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

Gene ID: 27074, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000158387
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

Genomic context

See LAMP3 in Genome Data Viewer
Location:
3q27.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (183122215..183162879, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182840003..182880667, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene methylcrotonoyl-CoA carboxylase 1 Neighboring gene uncharacterized LOC105374247 Neighboring gene small nucleolar RNA, C/D box 3 pseudogene 4 Neighboring gene MCF.2 cell line derived transforming sequence-like 2 Neighboring gene RNA, 5S ribosomal pseudogene 151 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_014398.3NP_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
    Q9UQV4
    Related
    ENSP00000265598.3, OTTHUMP00000212868, ENST00000265598.7, OTTHUMT00000350863
    Conserved Domains (1) summary
    pfam01299
    Location:101416
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    183122215..183162879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247360.5XP_005247417.1  lysosome-associated membrane glycoprotein 3 isoform X1

    Conserved Domains (1) summary
    pfam01299
    Location:101418
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
  2. XM_006713586.3XP_006713649.1  lysosome-associated membrane glycoprotein 3 isoform X2

    Conserved Domains (1) summary
    pfam01299
    Location:77394
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
  3. XM_024453453.1XP_024309221.1  lysosome-associated membrane glycoprotein 3 isoform X2

    Conserved Domains (1) summary
    pfam01299
    Location:77394
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
  4. XM_011512688.2XP_011510990.1  lysosome-associated membrane glycoprotein 3 isoform X3

    Conserved Domains (1) summary
    pfam01299
    Location:101314
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
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