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] See more...

Aliases for LAMP3 Gene

Aliases for LAMP3 Gene

  • Lysosomal Associated Membrane Protein 3 2 3 5
  • DC-Lysosome-Associated Membrane Glycoprotein 3 4
  • Lysosome-Associated Membrane Glycoprotein 3 3 4
  • Lysosomal-Associated Membrane Protein 3 2 4
  • DC LAMP 3 4
  • DCLAMP 3 4
  • LAMP-3 3 4
  • TSC403 3 4
  • Protein TSC403 4
  • CD208 Antigen 4
  • DC-LAMP 3
  • CD208 3
  • LAMP 3

External Ids for LAMP3 Gene

Previous GeneCards Identifiers for LAMP3 Gene

  • GC03M179608
  • GC03M183695
  • GC03M184242
  • GC03M184160
  • GC03M184322
  • GC03M182840
  • GC03M180244

Summaries for LAMP3 Gene

Entrez Gene Summary for LAMP3 Gene

  • 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]

GeneCards Summary for LAMP3 Gene

LAMP3 (Lysosomal Associated Membrane Protein 3) is a Protein Coding gene. Diseases associated with LAMP3 include Syndromic Oculocutaneous Albinism. Among its related pathways are Lysosome.

UniProtKB/Swiss-Prot Summary for LAMP3 Gene

Gene Wiki entry for LAMP3 Gene

Additional gene information for LAMP3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMP3 Gene

Genomics for LAMP3 Gene

GeneHancer (GH) Regulatory Elements for LAMP3 Gene

Promoters and enhancers for LAMP3 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
GH03J183161 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 510 +1.3 1339 1.8 ZBTB40 SIN3A NRF1 SP1 TEAD4 EP300 ZIC2 TCF7 ZBTB26 TARDBP LAMP3 lnc-MCF2L2-1 RF00017-4186
GH03J183169 Promoter/Enhancer 0.6 EPDnew FANTOM5 516.9 -5.9 -5881 0.2 LAMP3 piR-32325-107 MCCC1 MCF2L2 YEATS2 B3GNT5 KLHL6 SNORD3P4 RF00012-034
GH03J183098 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +64.4 64439 2.8 FOXK2 ZNF217 EP300 SIN3A NRF1 MYC POLR2G USF1 SP1 GTF2E2 MCCC1 LAMP3 lnc-LAMP3-2 piR-39099-175
GH03J183446 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 9.9 -284.7 -284662 3.8 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G SP1 BCLAF1 GTF2E2 PHF8 LINC00888 ENSG00000271682 YEATS2 LAMP3 YEATS2-AS1 SNORA63D
GH03J183123 Enhancer 0.8 Ensembl ENCODE 21.5 +41.6 41638 1.2 CTCF REST RAD21 TRIM22 SMC3 FOS ZNF654 ZNF384 GATA2 JUN LAMP3 MCCC1 RNA5SP151 B3GNT5 MCF2L2 RF00017-4186
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMP3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMP3

Top Transcription factor binding sites by QIAGEN in the LAMP3 gene promoter:
  • HNF-1
  • HNF-1A
  • IRF-1
  • LCR-F1
  • NCX
  • p53
  • SEF-1 (1)
  • Sox5
  • TBP
  • ZID

Genomic Locations for LAMP3 Gene

Genomic Locations for LAMP3 Gene
chr3:183,122,215-183,163,839
(GRCh38/hg38)
Size:
41,625 bases
Orientation:
Minus strand
chr3:182,840,001-182,881,627
(GRCh37/hg19)
Size:
41,627 bases
Orientation:
Minus strand

Genomic View for LAMP3 Gene

Genes around LAMP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMP3 Gene

Proteins for LAMP3 Gene

  • Protein details for LAMP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQV4-LAMP3_HUMAN
    Recommended name:
    Lysosome-associated membrane glycoprotein 3
    Protein Accession:
    Q9UQV4
    Secondary Accessions:
    • D3DNS4
    • O94781
    • Q8NEC8

    Protein attributes for LAMP3 Gene

    Size:
    416 amino acids
    Molecular mass:
    44346 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for LAMP3 Gene

neXtProt entry for LAMP3 Gene

Post-translational modifications for LAMP3 Gene

  • Glycosylation at Ser37, Thr40, Thr44, Thr74, Thr77, Thr80, Asn112, Asn158, Asn164, Asn200, Asn232, Asn266, and Asn291
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMP3 Gene

No data available for DME Specific Peptides for LAMP3 Gene

Domains & Families for LAMP3 Gene

Gene Families for LAMP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LAMP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMP3 Gene

GenScript: Design optimal peptide antigens:
  • Protein TSC403 (LAMP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQV4

UniProtKB/Swiss-Prot:

LAMP3_HUMAN :
  • Belongs to the LAMP family.
Family:
  • Belongs to the LAMP family.
genes like me logo Genes that share domains with LAMP3: view

Function for LAMP3 Gene

Molecular function for LAMP3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in dendritic cell function and in adaptive immunity.

