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Q9UJQ1

- LAMP5_HUMAN

UniProt

Q9UJQ1 - LAMP5_HUMAN

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Protein

Lysosome-associated membrane glycoprotein 5

Gene
LAMP5, C20orf103
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16097. LAMP5.

Subcellular locationi

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 projectiondendrite By similarity. Cell projectiongrowth 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.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini30 – 235206Extracellular Reviewed predictionAdd
BLAST
Transmembranei236 – 25621Helical; Reviewed predictionAdd
BLAST
Topological domaini257 – 28024Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cytoplasmic vesicle membrane Source: UniProtKB
  2. dendrite Source: UniProtKB-SubCell
  3. dendrite membrane Source: UniProtKB
  4. early endosome membrane Source: UniProtKB
  5. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB
  6. endosome membrane Source: UniProtKB
  7. growth cone membrane Source: UniProtKB
  8. integral component of membrane Source: UniProtKB-KW
  9. plasma membrane Source: UniProtKB
  10. recycling endosome membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi276 – 2761Y → A: Cell surface localization. 1 Publication

Organism-specific databases

PharmGKBiPA25643.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2929 Reviewed predictionAdd
BLAST
Chaini30 – 280251Lysosome-associated membrane glycoprotein 5PRO_0000021031Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi35 – 351N-linked (GlcNAc...) Reviewed prediction
Glycosylationi53 – 531N-linked (GlcNAc...) Reviewed prediction
Glycosylationi127 – 1271N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Glycosylated By similarity.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UJQ1.
PeptideAtlasiQ9UJQ1.
PRIDEiQ9UJQ1.

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

BgeeiQ9UJQ1.
CleanExiHS_C20orf103.
GenevestigatoriQ9UJQ1.

Organism-specific databases

HPAiHPA004802.

Structurei

3D structure databases

ProteinModelPortaliQ9UJQ1.

Family & Domainsi

Sequence similaritiesi

Belongs to the LAMP family.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41798.
HOGENOMiHOG000231912.
HOVERGENiHBG051186.
InParanoidiQ9UJQ1.
OMAiCPVDERE.
OrthoDBiEOG7DRJ3S.
PhylomeDBiQ9UJQ1.
TreeFamiTF330776.

Family and domain databases

InterProiIPR002000. Lysosome-assoc_membr_glycop.
[Graphical view]
PANTHERiPTHR11506. PTHR11506. 1 hit.
PfamiPF01299. Lamp. 1 hit.
[Graphical view]
PROSITEiPS00310. LAMP_1. 1 hit.
[Graphical view]

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. Align

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

MDLQGRGVPS IDRLRVLLML FHTMAQIMAE QEVENLSGLS TNPEKDIFVV    50
RENGTTCLMA EFAAKFIVPY DVWASNYVDL ITEQADIALT RGAEVKGRCG 100
HSQSELQVFW VDRAYALKML FVKESHNMSK GPEATWRLSK VQFVYDSSEK 150
THFKDAVSAG KHTANSHHLS ALVTPAGKSY ECQAQQTISL ASSDPQKTVT 200
MILSAVHIQP FDIISDFVFS EEHKCPVDER EQLEETLPLI LGLILGLVIM 250
VTLAIYHVHH KMTANQVQIP RDRSQYKHMG 280
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121D → G.
Corresponds to variant rs2232259 [ dbSNP | Ensembl ].
VAR_014401
Natural varianti81 – 811I → V.
Corresponds to variant rs2232263 [ dbSNP | Ensembl ].
VAR_014402
Natural varianti103 – 1031Q → E.
Corresponds to variant rs2232264 [ dbSNP | Ensembl ].
VAR_014403
Natural varianti158 – 1581S → G.
Corresponds to variant rs2232266 [ dbSNP | Ensembl ].
VAR_014404

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei80 – 12344Missing in isoform 2. VSP_037186Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti251 – 2511V → A in BAG58309. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
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.2. human. [Q9UJQ1-1]
uc010zrc.2. human. [Q9UJQ1-2]

Polymorphism databases

DMDMi26392602.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13106.1. [Q9UJQ1-1 ]
CCDS56177.1. [Q9UJQ1-2 ]
RefSeqi NP_001186826.1. NM_001199897.1. [Q9UJQ1-2 ]
NP_036393.1. NM_012261.3. [Q9UJQ1-1 ]
UniGenei Hs.22920.

3D structure databases

ProteinModelPortali Q9UJQ1.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 26392602.

Proteomic databases

PaxDbi Q9UJQ1.
PeptideAtlasi Q9UJQ1.
PRIDEi Q9UJQ1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000246070 ; ENSP00000246070 ; ENSG00000125869 . [Q9UJQ1-1 ]
ENST00000427562 ; ENSP00000406360 ; ENSG00000125869 . [Q9UJQ1-2 ]
GeneIDi 24141.
KEGGi hsa:24141.
UCSCi uc002wni.2. human. [Q9UJQ1-1 ]
uc010zrc.2. human. [Q9UJQ1-2 ]

Organism-specific databases

CTDi 24141.
GeneCardsi GC20P009495.
HGNCi HGNC:16097. LAMP5.
HPAi HPA004802.
MIMi 614641. gene.
neXtProti NX_Q9UJQ1.
PharmGKBi PA25643.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41798.
HOGENOMi HOG000231912.
HOVERGENi HBG051186.
InParanoidi Q9UJQ1.
OMAi CPVDERE.
OrthoDBi EOG7DRJ3S.
PhylomeDBi Q9UJQ1.
TreeFami TF330776.

Miscellaneous databases

GenomeRNAii 24141.
NextBioi 46821.
PROi Q9UJQ1.
SOURCEi Search...

Gene expression databases

Bgeei Q9UJQ1.
CleanExi HS_C20orf103.
Genevestigatori Q9UJQ1.

Family and domain databases

InterProi IPR002000. Lysosome-assoc_membr_glycop.
[Graphical view ]
PANTHERi PTHR11506. PTHR11506. 1 hit.
Pfami PF01299. Lamp. 1 hit.
[Graphical view ]
PROSITEi PS00310. LAMP_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiLAMP5_HUMAN
AccessioniPrimary (citable) accession number: Q9UJQ1
Secondary accession number(s): B4DHZ7, B7Z9Z9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 99 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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