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Q6ZP29

- LAAT1_HUMAN

UniProt

Q6ZP29 - LAAT1_HUMAN

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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

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. L-lysine transmembrane transporter activity Source: UniProtKB
  2. arginine transmembrane transporter activity Source: UniProtKB
  3. cationic amino acid 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
Complete GO annotation...

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; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737Lumenal Reviewed prediction
Add
BLAST
Transmembranei38 – 5821Helical; Reviewed prediction
Add
BLAST
Topological domaini59 – 7113Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei72 – 9221Helical; Reviewed prediction
Add
BLAST
Topological domaini93 – 986Lumenal Reviewed prediction
Transmembranei99 – 11921Helical; Reviewed prediction
Add
BLAST
Topological domaini120 – 13415Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei135 – 15521Helical; Reviewed prediction
Add
BLAST
Topological domaini156 – 18227Lumenal Reviewed prediction
Add
BLAST
Transmembranei183 – 20321Helical; Reviewed prediction
Add
BLAST
Topological domaini204 – 21411Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei215 – 23521Helical; Reviewed prediction
Add
BLAST
Topological domaini236 – 25419Lumenal Reviewed prediction
Add
BLAST
Transmembranei255 – 27521Helical; Reviewed prediction
Add
BLAST
Topological domaini276 – 29116Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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 homolog
PRO_0000282434Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

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.

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.
VSP_024151Add
BLAST
Alternative sequencei1 – 6565Missing in isoform 3.
VSP_024152Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291C → R in BAC85298. 1 Publication
Sequence conflicti173 – 1731G → D in BAG54217. 1 Publication
Sequence conflicti191 – 1911S → F in BAD18732. 1 Publication
Sequence conflicti286 – 2861E → K in BAG54217. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 79 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

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