Q9UJQ1 (LAMP5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	LAMP5
Synonyms:	C20orf103

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	280 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cytoplasmic vesicle By similarity. Cell projection › dendrite By similarity. Cell projection › growth cone membrane; Single-pass type I membrane protein By similarity. Early endosome membrane; Single-pass type I membrane protein By similarity. Recycling endosome By similarity. Note: Localized mostly in cytoplasmic vesicles of neuronal cell body. Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane By similarity. Colocalizes with UNC93B1 in large endosomal intracellular vesicles. Accumulates in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides. Associates with cortical membranes. Ref.5
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. Ref.5
Induction	Up-regulated upon CpG dinucleotides activation. Down-regulated upon activation by Toll-like receptor (TLR) ligands. Ref.5
Post-translational modification	Glycosylated By similarity.
Miscellaneous	Appears to be a novel specific biomarker for blastic plasmocytoid dendritic cells neoplasia (Ref.5).
Sequence similarities	Belongs to the LAMP family.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Cytoplasmic vesicle Endosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasmic vesicle membrane Inferred from sequence or structural similarity. Source: UniProtKB dendrite Inferred from electronic annotation. Source: UniProtKB-SubCell dendrite membrane Inferred from sequence or structural similarity. Source: UniProtKB early endosome membrane Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum-Golgi intermediate compartment membrane Inferred from direct assay Ref.5. Source: UniProtKB growth cone membrane Inferred from sequence or structural similarity. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW recycling endosome membrane Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UJQ1-1)

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.

Isoform 2 (identifier: Q9UJQ1-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 29	29	Potential
	Chain	30 – 280	251	Lysosome-associated membrane glycoprotein 5		PRO_0000021031
Regions
	Topological domain	30 – 235	206	Extracellular Potential
	Transmembrane	236 – 256	21	Helical; Potential
	Topological domain	257 – 280	24	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	35	1	N-linked (GlcNAc...) Potential
	Glycosylation	53	1	N-linked (GlcNAc...) Potential
	Glycosylation	127	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	80 – 123	44	Missing in isoform 2.		VSP_037186
	Natural variant	12	1	D → G. Corresponds to variant rs2232259 [ dbSNP | Ensembl ].		VAR_014401
	Natural variant	81	1	I → V. Corresponds to variant rs2232263 [ dbSNP | Ensembl ].		VAR_014402
	Natural variant	103	1	Q → E. Corresponds to variant rs2232264 [ dbSNP | Ensembl ].		VAR_014403
	Natural variant	158	1	S → G. Corresponds to variant rs2232266 [ dbSNP | Ensembl ].		VAR_014404
Experimental info
	Mutagenesis	276	1	Y → A: Cell surface localization. Ref.5
	Sequence conflict	251	1	V → A in BAG58309. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 7D811D7C04EE70B8	FASTA	280	31,472
	10 20 30 40 50 60 MDLQGRGVPS IDRLRVLLML FHTMAQIMAE QEVENLSGLS TNPEKDIFVV RENGTTCLMA 70 80 90 100 110 120 EFAAKFIVPY DVWASNYVDL ITEQADIALT RGAEVKGRCG HSQSELQVFW VDRAYALKML 130 140 150 160 170 180 FVKESHNMSK GPEATWRLSK VQFVYDSSEK THFKDAVSAG KHTANSHHLS ALVTPAGKSY 190 200 210 220 230 240 ECQAQQTISL ASSDPQKTVT MILSAVHIQP FDIISDFVFS EEHKCPVDER EQLEETLPLI 250 260 270 280 LGLILGLVIM VTLAIYHVHH KMTANQVQIP RDRSQYKHMG
	Isoform 2 [UniParc]. Checksum: 4489CABA71A9D97E	FASTA	236	26,510
	10 20 30 40 50 60 MDLQGRGVPS IDRLRVLLML FHTMAQIMAE QEVENLSGLS TNPEKDIFVV RENGTTCLMA 70 80 90 100 110 120 EFAAKFIVPY DVWASNYVDE SHNMSKGPEA TWRLSKVQFV YDSSEKTHFK DAVSAGKHTA 130 140 150 160 170 180 NSHHLSALVT PAGKSYECQA QQTISLASSD PQKTVTMILS AVHIQPFDII SDFVFSEEHK 190 200 210 220 230 CPVDEREQLE ETLPLILGLI LGLVIMVTLA IYHVHHKMTA NQVQIPRDRS QYKHMG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Stavrides G.S., Huckle E.J., Deloukas P. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Caudate nucleus and Thalamus.
[3]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis.
[5]	"BAD-LAMP is a novel biomarker of nonactivated human plasmacytoid dendritic cells." Defays A., David A., de Gassart A., De Angelis Rigotti F., Wenger T., Camossetto V., Brousset P., Petrella T., Dalod M., Gatti E., Pierre P. Blood 118:609-617(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION, MUTAGENESIS OF TYR-276, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL121740 mRNA. Translation: CAB57330.1. AK295336 mRNA. Translation: BAG58309.1. AK316114 mRNA. Translation: BAH14485.1. AL031652 Genomic DNA. Translation: CAC18101.1. BC050727 mRNA. Translation: AAH50727.1.
IPI	IPI00016848. IPI00929214.
RefSeq	NP_001186826.1. NM_001199897.1. NP_036393.1. NM_012261.3.
UniGene	Hs.22920.
3D structure databases
ProteinModelPortal	Q9UJQ1.
ModBase	Search...
Polymorphism databases
DMDM	26392602.
Proteomic databases
PaxDb	Q9UJQ1.
PeptideAtlas	Q9UJQ1.
PRIDE	Q9UJQ1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000246070; ENSP00000246070; ENSG00000125869. ENST00000427562; ENSP00000406360; ENSG00000125869.
GeneID	24141.
KEGG	hsa:24141.
UCSC	uc002wni.2. human. uc010zrc.2. human.
Organism-specific databases
CTD	24141.
GeneCards	GC20P009495.
HGNC	HGNC:16097. LAMP5.
HPA	HPA004802.
MIM	614641. gene.
neXtProt	NX_Q9UJQ1.
PharmGKB	PA25643.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41798.
HOGENOM	HOG000231912.
HOVERGEN	HBG051186.
InParanoid	Q9UJQ1.
OMA	DVWASNY.
OrthoDB	EOG4B8JDS.
PhylomeDB	Q9UJQ1.
Gene expression databases
Bgee	Q9UJQ1.
CleanEx	HS_C20orf103.
Genevestigator	Q9UJQ1.
GermOnline	ENSG00000125869. Homo sapiens.
Family and domain databases
InterPro	IPR002000. Lysosome-assoc_membr_glycop. [Graphical view]
Pfam	PF01299. Lamp. 1 hit. [Graphical view]
PROSITE	PS00310. LAMP_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	24141.
NextBio	46821.
SOURCE	Search...

Entry information

Entry name

LAMP5_HUMAN

Accession

Primary (citable) accession number: Q9UJQ1
Secondary accession number(s): B4DHZ7, B7Z9Z9

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 6, 2002
Last sequence update:	May 1, 2000
Last modified:	April 3, 2013
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.