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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
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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

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