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0003014 renal system process IEA,ISS --
GO:0006508 proteolysis ISS,IEA 9065484
GO:0006624 vacuolar protein processing IBA --
GO:0010447 response to acidic pH IEA --
genes like me logo Genes that share ontologies with LGMN: view

No data available for SIGNOR curated interactions for LGMN Gene

Drugs & Compounds for LGMN Gene

(3) Drugs for LGMN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for LGMN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LGMN: view

Transcripts for LGMN Gene

Unigene Clusters for LGMN Gene

Legumain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LGMN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c · 14d · 14e
SP1: - - -
SP2:
SP3: - - -
SP4: - - - -
SP5:
SP6: - - -
SP7: - - -
SP8:

Relevant External Links for LGMN Gene

GeneLoc Exon Structure for
LGMN
ECgene alternative splicing isoforms for
LGMN

Expression for LGMN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LGMN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LGMN Gene

This gene is overexpressed in Spleen (9.6), Oral epithelium (7.7), and Amniocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LGMN Gene



Protein tissue co-expression partners for LGMN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LGMN Gene:

LGMN

SOURCE GeneReport for Unigene cluster for LGMN Gene:

Hs.18069

mRNA Expression by UniProt/SwissProt for LGMN Gene:

Q99538-LGMN_HUMAN
Tissue specificity: Ubiquitous. Particularly abundant in kidney, heart and placenta.

Evidence on tissue expression from TISSUES for LGMN Gene

  • Blood(4.8)
  • Heart(4.5)
  • Kidney(4.5)
  • Liver(4.4)
  • Nervous system(4.4)
  • Intestine(3.9)
  • Lung(3)
  • Spleen(2.8)
  • Stomach(2.5)
  • Lymph node(2.4)
  • Gall bladder(2)
  • Muscle(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with LGMN: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LGMN Gene

Orthologs for LGMN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LGMN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LGMN 33 34
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia LGMN 33 34
  • 84.91 (n)
dog
(Canis familiaris)
Mammalia LGMN 33 34
  • 83.22 (n)
rat
(Rattus norvegicus)
Mammalia Lgmn 33
  • 82.29 (n)
mouse
(Mus musculus)
Mammalia Lgmn 33 16 34
  • 81.68 (n)
oppossum
(Monodelphis domestica)
Mammalia LGMN 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LGMN 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves LGMN 33 34
  • 73.78 (n)
lizard
(Anolis carolinensis)
Reptilia LGMN 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lgmn 33
  • 67.44 (n)
zebrafish
(Danio rerio)
Actinopterygii lgmn 33 34
  • 67.53 (n)
sbcb173 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14073 33
worm
(Caenorhabditis elegans)
Secernentea T28H10.3 33 34
  • 51.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI8 34
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DELTA-VPE 33
  • 50.29 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7157 33
rice
(Oryza sativa)
Liliopsida Os.4189 33
wheat
(Triticum aestivum)
Liliopsida Ta.9998 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5118 33
Species where no ortholog for LGMN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for LGMN Gene

ENSEMBL:
Gene Tree for LGMN (if available)
TreeFam:
Gene Tree for LGMN (if available)

Paralogs for LGMN Gene

Paralogs for LGMN Gene

Pseudogenes.org Pseudogenes for LGMN Gene

genes like me logo Genes that share paralogs with LGMN: view

Variants for LGMN Gene

Sequence variations from dbSNP and Humsavar for LGMN Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000000467 -- 92,743,345(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000045076 -- 92,709,878(-) G/A intron_variant
rs1000289219 -- 92,749,556(-) A/G upstream_transcript_variant
rs1000325171 -- 92,715,347(-) C/G intron_variant
rs1000423968 -- 92,727,631(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LGMN Gene

Variant ID Type Subtype PubMed ID
nsv565525 CNV loss 21841781
nsv565524 CNV loss 21841781
nsv521526 CNV loss 19592680
nsv456400 CNV loss 19166990
nsv456399 CNV loss 19166990
nsv1399 CNV insertion 18451855
nsv1160201 CNV duplication 26073780
nsv1120300 CNV tandem duplication 24896259
dgv417e214 CNV gain 21293372

Variation tolerance for LGMN Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LGMN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LGMN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LGMN Gene

Disorders for LGMN Gene

MalaCards: The human disease database

(1) MalaCards diseases for LGMN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schistosomiasis
  • katayama fever
- elite association - COSMIC cancer census association via MalaCards
Search LGMN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LGMN

genes like me logo Genes that share disorders with LGMN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LGMN Gene

Publications for LGMN Gene

  1. Cloning, isolation, and characterization of mammalian legumain, an asparaginyl endopeptidase. (PMID: 9065484) Chen JM … Barrett AJ (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. Activation of human prolegumain by cleavage at a C-terminal asparagine residue. (PMID: 11085925) Chen JM … Barrett AJ (The Biochemical journal 2000) 3 4 22 58
  3. Autocatalytic activation of human legumain at aspartic acid residues. (PMID: 9821970) Halfon S … Zurawski G (FEBS letters 1998) 3 4 22 58
  4. Molecular cloning of a human cDNA encoding putative cysteine protease (PRSC1) and its chromosome assignment to 14q32.1. (PMID: 8893817) Tanaka T … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 58
  5. Mechanistic and structural studies on legumain explain its zymogenicity, distinct activation pathways, and regulation. (PMID: 23776206) Dall E … Brandstetter H (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58

Products for LGMN Gene

Sources for LGMN Gene

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