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    LMLN leishmanolysin like peptidase [ Homo sapiens (human) ]

    Gene ID: 89782, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LMLNprovided by HGNC
    Official Full Name
    leishmanolysin like peptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:15991
    See related
    Ensembl:ENSG00000185621 MIM:609380; AllianceGenome:HGNC:15991
    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
    INV; MSP; GP63; IX14; LMNL1
    Summary
    This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
    Expression
    Broad expression in testis (RPKM 8.5), thyroid (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q29
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (197960217..198043720)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (200692672..200776106)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (197687088..197770591)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15094 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:197639502-197640701 Neighboring gene IQ motif containing G Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197676763-197677545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:197678329-197679110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:197685865-197686365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15095 Neighboring gene MPRA-validated peak4998 silencer Neighboring gene ribosomal protein L35a Neighboring gene MPRA-validated peak4999 silencer Neighboring gene RNA, U6 small nuclear 621, pseudogene Neighboring gene LMLN antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:197777783-197777969 Neighboring gene ankyrin repeat domain 18D, pseudogene Neighboring gene Sharpr-MPRA regulatory region 12303 Neighboring gene RNA, U6 small nuclear 821, pseudogene Neighboring gene FSHD region gene 2 family member F, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The conserved metalloprotease invadolysin localizes to the surface of lipid droplets. Cobbe N, et al. J Cell Sci, 2009 Sep 15. PMID 19706689, Free PMC Article
    2. miR-17-3p promotes the proliferation of multiple myeloma cells by downregulating P21 expression through LMLN inhibition. Xiang P, et al. Int J Cancer, 2021 Jun 15. PMID 33609405, Free PMC Article
    3. Invadolysin: a novel, conserved metalloprotease links mitotic structural rearrangements with cell migration. McHugh B, et al. J Cell Biol, 2004 Nov 22. PMID 15557119, Free PMC Article
    4. High throughput RNAi screening identifies ID1 as a synthetic sick/lethal gene interacting with the common TP53 mutation R175H. Imai H, et al. Oncol Rep, 2014 Mar. PMID 24378760, Free PMC Article
    5. An improved smaller biotin ligase for BioID proximity labeling. Kim DI, et al. Mol Biol Cell, 2016 Apr 15. PMID 26912792, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-17-3p promotes the proliferation of multiple myeloma cells by downregulating P21 expression through LMLN inhibition.
      Title: miR-17-3p promotes the proliferation of multiple myeloma cells by downregulating P21 expression through LMLN inhibition.
    2. Immunofluorescent detection of human invadolysin in cultured cells reveals the protein to be associated with the surface of lipid droplets.
      Title: The conserved metalloprotease invadolysin localizes to the surface of lipid droplets.
    3. Functional characterization of a similar protein in Drosophila and comparative studies with the human protein.
      Title: Invadolysin: a novel, conserved metalloprotease links mitotic structural rearrangements with cell migration.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leishmanolysin-like peptidase
    Names
    invadolysin
    leishmanolysin-2
    leishmanolysin-like (metallopeptidase M8 family)
    NP_001129521.3
    NP_149018.3
    XP_047305111.1
    XP_047305112.1

    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

    1. NG_047207.1 RefSeqGene

      Range
      5018..88521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136049.3 → NP_001129521.3  leishmanolysin-like peptidase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC135893, AJ312399, AK299119
      Consensus CDS
      CCDS46988.2
      UniProtKB/TrEMBL
      B4DR62
      Related
      ENSP00000410926.3, ENST00000420910.7
      Conserved Domains (1) summary
      cl19482
      Location:99 → 631
      Peptidase_M8; Leishmanolysin

    2. NM_033029.4 → NP_149018.3  leishmanolysin-like peptidase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC135893, AJ312399, AK299119
      Consensus CDS
      CCDS3332.2
      UniProtKB/Swiss-Prot
      B3LDG9, B3LDH0, C9J796, F8WB28, Q96KR4, Q96KR5
      Related
      ENSP00000328829.5, ENST00000330198.8
      Conserved Domains (1) summary
      cl19482
      Location:99 → 594
      Peptidase_M8; Leishmanolysin

    RNA

    1. NR_026786.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, results in an upstream ORF that is predicted to interfere with translation of the longest ORF. This transcript is likely to be a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135893, AJ312398, AK299119

    2. NR_026787.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and lacks an alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, results in an upstream ORF that is predicted to interfere with translation of the longest ORF. This transcript is likely to be a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135893, AJ312398, AK299119, AM920778

    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

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      197960217..198043720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449155.1 → XP_047305111.1  leishmanolysin-like peptidase isoform X1

    2. XM_047449156.1 → XP_047305112.1  leishmanolysin-like peptidase isoform X2

    RNA

    1. XR_007095764.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      200692672..200776106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486848.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KR4.3 GenPept UniProtKB/Swiss-Prot:Q96KR4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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