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

Gene ID: 24141, updated on 23-Nov-2023

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, Apr 2022]
Expression
Biased expression in brain (RPKM 17.1), ovary (RPKM 10.7) and 6 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (9514590..9530524)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (9557493..9573427)
105.20220307 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 (11) 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)

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

Process Evidence Code Pubs
involved_in establishment of protein localization to organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
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_2023_10

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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