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Q6ZP29 (LAAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Lysosomal amino acid transporter 1 homolog
Alternative name(s):
PQ-loop repeat-containing protein 2
Gene names
Name:PQLC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length291 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes. Ref.4 Ref.5

Subcellular location

Lysosome membrane; Multi-pass membrane protein Ref.5.

Domain

The di-leucine motif mediates lysosomal localization (Ref.5).

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 (Ref.4).

Sequence similarities

Belongs to the laat-1 family.

Contains 2 PQ-loop domains.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZP29-1)

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: Q6ZP29-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: Missing.
Isoform 3 (identifier: Q6ZP29-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 291291Lysosomal amino acid transporter 1 homolog
PRO_0000282434

Regions

Topological domain1 – 3737Lumenal Potential
Transmembrane38 – 5821Helical; Potential
Topological domain59 – 7113Cytoplasmic Potential
Transmembrane72 – 9221Helical; Potential
Topological domain93 – 986Lumenal Potential
Transmembrane99 – 11921Helical; Potential
Topological domain120 – 13415Cytoplasmic Potential
Transmembrane135 – 15521Helical; Potential
Topological domain156 – 18227Lumenal Potential
Transmembrane183 – 20321Helical; Potential
Topological domain204 – 21411Cytoplasmic Potential
Transmembrane215 – 23521Helical; Potential
Topological domain236 – 25419Lumenal Potential
Transmembrane255 – 27521Helical; Potential
Topological domain276 – 29116Cytoplasmic Potential
Domain34 – 10067PQ-loop 1
Domain184 – 24360PQ-loop 2
Motif288 – 2892Di-leucine motif

Amino acid modifications

Glycosylation101N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 111111Missing in isoform 2.
VSP_024151
Alternative sequence1 – 6565Missing in isoform 3.
VSP_024152
Natural variant161S → N.
Corresponds to variant rs12140547 [ dbSNP | Ensembl ].
VAR_031409

Experimental info

Mutagenesis551P → L: Abolishes uptake of arginine and lysine. Ref.5
Mutagenesis288 – 2892Missing: Abolishes lysosomal localization.
Sequence conflict291C → R in BAC85298. Ref.1
Sequence conflict1731G → D in BAG54217. Ref.1
Sequence conflict1911S → F in BAD18732. Ref.1
Sequence conflict2861E → K in BAG54217. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: B544D3BFA5458920

FASTA29131,947
        10         20         30         40         50         60 
MVWKKLGSRN FSSCPSGSIQ WIWDVLGECA QDGWDEASVG LGLISILCFA ASTFPQFIKA 

        70         80         90        100        110        120 
YKTGNMDQAL SLWFLLGWIG GDSCNLIGSF LADQLPLQTY TAVYYVLADL VMLTLYFYYK 

       130        140        150        160        170        180 
FRTRPSLLSA PINSVLLFLM GMACATPLLS AAGPVAAPRE AFRGRALLSV ESGSKPFTRQ 

       190        200        210        220        230        240 
EVIGFVIGSI SSVLYLLSRL PQIRTNFLRK STQGISYSLF ALVMLGNTLY GLSVLLKNPE 

       250        260        270        280        290 
EGQSEGSYLL HHLPWLVGSL GVLLLDTIIS IQFLVYRRST AASELEPLLP S 

« Hide

Isoform 2 [UniParc].

Checksum: 59476E65A3863851
Show »

FASTA18019,770
Isoform 3 [UniParc].

Checksum: 5CBA1E4A27D9BE00
Show »

FASTA22624,848

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS195.2. [Q6ZP29-1]
CCDS30618.1. [Q6ZP29-3]
RefSeqNP_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]
UniGeneHs.647620.

3D structure databases

ProteinModelPortalQ6ZP29.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120242. 1 interaction.
STRING9606.ENSP00000364295.

Protein family/group databases

TCDB2.A.43.2.1. the lysosomal cystine transporter (lct) family.

Polymorphism databases

DMDM74749590.

Proteomic databases

PaxDbQ6ZP29.
PRIDEQ6ZP29.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375153; ENSP00000364295; ENSG00000040487. [Q6ZP29-1]
ENST00000375155; ENSP00000364297; ENSG00000040487. [Q6ZP29-1]
ENST00000400548; ENSP00000383395; ENSG00000040487. [Q6ZP29-3]
GeneID54896.
KEGGhsa:54896.
UCSCuc001bby.3. human. [Q6ZP29-1]

Organism-specific databases

CTD54896.
GeneCardsGC01P019638.
HGNCHGNC:26001. PQLC2.
HPAHPA057810.
MIM614760. gene.
neXtProtNX_Q6ZP29.
PharmGKBPA134879718.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326634.
HOGENOMHOG000293428.
HOVERGENHBG061486.
InParanoidQ6ZP29.
OMAGNTMYGL.
OrthoDBEOG70CR7F.
PhylomeDBQ6ZP29.
TreeFamTF313694.

Gene expression databases

ArrayExpressQ6ZP29.
BgeeQ6ZP29.
CleanExHS_PQLC2.
GenevestigatorQ6ZP29.

Family and domain databases

InterProIPR006603. PQ-loop_rpt.
[Graphical view]
PfamPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTSM00679. CTNS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPQLC2. human.
GenomeRNAi54896.
NextBio57902.
PROQ6ZP29.
SOURCESearch...

Entry information

Entry nameLAAT1_HUMAN
AccessionPrimary (citable) accession number: Q6ZP29
Secondary accession number(s): B3KWQ5 expand/collapse secondary AC list , Q6ZMJ3, Q6ZP27, Q9NXC7
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM