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Q9UJQ1

- LAMP5_HUMAN

UniProt

Q9UJQ1 - LAMP5_HUMAN

Protein

Lysosome-associated membrane glycoprotein 5

Gene

LAMP5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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 1 Publication; Single-pass type I membrane protein 1 Publication. Endoplasmic reticulum-Golgi intermediate compartment membrane 1 Publication; Single-pass type I membrane protein 1 Publication. Endosome membrane 1 Publication; Single-pass type I membrane protein 1 Publication. Cytoplasmic vesicle By similarity. Cell projectiondendrite By similarity. Cell projectiongrowth cone membrane By similarity; Single-pass type I membrane protein By similarity. Early endosome membrane By similarity; 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.By similarity

    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

    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 – 2929Sequence AnalysisAdd
    BLAST
    Chaini30 – 280251Lysosome-associated membrane glycoprotein 5PRO_0000021031Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini30 – 235206ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini257 – 28024CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei236 – 25621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the LAMP family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti251 – 2511V → A in BAG58309. (PubMed:14702039)Curated

    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. 1 PublicationVSP_037186Add
    BLAST

    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

    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: October 1, 2014
    This is version 100 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