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Protein

Lysosomal amino acid transporter 1 homolog

Gene

PQLC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000040487.12
HGNCiHGNC:26001 PQLC2
MIMi614760 gene
neXtProtiNX_Q6ZP29

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 37LumenalSequence analysisAdd BLAST37
Transmembranei38 – 58HelicalSequence analysisAdd BLAST21
Topological domaini59 – 71CytoplasmicSequence analysisAdd BLAST13
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Topological domaini93 – 98LumenalSequence analysis6
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Topological domaini120 – 134CytoplasmicSequence analysisAdd BLAST15
Transmembranei135 – 155HelicalSequence analysisAdd BLAST21
Topological domaini156 – 182LumenalSequence analysisAdd BLAST27
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 214CytoplasmicSequence analysisAdd BLAST11
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21
Topological domaini236 – 254LumenalSequence analysisAdd BLAST19
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Topological domaini276 – 291CytoplasmicSequence analysisAdd BLAST16

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi55P → L: Abolishes uptake of arginine and lysine. 1 Publication1
Mutagenesisi288 – 289Missing : Abolishes lysosomal localization. 1 Publication2

Organism-specific databases

DisGeNETi54896
OpenTargetsiENSG00000040487
PharmGKBiPA134879718

Polymorphism and mutation databases

BioMutaiPQLC2
DMDMi74749590

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002824341 – 291Lysosomal amino acid transporter 1 homologAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi10N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6ZP29
PeptideAtlasiQ6ZP29
PRIDEiQ6ZP29
ProteomicsDBi68056
68057 [Q6ZP29-2]
68058 [Q6ZP29-3]

PTM databases

iPTMnetiQ6ZP29
PhosphoSitePlusiQ6ZP29

Expressioni

Gene expression databases

BgeeiENSG00000040487 Expressed in 120 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_PQLC2
ExpressionAtlasiQ6ZP29 baseline and differential
GenevisibleiQ6ZP29 HS

Organism-specific databases

HPAiHPA057810

Interactioni

Protein-protein interaction databases

BioGridi120242, 1 interactor
IntActiQ6ZP29, 10 interactors
STRINGi9606.ENSP00000364295

Structurei

3D structure databases

ProteinModelPortaliQ6ZP29
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 100PQ-loop 1Add BLAST67
Domaini184 – 243PQ-loop 2Add BLAST60

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi288 – 289Di-leucine motif2

Domaini

The di-leucine motif mediates lysosomal localization.1 Publication

Sequence similaritiesi

Belongs to the laat-1 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2913 Eukaryota
ENOG4111FM2 LUCA
GeneTreeiENSGT00390000003344
HOGENOMiHOG000293428
HOVERGENiHBG061486
InParanoidiQ6ZP29
OMAiACWIIVF
OrthoDBiEOG091G0C7E
PhylomeDBiQ6ZP29
TreeFamiTF313694

Family and domain databases

InterProiView protein in InterPro
IPR006603 PQ-loop_rpt
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MVWKKLGSRN FSSCPSGSIQ WIWDVLGECA QDGWDEASVG LGLISILCFA
60 70 80 90 100
ASTFPQFIKA YKTGNMDQAL SLWFLLGWIG GDSCNLIGSF LADQLPLQTY
110 120 130 140 150
TAVYYVLADL VMLTLYFYYK FRTRPSLLSA PINSVLLFLM GMACATPLLS
160 170 180 190 200
AAGPVAAPRE AFRGRALLSV ESGSKPFTRQ EVIGFVIGSI SSVLYLLSRL
210 220 230 240 250
PQIRTNFLRK STQGISYSLF ALVMLGNTLY GLSVLLKNPE EGQSEGSYLL
260 270 280 290
HHLPWLVGSL GVLLLDTIIS IQFLVYRRST AASELEPLLP S
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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A2E6A2A2E6_HUMAN
Lysosomal amino acid transporter 1 ...
PQLC2
127Annotation score:
E9PJZ6E9PJZ6_HUMAN
Lysosomal amino acid transporter 1 ...
PQLC2
100Annotation score:
E9PL93E9PL93_HUMAN
Lysosomal amino acid transporter 1 ...
PQLC2
35Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29C → R in BAC85298 (PubMed:14702039).Curated1
Sequence conflicti173G → D in BAG54217 (PubMed:14702039).Curated1
Sequence conflicti191S → F in BAD18732 (PubMed:14702039).Curated1
Sequence conflicti286E → K in BAG54217 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03140916S → N. Corresponds to variant dbSNP:rs12140547Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0241511 – 111Missing in isoform 2. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_0241521 – 65Missing in isoform 3. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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_005245916.2 [Q6ZP29-1]
XP_006710773.1, XM_006710710.2 [Q6ZP29-2]
XP_006710774.1, XM_006710711.2 [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.4 human [Q6ZP29-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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_005245916.2 [Q6ZP29-1]
XP_006710773.1, XM_006710710.2 [Q6ZP29-2]
XP_006710774.1, XM_006710711.2 [Q6ZP29-2]
UniGeneiHs.647620

3D structure databases

ProteinModelPortaliQ6ZP29
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120242, 1 interactor
IntActiQ6ZP29, 10 interactors
STRINGi9606.ENSP00000364295

Protein family/group databases

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

PTM databases

iPTMnetiQ6ZP29
PhosphoSitePlusiQ6ZP29

Polymorphism and mutation databases

BioMutaiPQLC2
DMDMi74749590

Proteomic databases

PaxDbiQ6ZP29
PeptideAtlasiQ6ZP29
PRIDEiQ6ZP29
ProteomicsDBi68056
68057 [Q6ZP29-2]
68058 [Q6ZP29-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375153; ENSP00000364295; ENSG00000040487 [Q6ZP29-1]
ENST00000375155; ENSP00000364297; ENSG00000040487 [Q6ZP29-1]
ENST00000400548; ENSP00000383395; ENSG00000040487 [Q6ZP29-3]
GeneIDi54896
KEGGihsa:54896
UCSCiuc001bby.4 human [Q6ZP29-1]

Organism-specific databases

CTDi54896
DisGeNETi54896
EuPathDBiHostDB:ENSG00000040487.12
GeneCardsiPQLC2
HGNCiHGNC:26001 PQLC2
HPAiHPA057810
MIMi614760 gene
neXtProtiNX_Q6ZP29
OpenTargetsiENSG00000040487
PharmGKBiPA134879718
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2913 Eukaryota
ENOG4111FM2 LUCA
GeneTreeiENSGT00390000003344
HOGENOMiHOG000293428
HOVERGENiHBG061486
InParanoidiQ6ZP29
OMAiACWIIVF
OrthoDBiEOG091G0C7E
PhylomeDBiQ6ZP29
TreeFamiTF313694

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

ChiTaRSiPQLC2 human
GenomeRNAii54896
PROiPR:Q6ZP29
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000040487 Expressed in 120 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_PQLC2
ExpressionAtlasiQ6ZP29 baseline and differential
GenevisibleiQ6ZP29 HS

Family and domain databases

InterProiView protein in InterPro
IPR006603 PQ-loop_rpt
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiLAAT1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZP29
Secondary accession number(s): B3KWQ5
, Q6ZMJ3, Q6ZP27, Q9NXC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 111 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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