Phenotypes From GWAS Catalog for LAMP3 Gene

genes like me logo Genes that share phenotypes with LAMP3: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LAMP3 Gene

Localization for LAMP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMP3 Gene

Lysosome membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Note=During dendritic cell maturation, detected on cytoplasmic vesicles (the MHC II compartment) that contain MHC II proteins, LAMP1, LAMP2 and LAMP3 (PubMed:9768752). Detected on lysosomes in mature dendritic cells (PubMed:9768752). {ECO:0000269 PubMed:9768752}.

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 LAMP3 gene
Compartment Confidence
plasma membrane 5
endosome 4
lysosome 4
extracellular 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LAMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IBA,IEA 21873635
GO:0005769 early endosome IDA 21810281
GO:0005886 plasma membrane IDA 21810281
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LAMP3: view

Pathways & Interactions for LAMP3 Gene

PathCards logo

SuperPathways for LAMP3 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with LAMP3: view

Pathways by source for LAMP3 Gene

1 KEGG pathway for LAMP3 Gene

Gene Ontology (GO) - Biological Process for LAMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0010506 regulation of autophagy IMP 25681212
GO:0010628 positive regulation of gene expression IMP 23651994
GO:0035455 response to interferon-alpha IMP 23651994
genes like me logo Genes that share ontologies with LAMP3: view

No data available for SIGNOR curated interactions for LAMP3 Gene

Drugs & Compounds for LAMP3 Gene

(1) Drugs for LAMP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LAMP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMP3: view

Transcripts for LAMP3 Gene

mRNA/cDNA for LAMP3 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMP3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for LAMP3 Gene

GeneLoc Exon Structure for
LAMP3

Expression for LAMP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAMP3 Gene

This gene is overexpressed in Lung (x23.0).

Protein differential expression in normal tissues from HIPED for LAMP3 Gene

This gene is overexpressed in Lung (46.7) and Lymph node (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LAMP3 Gene



Protein tissue co-expression partners for LAMP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMP3

SOURCE GeneReport for Unigene cluster for LAMP3 Gene:

Hs.518448

mRNA Expression by UniProt/SwissProt for LAMP3 Gene:

Q9UQV4-LAMP3_HUMAN
Tissue specificity: Detected in tonsil interdigitating dendritic cells, in spleen, lymph node, Peyer's patches in the small instestine, in thymus medulla and in B-cells (at protein level). Expressed in lymphoid organs and dendritic cells. Expressed in lung. Up-regulated in carcinomas of the esophagus, colon, rectum, ureter, stomach, breast, fallopian tube, thyroid and parotid tissues.

Evidence on tissue expression from TISSUES for LAMP3 Gene

  • Lung(4.7)
  • Lymph node(3.3)
  • Spleen(2.9)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with LAMP3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMP3 Gene

Orthologs for LAMP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMP3 31 30
  • 93.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMP3 30
  • 81.04 (n)
cow
(Bos Taurus)
Mammalia LAMP3 31 30
  • 72.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lamp3 17 31 30
  • 71.71 (n)
rat
(Rattus norvegicus)
Mammalia Lamp3 30
  • 71.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LAMP3 31
  • 44 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LAMP3 31
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMP3 31
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMP3 31
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamp3 30
  • 46.93 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100003043 30
  • 49.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lamp1 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
ManyToMany
-- 31
  • 15 (a)
ManyToMany
Species where no ortholog for LAMP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 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)

Evolution for LAMP3 Gene

ENSEMBL:
Gene Tree for LAMP3 (if available)
TreeFam:
Gene Tree for LAMP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMP3: view image

Paralogs for LAMP3 Gene

No data available for Paralogs for LAMP3 Gene

Variants for LAMP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMP3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1553873737 Uncertain Significance: not provided 183,124,158(-) CCA/C FRAMESHIFT_VARIANT
rs17853113 - p.Glu32Gly
rs482912 - p.Ile318Val

Additional dbSNP identifiers (rs#s) for LAMP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for LAMP3 Gene

Variant ID Type Subtype PubMed ID
dgv960e214 CNV gain 21293372
esv3893833 CNV gain 25118596
nsv507143 OTHER sequence alteration 20534489
nsv508970 CNV insertion 20534489

Variation tolerance for LAMP3 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMP3 Gene

Disorders for LAMP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAMP3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
syndromic oculocutaneous albinism
- elite association - COSMIC cancer census association via MalaCards
Search LAMP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LAMP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LAMP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMP3 Gene

Publications for LAMP3 Gene

  1. A novel lysosome-associated membrane glycoprotein, DC-LAMP, induced upon DC maturation, is transiently expressed in MHC class II compartment. (PMID: 9768752) de Saint-Vis B … Lebecque S (Immunity 1998) 3 4 23 54
  2. Isolation and characterization of a novel human lung-specific gene homologous to lysosomal membrane glycoproteins 1 and 2: significantly increased expression in cancers of various tissues. (PMID: 9721848) Ozaki K … Nakamura Y (Cancer research 1998) 2 3 4 54
  3. Crystal structure of the conserved domain of the DC lysosomal associated membrane protein: implications for the lysosomal glycocalyx. (PMID: 22809326) Wilke S … Büssow K (BMC biology 2012) 3 4 54
  4. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 41 54
  5. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PMID: 21254220) Jiang Y … Zhang H (Genetic epidemiology 2011) 3 41 54

Products for LAMP3 Gene

Sources for LAMP3 Gene