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Protein

Lysosome-associated membrane glycoprotein 5

Gene

LAMP5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Miscellaneous

Appears to be a novel specific biomarker for blastic plasmocytoid dendritic cells neoplasia.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosome-associated membrane glycoprotein 5
Alternative name(s):
Brain and dendritic cell-associated LAMP
Brain-associated LAMP-like protein
Short name:
BAD-LAMP
Lysosome-associated membrane protein 5
Short name:
LAMP-5
Gene namesi
Name:LAMP5
Synonyms:C20orf103
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125869.9
HGNCiHGNC:16097 LAMP5
MIMi614641 gene
neXtProtiNX_Q9UJQ1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini30 – 235ExtracellularSequence analysisAdd BLAST206
Transmembranei236 – 256HelicalSequence analysisAdd BLAST21
Topological domaini257 – 280CytoplasmicSequence analysisAdd BLAST24

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, Endosome, Membrane, Synapse

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi276Y → A: Cell surface localization. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000125869
PharmGKBiPA25643

Polymorphism and mutation databases

BioMutaiLAMP5
DMDMi26392602

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000002103130 – 280Lysosome-associated membrane glycoprotein 5Add BLAST251

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi35N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UJQ1
PeptideAtlasiQ9UJQ1
PRIDEiQ9UJQ1
ProteomicsDBi84637
84638 [Q9UJQ1-2]

PTM databases

iPTMnetiQ9UJQ1
PhosphoSitePlusiQ9UJQ1

Expressioni

Tissue specificityi

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.1 Publication

Inductioni

Up-regulated upon CpG dinucleotides activation. Down-regulated upon activation by Toll-like receptor (TLR) ligands.1 Publication

Gene expression databases

BgeeiENSG00000125869
CleanExiHS_C20orf103
GenevisibleiQ9UJQ1 HS

Organism-specific databases

HPAiHPA004802
HPA070765

Structurei

3D structure databases

ProteinModelPortaliQ9UJQ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LAMP family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE1D Eukaryota
ENOG410YUG5 LUCA
GeneTreeiENSGT00390000012584
HOGENOMiHOG000231912
HOVERGENiHBG051186
InParanoidiQ9UJQ1
OMAiIYHIHHK
OrthoDBiEOG091G0O9R
PhylomeDBiQ9UJQ1
TreeFamiTF330776

Family and domain databases

InterProiView protein in InterPro
IPR002000 Lysosome-assoc_membr_glycop
PANTHERiPTHR11506 PTHR11506, 1 hit
PfamiView protein in Pfam
PF01299 Lamp, 1 hit
PROSITEiView protein in PROSITE
PS00310 LAMP_1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UJQ1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDLQGRGVPS IDRLRVLLML FHTMAQIMAE QEVENLSGLS TNPEKDIFVV
60 70 80 90 100
RENGTTCLMA EFAAKFIVPY DVWASNYVDL ITEQADIALT RGAEVKGRCG
110 120 130 140 150
HSQSELQVFW VDRAYALKML FVKESHNMSK GPEATWRLSK VQFVYDSSEK
160 170 180 190 200
THFKDAVSAG KHTANSHHLS ALVTPAGKSY ECQAQQTISL ASSDPQKTVT
210 220 230 240 250
MILSAVHIQP FDIISDFVFS EEHKCPVDER EQLEETLPLI LGLILGLVIM
260 270 280
VTLAIYHVHH KMTANQVQIP RDRSQYKHMG
Length:280
Mass (Da):31,472
Last modified:May 1, 2000 - v1
Checksum:i7D811D7C04EE70B8
GO
Isoform 2 (identifier: Q9UJQ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-123: Missing.

Show »
Length:236
Mass (Da):26,510
Checksum:i4489CABA71A9D97E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti251V → A in BAG58309 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01440112D → G. Corresponds to variant dbSNP:rs2232259Ensembl.1
Natural variantiVAR_01440281I → V. Corresponds to variant dbSNP:rs2232263Ensembl.1
Natural variantiVAR_014403103Q → E. Corresponds to variant dbSNP:rs2232264Ensembl.1
Natural variantiVAR_014404158S → G. Corresponds to variant dbSNP:rs2232266Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03718680 – 123Missing in isoform 2. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121740 mRNA Translation: CAB57330.1
AK295336 mRNA Translation: BAG58309.1
AK316114 mRNA Translation: BAH14485.1
AL031652 Genomic DNA No translation available.
BC050727 mRNA Translation: AAH50727.1
CCDSiCCDS13106.1 [Q9UJQ1-1]
CCDS56177.1 [Q9UJQ1-2]
RefSeqiNP_001186826.1, NM_001199897.1 [Q9UJQ1-2]
NP_036393.1, NM_012261.3 [Q9UJQ1-1]
UniGeneiHs.22920

Genome annotation databases

EnsembliENST00000246070; ENSP00000246070; ENSG00000125869 [Q9UJQ1-1]
ENST00000427562; ENSP00000406360; ENSG00000125869 [Q9UJQ1-2]
GeneIDi24141
KEGGihsa:24141
UCSCiuc002wni.3 human [Q9UJQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLAMP5_HUMAN
AccessioniPrimary (citable) accession number: Q9UJQ1
Secondary accession number(s): B4DHZ7, B7Z9Z9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: May 1, 2000
Last modified: June 20, 2018
This is version 122 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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