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    LAMP5 lysosomal associated membrane protein family member 5 [ Homo sapiens (human) ]

    Gene ID: 24141, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LAMP5provided by HGNC
    Official Full Name
    lysosomal associated membrane protein family member 5provided by HGNC
    Primary source
    HGNC:HGNC:16097
    See related
    Ensembl:ENSG00000125869 MIM:614641; AllianceGenome:HGNC:16097
    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-5; UNC-46; BADLAMP; BAD-LAMP; C20orf103
    Summary
    Predicted to be involved in establishment of protein localization to organelle. Located in endoplasmic reticulum-Golgi intermediate compartment membrane; endosome membrane; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 17.1), ovary (RPKM 10.7) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LAMP5 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (9514590..9530524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (9557493..9573427)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (9495237..9511171)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372522 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:9031646-9032845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:9055836-9056336 Neighboring gene Sharpr-MPRA regulatory region 7247 Neighboring gene phospholipase C beta 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9160877-9161492 Neighboring gene MPRA-validated peak4143 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:9496172-9496756 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9499300-9500006 Neighboring gene LAMP5 antisense RNA 1 Neighboring gene uncharacterized LOC105372523 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:9553223-9553723 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9557290-9557799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17538 Neighboring gene uncharacterized LOC101929348 Neighboring gene p21 (RAC1) activated kinase 5

    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. Lysosomal-associated membrane protein family member 5 promotes the metastatic potential of gastric cancer cells. Umeda S, et al. Gastric Cancer, 2022 May. PMID 35226222
    2. Activation of the Lysosome-Associated Membrane Protein LAMP5 by DOT1L Serves as a Bodyguard for MLL Fusion Oncoproteins to Evade Degradation in Leukemia. Wang WT, et al. Clin Cancer Res, 2019 May 1. PMID 30651276
    3. BAD-LAMP controls TLR9 trafficking and signalling in human plasmacytoid dendritic cells. Combes A, et al. Nat Commun, 2017 Oct 13. PMID 29030552, Free PMC Article
    4. BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells. Defays A, et al. Blood, 2011 Jul 21. PMID 21642595
    5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lysosomal-associated membrane protein family member 5 promotes the metastatic potential of gastric cancer cells.
      Title: Lysosomal-associated membrane protein family member 5 promotes the metastatic potential of gastric cancer cells.
    2. High LAMP5 expression is associated with Leukemia.
      Title: Activation of the Lysosome-Associated Membrane Protein LAMP5 by DOT1L Serves as a Bodyguard for MLL Fusion Oncoproteins to Evade Degradation in Leukemia.
    3. BAD-LAMP (LAMP5)-silencing enhances TLR9 retention in endolysosome compartment and consequent downstream signalling events.
      Title: BAD-LAMP controls TLR9 trafficking and signalling in human plasmacytoid dendritic cells.
    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)

    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 establishment of protein localization to organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendrite membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in growth cone membrane ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    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 recycling endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    lysosome-associated membrane glycoprotein 5
    Names
    LAMP family protein C20orf103
    brain and dendritic cell-associated LAMP
    brain-associated LAMP-like protein
    lysosome-associated membrane protein 5

    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_001199897.2 → NP_001186826.1  lysosome-associated membrane glycoprotein 5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001186826.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK316114, AL031652, BC050727
      Consensus CDS
      CCDS56177.1
      UniProtKB/Swiss-Prot
      Q9UJQ1
      Related
      ENSP00000406360.1, ENST00000427562.6
      Conserved Domains (1) summary
      pfam01299
      Location:40 → 185
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    2. NM_012261.4 → NP_036393.1  lysosome-associated membrane glycoprotein 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_036393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL031652, BC050727
      Consensus CDS
      CCDS13106.1
      UniProtKB/Swiss-Prot
      B4DHZ7, B7Z9Z9, Q9UJQ1
      Related
      ENSP00000246070.2, ENST00000246070.3
      Conserved Domains (1) summary
      pfam01299
      Location:40 → 229
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      9514590..9530524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      9557493..9573427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJQ1.1 GenPept UniProtKB/Swiss-Prot:Q9UJQ1

    Gene LinkOut

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

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