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Q6ZP29

- LAAT1_HUMAN

UniProt

Q6ZP29 - LAAT1_HUMAN

Protein

Lysosomal amino acid transporter 1 homolog

Gene

PQLC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.2 Publications

    GO - Molecular functioni

    1. arginine transmembrane transporter activity Source: UniProtKB
    2. L-lysine transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. amino acid homeostasis Source: UniProtKB
    2. amino acid transmembrane transport Source: GOC
    3. arginine transport Source: UniProtKB
    4. lysine transport Source: UniProtKB

    Keywords - Biological processi

    Amino-acid transport, Transport

    Protein family/group databases

    TCDBi2.A.43.2.1. the lysosomal cystine transporter (lct) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lysosomal amino acid transporter 1 homolog
    Alternative name(s):
    PQ-loop repeat-containing protein 2
    Gene namesi
    Name:PQLC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26001. PQLC2.

    Subcellular locationi

    Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of organelle membrane Source: UniProtKB
    2. lysosomal membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi55 – 551P → L: Abolishes uptake of arginine and lysine. 1 Publication
    Mutagenesisi288 – 2892Missing: Abolishes lysosomal localization.

    Organism-specific databases

    PharmGKBiPA134879718.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291Lysosomal amino acid transporter 1 homologPRO_0000282434Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi10 – 101N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ6ZP29.
    PRIDEiQ6ZP29.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ZP29.
    BgeeiQ6ZP29.
    CleanExiHS_PQLC2.
    GenevestigatoriQ6ZP29.

    Organism-specific databases

    HPAiHPA057810.

    Interactioni

    Protein-protein interaction databases

    BioGridi120242. 1 interaction.
    STRINGi9606.ENSP00000364295.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZP29.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3737LumenalSequence AnalysisAdd
    BLAST
    Topological domaini59 – 7113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini93 – 986LumenalSequence Analysis
    Topological domaini120 – 13415CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini156 – 18227LumenalSequence AnalysisAdd
    BLAST
    Topological domaini204 – 21411CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini236 – 25419LumenalSequence AnalysisAdd
    BLAST
    Topological domaini276 – 29116CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei72 – 9221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei99 – 11921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei135 – 15521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei183 – 20321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei215 – 23521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini34 – 10067PQ-loop 1Add
    BLAST
    Domaini184 – 24360PQ-loop 2Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi288 – 2892Di-leucine motif

    Domaini

    The di-leucine motif mediates lysosomal localization.1 Publication

    Sequence similaritiesi

    Belongs to the laat-1 family.Curated
    Contains 2 PQ-loop domains.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG326634.
    HOGENOMiHOG000293428.
    HOVERGENiHBG061486.
    InParanoidiQ6ZP29.
    OMAiGNTMYGL.
    OrthoDBiEOG70CR7F.
    PhylomeDBiQ6ZP29.
    TreeFamiTF313694.

    Family and domain databases

    InterProiIPR006603. PQ-loop_rpt.
    [Graphical view]
    PfamiPF04193. PQ-loop. 2 hits.
    [Graphical view]
    SMARTiSM00679. CTNS. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZP29-1) [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

    MVWKKLGSRN FSSCPSGSIQ WIWDVLGECA QDGWDEASVG LGLISILCFA    50
    ASTFPQFIKA YKTGNMDQAL SLWFLLGWIG GDSCNLIGSF LADQLPLQTY 100
    TAVYYVLADL VMLTLYFYYK FRTRPSLLSA PINSVLLFLM GMACATPLLS 150
    AAGPVAAPRE AFRGRALLSV ESGSKPFTRQ EVIGFVIGSI SSVLYLLSRL 200
    PQIRTNFLRK STQGISYSLF ALVMLGNTLY GLSVLLKNPE EGQSEGSYLL 250
    HHLPWLVGSL GVLLLDTIIS IQFLVYRRST AASELEPLLP S 291
    Length:291
    Mass (Da):31,947
    Last modified:July 5, 2004 - v1
    Checksum:iB544D3BFA5458920
    GO
    Isoform 2 (identifier: Q6ZP29-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-111: Missing.

    Show »
    Length:180
    Mass (Da):19,770
    Checksum:i59476E65A3863851
    GO
    Isoform 3 (identifier: Q6ZP29-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-65: Missing.

    Show »
    Length:226
    Mass (Da):24,848
    Checksum:i5CBA1E4A27D9BE00
    GO

    Sequence cautioni

    The sequence BAA91088.1 differs from that shown. Reason: Frameshift at position 26.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti29 – 291C → R in BAC85298. (PubMed:14702039)Curated
    Sequence conflicti173 – 1731G → D in BAG54217. (PubMed:14702039)Curated
    Sequence conflicti191 – 1911S → F in BAD18732. (PubMed:14702039)Curated
    Sequence conflicti286 – 2861E → K in BAG54217. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161S → N.
    Corresponds to variant rs12140547 [ dbSNP | Ensembl ].
    VAR_031409

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 111111Missing in isoform 2. 1 PublicationVSP_024151Add
    BLAST
    Alternative sequencei1 – 6565Missing in isoform 3. 1 PublicationVSP_024152Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000327 mRNA. Translation: BAA91088.1. Frameshift.
    AK125580 mRNA. Translation: BAG54217.1.
    AK130171 mRNA. Translation: BAC85296.1.
    AK130175 mRNA. Translation: BAC85298.1.
    AK172745 mRNA. Translation: BAD18732.1.
    AL035413 Genomic DNA. Translation: CAM12847.1.
    AL035413 Genomic DNA. Translation: CAI22229.1.
    BC015324 mRNA. Translation: AAH15324.1.
    CCDSiCCDS195.2. [Q6ZP29-1]
    CCDS30618.1. [Q6ZP29-3]
    RefSeqiNP_001035214.1. NM_001040125.1. [Q6ZP29-1]
    NP_001035215.1. NM_001040126.1. [Q6ZP29-3]
    NP_001274460.1. NM_001287531.1. [Q6ZP29-2]
    NP_060235.2. NM_017765.2. [Q6ZP29-1]
    XP_005245973.1. XM_005245916.1. [Q6ZP29-1]
    XP_006710773.1. XM_006710710.1. [Q6ZP29-2]
    XP_006710774.1. XM_006710711.1. [Q6ZP29-2]
    UniGeneiHs.647620.

