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    LAMP3 lysosomal associated membrane protein 3 [ Homo sapiens (human) ]

    Gene ID: 27074, updated on 28-Oct-2024

    Summary

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    Official Symbol
    LAMP3provided by HGNC
    Official Full Name
    lysosomal associated membrane protein 3provided by HGNC
    Primary source
    HGNC:HGNC:14582
    See related
    Ensembl:ENSG00000078081 MIM:605883; AllianceGenome:HGNC:14582
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAMP; CD208; DCLAMP; LAMP-3; TSC403; DC LAMP; DC-LAMP
    Summary
    Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]
    Expression
    Biased expression in lung (RPKM 74.1), appendix (RPKM 11.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LAMP3 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183122215..183163813, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185928423..185968931, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182840003..182880522, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906309 Neighboring gene methylcrotonyl-CoA carboxylase subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20884 Neighboring gene uncharacterized LOC105374247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182877289-182877788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14937 Neighboring gene small nucleolar RNA, C/D box 3 pseudogene 4 Neighboring gene MCF.2 cell line derived transforming sequence-like 2 Neighboring gene MPRA-validated peak4957 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:182951891-182952104 Neighboring gene uncharacterized LOC124906310

    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 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. DC-LAMP+ dendritic cells are recruited to gastric lymphoid follicles in Helicobacter pylori-infected individuals. Hansson M, et al. Infect Immun, 2013 Oct. PMID 23876802, Free PMC Article
    2. Clinical Significance and Prognostic Value of the Expression of LAMP3 in Oral Squamous Cell Carcinoma. Lu J, et al. Dis Markers, 2017. PMID 28607528, Free PMC Article
    3. LAMP3 expression correlated with poor clinical outcome in human ovarian cancer. Wang D, et al. Tumour Biol, 2017 Mar. PMID 28349821
    4. Vitamin D(3) regulates LAMP3 expression in monocyte derived dendritic cells. Malaguarnera L, et al. Cell Immunol, 2017 Jan. PMID 27697285
    5. LAMP-3 (Lysosome-Associated Membrane Protein 3) Promotes the Intracellular Proliferation of Salmonella typhimurium. Lee EJ, et al. Mol Cells, 2016 Jul. PMID 27329040, Free PMC Article

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The subtilisin-like protease furin regulates hemin-induced CD63 surface expression on platelets.
      Title: The subtilisin-like protease furin regulates hemin-induced CD63 surface expression on platelets.
    2. LAMP3 is a potent uterine corpus endometrial carcinoma prognostic biomarker associated with immune behavior.
      Title: LAMP3 is a potent uterine corpus endometrial carcinoma prognostic biomarker associated with immune behavior.
    3. Inhibition of LAMP3 mediates the protective effect of vitamin D against hypoxia/reoxygenation in trophoblast cells.
      Title: Inhibition of LAMP3 mediates the protective effect of vitamin D against hypoxia/reoxygenation in trophoblast cells.
    4. MiR-526b-3p enhances sensitivity of head and neck squamous cell carcinoma cells to radiotherapy via suppressing exosomal LAMP3-mediated autophagy.
      Title: MiR-526b-3p enhances sensitivity of head and neck squamous cell carcinoma cells to radiotherapy via suppressing exosomal LAMP3-mediated autophagy.
    5. Lysosome-Associated Membrane Protein 3 Induces Lysosome-Dependent Cell Death by Impairing Autophagic Caspase 8 Degradation in the Salivary Glands of Individuals With Sjogren's Disease.
      Title: Lysosome-Associated Membrane Protein 3 Induces Lysosome-Dependent Cell Death by Impairing Autophagic Caspase 8 Degradation in the Salivary Glands of Individuals With Sjögren's Disease.
    6. LAMP3 transfer via extracellular particles induces apoptosis in Sjogren's disease.
      Title: LAMP3 transfer via extracellular particles induces apoptosis in Sjögren's disease.
    7. LAMP3/CD63 Expression in Early and Late Endosomes in Human Vaginal Epithelial Cells Is Associated with Enhancement of HSV-2 Infection.
      Title: LAMP3/CD63 Expression in Early and Late Endosomes in Human Vaginal Epithelial Cells Is Associated with Enhancement of HSV-2 Infection.
    8. Upregulation of ATF4-LAMP3 Axis by ORF45 Facilitates Lytic Replication of Kaposi's Sarcoma-Associated Herpesvirus.
      Title: Upregulation of ATF4-LAMP3 Axis by ORF45 Facilitates Lytic Replication of Kaposi's Sarcoma-Associated Herpesvirus.
    9. LAMP3 inhibits autophagy and contributes to cell death by lysosomal membrane permeabilization.
      Title: LAMP3 inhibits autophagy and contributes to cell death by lysosomal membrane permeabilization.
    10. Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
      Title: Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of lysosomal-associated membrane protein 3 (LAMP3) in human B cells PubMed
    Tat tat HIV-1 Tat upregulates the expression of lysosomal-associated membrane protein 3 (LAMP3) in human primary T cells 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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of protein localization to organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of viral life cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to interferon-alpha IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in symbiont entry into host cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in alveolar lamellar body membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lysosome-associated membrane glycoprotein 3
    Names
    DC-lysosome-associated membrane glycoprotein

    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.

    mRNA and Protein(s)

    1. NM_014398.4 → NP_055213.2  lysosome-associated membrane glycoprotein 3 precursor

      See identical proteins and their annotated locations for NP_055213.2

      Status: VALIDATED

      Source sequence(s)
      AC104641, AJ005766, DA994656, DC399447
      Consensus CDS
      CCDS3242.1
      UniProtKB/Swiss-Prot
      D3DNS4, O94781, Q8NEC8, Q9UQV4
      UniProtKB/TrEMBL
      B2R7Z2
      Related
      ENSP00000265598.3, ENST00000265598.8
      Conserved Domains (1) summary
      pfam01299
      Location:101 → 416
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      183122215..183163813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247360.6 → XP_005247417.1  lysosome-associated membrane glycoprotein 3 isoform X1

      UniProtKB/TrEMBL
      B2R7Z2
      Conserved Domains (1) summary
      pfam01299
      Location:101 → 418
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    2. XM_047447967.1 → XP_047303923.1  lysosome-associated membrane glycoprotein 3 isoform X2

    3. XM_011512688.3 → XP_011510990.1  lysosome-associated membrane glycoprotein 3 isoform X3

      Conserved Domains (1) summary
      pfam01299
      Location:101 → 314
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      185928423..185968931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346166.1 → XP_054202141.1  lysosome-associated membrane glycoprotein 3 isoform X1

    2. XM_054346167.1 → XP_054202142.1  lysosome-associated membrane glycoprotein 3 isoform X2

    3. XM_054346168.1 → XP_054202143.1  lysosome-associated membrane glycoprotein 3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UQV4.3 GenPept UniProtKB/Swiss-Prot:Q9UQV4

    Gene LinkOut

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

    Chemical Information
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