LAMP5 (lysosomal associated membrane protein family member 5)

Gene

• Entrez ID: 24141
• Gene name: Lysosomal associated membrane protein family member 5
• Gene symbol: LAMP5
• Synonyms (NCBI Gene): BAD-LAMP, BADLAMP, C20orf103, LAMP-5, UNC-46
• Chromosome: 20
• Chromosome location: 20p12.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054109	hsa-miR-1202	Microarray	22995316

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21642595
GO:0005886	Component	Plasma membrane	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0010008	Component	Endosome membrane	IDA	21642595
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0031902	Component	Late endosome membrane	IBA
GO:0032584	Component	Growth cone membrane	IEA
GO:0032584	Component	Growth cone membrane	ISS
GO:0032590	Component	Dendrite membrane	IEA
GO:0032590	Component	Dendrite membrane	ISS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IDA	21642595
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0072594	Process	Establishment of protein localization to organelle	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

Other IDs

• MIM: 614641
• HGNC: 16097
• e!Ensembl: ENSG00000125869

Protein

• UniProt ID: Q9UJQ1
• Protein name: Lysosome-associated membrane glycoprotein 5 (Brain and dendritic cell-associated LAMP) (Brain-associated LAMP-like protein) (BAD-LAMP) (Lysosome-associated membrane protein 5) (LAMP-5)
• Protein function: Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01299	Lamp	43 → 214	Lysosome-associated membrane glycoprotein (Lamp)	Family

• Tissue specificity: 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. {ECO:0000269|
• Sequence:

  MDLQGRGVPSIDRLRVLLMLFHTMAQIMAEQEVENLSGLSTNPEKDIFVVRENGTTCLMA
  EFAAKFIVPYDVWASNYVDLITEQADIALTRGAEVKGRCGHSQSELQVFWVDRAYALKML
  FVKESHNMSKGPEATWRLSKVQFVYDSSEKTHFKDAVSAGKHTANSHHLSALVTPAGKSY
  ECQAQQTISLASSDPQKTVTMILSAVHIQPFDIISDFVFSEEHKCPVDEREQLEETLPLI
  LGLILGLVIMVTLAIYHVHHKMTANQVQIPRDRSQYKHMG

• Sequence length: 280

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30537927	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21642595, 33910331	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30651276		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31811114	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31811114		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29526252		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29030552		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37033323	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36232882	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	32597194	Associate	★☆☆☆☆ Found in Text Mining only