    Genome annotation databases

    EnsembliENST00000375153; ENSP00000364295; ENSG00000040487. [Q6ZP29-1]
    ENST00000375155; ENSP00000364297; ENSG00000040487. [Q6ZP29-1]
    ENST00000400548; ENSP00000383395; ENSG00000040487. [Q6ZP29-3]
    GeneIDi54896.
    KEGGihsa:54896.
    UCSCiuc001bby.3. human. [Q6ZP29-1]

    Polymorphism databases

    DMDMi74749590.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000327 mRNA. Translation: BAA91088.1 . Frameshift.
    AK125580 mRNA. Translation: BAG54217.1 .
    AK130171 mRNA. Translation: BAC85296.1 .
    AK130175 mRNA. Translation: BAC85298.1 .
    AK172745 mRNA. Translation: BAD18732.1 .
    AL035413 Genomic DNA. Translation: CAM12847.1 .
    AL035413 Genomic DNA. Translation: CAI22229.1 .
    BC015324 mRNA. Translation: AAH15324.1 .
    CCDSi CCDS195.2. [Q6ZP29-1 ]
    CCDS30618.1. [Q6ZP29-3 ]
    RefSeqi NP_001035214.1. NM_001040125.1. [Q6ZP29-1 ]
    NP_001035215.1. NM_001040126.1. [Q6ZP29-3 ]
    NP_001274460.1. NM_001287531.1. [Q6ZP29-2 ]
    NP_060235.2. NM_017765.2. [Q6ZP29-1 ]
    XP_005245973.1. XM_005245916.1. [Q6ZP29-1 ]
    XP_006710773.1. XM_006710710.1. [Q6ZP29-2 ]
    XP_006710774.1. XM_006710711.1. [Q6ZP29-2 ]
    UniGenei Hs.647620.

    3D structure databases

    ProteinModelPortali Q6ZP29.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120242. 1 interaction.
    STRINGi 9606.ENSP00000364295.

    Protein family/group databases

    TCDBi 2.A.43.2.1. the lysosomal cystine transporter (lct) family.

    Polymorphism databases

    DMDMi 74749590.

    Proteomic databases

    PaxDbi Q6ZP29.
    PRIDEi Q6ZP29.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375153 ; ENSP00000364295 ; ENSG00000040487 . [Q6ZP29-1 ]
    ENST00000375155 ; ENSP00000364297 ; ENSG00000040487 . [Q6ZP29-1 ]
    ENST00000400548 ; ENSP00000383395 ; ENSG00000040487 . [Q6ZP29-3 ]
    GeneIDi 54896.
    KEGGi hsa:54896.
    UCSCi uc001bby.3. human. [Q6ZP29-1 ]

    Organism-specific databases

    CTDi 54896.
    GeneCardsi GC01P019638.
    HGNCi HGNC:26001. PQLC2.
    HPAi HPA057810.
    MIMi 614760. gene.
    neXtProti NX_Q6ZP29.
    PharmGKBi PA134879718.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG326634.
    HOGENOMi HOG000293428.
    HOVERGENi HBG061486.
    InParanoidi Q6ZP29.
    OMAi GNTMYGL.
    OrthoDBi EOG70CR7F.
    PhylomeDBi Q6ZP29.
    TreeFami TF313694.

    Miscellaneous databases

    ChiTaRSi PQLC2. human.
    GenomeRNAii 54896.
    NextBioi 57902.
    PROi Q6ZP29.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6ZP29.
    Bgeei Q6ZP29.
    CleanExi HS_PQLC2.
    Genevestigatori Q6ZP29.

    Family and domain databases

    InterProi IPR006603. PQ-loop_rpt.
    [Graphical view ]
    Pfami PF04193. PQ-loop. 2 hits.
    [Graphical view ]
    SMARTi SM00679. CTNS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Adipose tissue, Hepatoma, Macrophage and Small intestine.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 3).
      Tissue: Kidney.
    4. "Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy."
      Jezegou A., Llinares E., Anne C., Kieffer-Jaquinod S., O'Regan S., Aupetit J., Chabli A., Sagne C., Debacker C., Chadefaux-Vekemans B., Journet A., Andre B., Gasnier B.
      Proc. Natl. Acad. Sci. U.S.A. 109:E3434-E3443(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    5. "LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis."
      Liu B., Du H., Rutkowski R., Gartner A., Wang X.
      Science 337:351-354(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF PRO-55 AND 288-LEU-LEU-289.

    Entry informationi

    Entry nameiLAAT1_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZP29
    Secondary accession number(s): B3KWQ5
    , Q6ZMJ3, Q6ZP27, Q9NXC7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 3, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 80 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

    May play a role in the export from lysosomes of cysteamine-cysteine mixed disulfide (MxD), the product formed upon treatment by cysteamine of patients with cystinosis, a disease characterized by the accumulation of cysteine in the lysosomes.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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