Aliases for LAMP5 Gene

Aliases for LAMP5 Gene

  • Lysosomal Associated Membrane Protein Family Member 5 2 3 5
  • BAD-LAMP 2 3 4
  • Lysosome-Associated Membrane Glycoprotein 5 3 4
  • Brain And Dendritic Cell-Associated LAMP 3 4
  • Lysosome-Associated Membrane Protein 5 3 4
  • Brain-Associated LAMP-Like Protein 3 4
  • C20orf103 3 4
  • LAMP-5 3 4
  • UNC-46 2 3
  • Lysosomal-Associated Membrane Protein Family, Member 5 2
  • Brain And Dendritic Cell Associated LAMP 2
  • Chromosome 20 Open Reading Frame 103 2
  • LAMP Family Protein C20orf103 3
  • DJ1119D9.3 2
  • BADLAMP 3
  • LAMP5 5

External Ids for LAMP5 Gene

Previous HGNC Symbols for LAMP5 Gene

  • C20orf103

Previous GeneCards Identifiers for LAMP5 Gene

  • GC20P009495

Summaries for LAMP5 Gene

GeneCards Summary for LAMP5 Gene

LAMP5 (Lysosomal Associated Membrane Protein Family Member 5) is a Protein Coding gene. Diseases associated with LAMP5 include Epiphyseal Dysplasia, Multiple, 4 and Spinal Muscular Atrophy, Type Ii. An important paralog of this gene is LAMP1.

UniProtKB/Swiss-Prot Summary for LAMP5 Gene

  • Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain.

Additional gene information for LAMP5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMP5 Gene

Genomics for LAMP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAMP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J009514 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 608.7 +0.9 943 1.8 REST EZH2 TCF12 ZBTB48 ZBTB26 ZBTB17 CBX2 ZNF335 RCOR1 SIN3A LAMP5 LAMP5-AS1 ENSG00000286740 PAK5
GH20J009516 Promoter/Enhancer 0.7 EPDnew dbSUPER 600.7 -0.1 -86 0.1 ZBTB48 CBX2 EZH2 LAMP5 LAMP5-AS1 HSALNG0128587 PLCB4
GH20J009457 Enhancer 0.7 FANTOM5 Ensembl 17.3 -56.7 -56658 3 CTCF ARID3A RAD21 XRCC5 SMC3 LAMP5 LAMP5-AS1 piR-48222-201 lnc-PAK5-2 PLCB4
GH20J009616 Enhancer 1 Ensembl ENCODE 10.8 +102.0 102015 2.3 GATAD2A CTCF NFKBIZ REST RAD21 TCF12 IRF2 IKZF2 SP1 TRIM22 LAMP5 LAMP5-AS1 LOC101929348 HSALNG0128590 LOC105372523 PAK5
GH20J009397 Enhancer 0.6 FANTOM5 Ensembl 11 -114.4 -114443 8.2 PKNOX1 SPI1 HLF ZNF133 lnc-PAK5-2 LAMP5 LAMP5-AS1 PLCB4 piR-48222-201
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMP5

Genomic Locations for LAMP5 Gene

Genomic Locations for LAMP5 Gene
chr20:9,514,358-9,530,524
(GRCh38/hg38)
Size:
16,167 bases
Orientation:
Plus strand
chr20:9,495,005-9,511,171
(GRCh37/hg19)
Size:
16,167 bases
Orientation:
Plus strand

Genomic View for LAMP5 Gene

Genes around LAMP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMP5 Gene

Proteins for LAMP5 Gene

  • Protein details for LAMP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJQ1-LAMP5_HUMAN
    Recommended name:
    Lysosome-associated membrane glycoprotein 5
    Protein Accession:
    Q9UJQ1
    Secondary Accessions:
    • B4DHZ7
    • B7Z9Z9

    Protein attributes for LAMP5 Gene

    Size:
    280 amino acids
    Molecular mass:
    31472 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Appears to be a novel specific biomarker for blastic plasmocytoid dendritic cells neoplasia.

    Alternative splice isoforms for LAMP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMP5 Gene

Post-translational modifications for LAMP5 Gene

Other Protein References for LAMP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LAMP5 Gene

Domains & Families for LAMP5 Gene

Gene Families for LAMP5 Gene

Protein Domains for LAMP5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMP5 Gene

GenScript: Design optimal peptide antigens:
  • LAMP family protein C20orf103 (CT103_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJQ1

UniProtKB/Swiss-Prot:

LAMP5_HUMAN :
  • Belongs to the LAMP family.
Family:
  • Belongs to the LAMP family.
genes like me logo Genes that share domains with LAMP5: view

Function for LAMP5 Gene

Molecular function for LAMP5 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon CpG dinucleotides activation. Down-regulated upon activation by Toll-like receptor (TLR) ligands.
GENATLAS Biochemistry:
lysosomal-associated multispanning membrane protein,preferentially expressed in hematopoietic cell

Phenotypes From GWAS Catalog for LAMP5 Gene

genes like me logo Genes that share phenotypes with LAMP5: view

Animal Model Products

CRISPR Products

miRNA for LAMP5 Gene

miRTarBase miRNAs that target LAMP5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMP5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LAMP5 Gene

Localization for LAMP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMP5 Gene

Cell membrane. Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Single-pass type I membrane protein. Endosome membrane. Single-pass type I membrane protein. Cytoplasmic vesicle membrane. Single-pass type I membrane protein. Cell projection, dendrite. Cell projection, growth cone membrane. Single-pass type I membrane protein. Early endosome membrane. Single-pass type I membrane protein. Recycling endosome. Note=Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity). Colocalizes with UNC93B1 in large endosomal intracellular vesicles (PubMed:21642595). Accumulates in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides (PubMed:21642595). Associates with cortical membranes (PubMed:21642595). Localizes mostly in cytoplasmic vesicles of neuronal cell body (By similarity). Localizes to synaptic vesicles in a subset of GABAergic neurons (By similarity). {ECO:0000250 UniProtKB:Q9D387, ECO:0000269 PubMed:21642595}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMP5 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 4
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (1)
  • Cytosol (1)
  • Mitotic spindle (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IBA 21873635
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IBA,IDA 21642595
genes like me logo Genes that share ontologies with LAMP5: view

Pathways & Interactions for LAMP5 Gene

PathCards logo

SuperPathways for LAMP5 Gene

No Data Available

Interacting Proteins for LAMP5 Gene

Gene Ontology (GO) - Biological Process for LAMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072594 establishment of protein localization to organelle IBA 21873635
genes like me logo Genes that share ontologies with LAMP5: view

No data available for Pathways by source and SIGNOR curated interactions for LAMP5 Gene

Drugs & Compounds for LAMP5 Gene

No Compound Related Data Available

Transcripts for LAMP5 Gene

mRNA/cDNA for LAMP5 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMP5

Alternative Splicing Database (ASD) splice patterns (SP) for LAMP5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for LAMP5 Gene

GeneLoc Exon Structure for
LAMP5

Expression for LAMP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMP5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x16.3), Brain - Caudate (basal ganglia) (x8.9), and Brain - Putamen (basal ganglia) (x8.4).

Protein differential expression in normal tissues from HIPED for LAMP5 Gene

This gene is overexpressed in Retina (33.3), Ovary (17.3), Brain (8.6), and Frontal cortex (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LAMP5 Gene



Protein tissue co-expression partners for LAMP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMP5

SOURCE GeneReport for Unigene cluster for LAMP5 Gene:

Hs.22920

mRNA Expression by UniProt/SwissProt for LAMP5 Gene:

Q9UJQ1-LAMP5_HUMAN
Tissue specificity: Expressed in plasmocytoid dendritic cells. Expressed in suprabasal skin keratinocytes and squamous cells (at protein level). Expressed in the brain and weakly in spleen and skin. Expressed in plasmocytoid dendritic cells.

Evidence on tissue expression from TISSUES for LAMP5 Gene

  • Nervous system(4.8)
  • Blood(2.3)
  • Lymph node(2.1)
  • Spleen(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with LAMP5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMP5 Gene

Orthologs for LAMP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LAMP5 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAMP5 30 31
  • 90.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LAMP5 30 31
  • 90.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LAMP5 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lamp5 30
  • 87.02 (n)
Mouse
(Mus musculus)
Mammalia Lamp5 30 17 31
  • 85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LAMP5 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LAMP5 31
  • 75 (a)
OneToOne
C3H20ORF103 30
  • 74 (n)
Lizard
(Anolis carolinensis)
Reptilia LAMP5 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lamp5 30
  • 63.86 (n)
Str.12939 30
Species where no ortholog for LAMP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for LAMP5 Gene

ENSEMBL:
Gene Tree for LAMP5 (if available)
TreeFam:
Gene Tree for LAMP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMP5: view image

Paralogs for LAMP5 Gene

Paralogs for LAMP5 Gene

genes like me logo Genes that share paralogs with LAMP5: view

Variants for LAMP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMP5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs2232259 - p.Asp12Gly
rs2232263 - p.Ile81Val
rs2232264 - p.Gln103Glu
rs2232266 - p.Ser158Gly

Additional dbSNP identifiers (rs#s) for LAMP5 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAMP5 Gene

Variant ID Type Subtype PubMed ID
esv2722167 CNV deletion 23290073

Variation tolerance for LAMP5 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMP5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMP5 Gene

Disorders for LAMP5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LAMP5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search LAMP5 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with LAMP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMP5 Gene

Publications for LAMP5 Gene

  1. BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells. (PMID: 21642595) Defays A … Pierre P (Blood 2011) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Activation of the Lysosome-Associated Membrane Protein LAMP5 by DOT1L Serves as a Bodyguard for MLL Fusion Oncoproteins to Evade Degradation in Leukemia. (PMID: 30651276) Wang WT … Chen YQ (Clinical cancer research : an official journal of the American Association for Cancer Research 2019) 3
  5. BAD-LAMP controls TLR9 trafficking and signalling in human plasmacytoid dendritic cells. (PMID: 29030552) Combes A … Gatti E (Nature communications 2017) 3

Products for LAMP5 Gene

Sources for LAMP5 Gene