• Gene id: 27074

Gene Summary

• Gene Symbol: LAMP3   Gene   UCSC   Ensembl
• Aliases: CD208, DC LAMP, DC-LAMP, DCLAMP, LAMP, LAMP-3, TSC403
• Gene name: lysosomal associated membrane protein 3
• Alternate names: lysosome-associated membrane glycoprotein 3, DC-lysosome-associated membrane glycoprotein,
• Gene location: 3q27.1 (24054955: 24078809)     Exons: 12     NC_000023.11
• Gene summary(Entrez): 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 e
• OMIM: 605883

Protein Summary

• Protein general information: Q9UQV4  
  • Name: Lysosome associated membrane glycoprotein 3 (LAMP 3) (Lysosomal associated membrane protein 3) (DC lysosome associated membrane glycoprotein) (DC LAMP) (Protein TSC403) (CD antigen CD208)
  • Length: 416  
  • Mass: 44346
  • 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 lun
• Sequence:

  MPRQLSAAAALFASLAVILHDGSQMRAKAFPETRDYSQPTAAATVQDIKKPVQQPAKQAPHQTLAARFMDGHITF
  QTAATVKIPTTTPATTKNTATTSPITYTLVTTQATPNNSHTAPPVTEVTVGPSLAPYSLPPTITPPAHTTGTSSS
  TVSHTTGNTTQPSNQTTLPATLSIALHKSTTGQKPVQPTHAPGTTAAAHNTTRTAAPASTVPGPTLAPQPSSVKT
  GIYQVLNGSRLCIKAEMGIQLIVQDKESVFSPRRYFNIDPNATQASGNCGTRKSNLLLNFQGGFVNLTFTKDEES
  YYISEVGAYLTVSDPETIYQGIKHAVVMFQTAVGHSFKCVSEQSLQLSAHLQVKTTDVQLQAFDFEDDHFGNVDE
  CSSDYTIVLPVIGAIVVGLCLMGMGVYKIRLRCQSSGYQRI

• Structural information:
  • Interpro: IPR002000  
  • Prosite: PS51407
  • PDB: 4AKM
  • PDBsum: 4AKM
  • STRING: ENSP00000265598
• Other Databases: GeneCards:  LAMP3  Malacards:  LAMP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0035455	response to interferon-alpha	IMP	biological process
GO:0097233	alveolar lamellar body membrane	ISS	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0010506	regulation of autophagy	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:1903900	regulation of viral life cycle	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:1901799	negative regulation of proteasomal protein catabolic process	IMP	biological process
GO:0046718	viral entry into host cell	IMP	NOT|biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0031902	late endosome membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0072594	establishment of protein localization to organelle	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray