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Entry version 128 (02 Jun 2021)
Sequence version 1 (05 Jul 2004)
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Protein

Lysosomal amino acid transporter 1 homolog

Gene

SLC66A1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 cystine in the lysosomes.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAmino-acid transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6ZP29

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5223345, Miscellaneous transport and binding events

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysosomal amino acid transporter 1 homologCurated
Alternative name(s):
PQ-loop repeat-containing protein 2
Solute carrier family 66 member 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC66A1Imported
Synonyms:PQLC2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26001, SLC66A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614760, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZP29

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000040487.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 37LumenalSequence analysisAdd BLAST37
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi55P → L: Abolishes uptake of arginine and lysine. 1 Publication1
Mutagenesisi288 – 289Missing : Abolishes lysosomal localization. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
54896

Open Targets

More...
OpenTargetsi
ENSG00000040487

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134879718

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZP29, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PQLC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749590

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002824341 – 291Lysosomal amino acid transporter 1 homologAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi10N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6ZP29

PeptideAtlas

More...
PeptideAtlasi
Q6ZP29

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZP29

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68056 [Q6ZP29-1]
68057 [Q6ZP29-2]
68058 [Q6ZP29-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q6ZP29, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6ZP29

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ZP29

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000040487, Expressed in right hemisphere of cerebellum and 140 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6ZP29, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZP29, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000040487, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120242, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q6ZP29, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000364295

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6ZP29, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini34 – 100PQ-loop 1Add BLAST67
Domaini184 – 243PQ-loop 2Add BLAST60

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi288 – 289Di-leucine motif2

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The di-leucine motif mediates lysosomal localization.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the laat-1 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2913, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003344

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_019699_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZP29

Identification of Orthologs from Complete Genome Data

More...
OMAi
DCPNGSR

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZP29

TreeFam database of animal gene trees

More...
TreeFami
TF313694

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006603, PQ-loop_rpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04193, PQ-loop, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00679, CTNS, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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 ...
SLC66A1
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJZ6E9PJZ6_HUMAN
Lysosomal amino acid transporter 1 ...
SLC66A1
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PL93E9PL93_HUMAN
Lysosomal amino acid transporter 1 ...
SLC66A1 PQLC2
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03140916S → N. Corresponds to variant dbSNP:rs12140547Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS195.2 [Q6ZP29-1]
CCDS30618.1 [Q6ZP29-3]

NCBI Reference Sequences

More...
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_005245916.2 [Q6ZP29-1]
XP_006710773.1, XM_006710710.2 [Q6ZP29-2]
XP_006710774.1, XM_006710711.2 [Q6ZP29-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000375153; ENSP00000364295; ENSG00000040487 [Q6ZP29-1]
ENST00000375155; ENSP00000364297; ENSG00000040487 [Q6ZP29-1]
ENST00000400548; ENSP00000383395; ENSG00000040487 [Q6ZP29-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54896

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54896

UCSC genome browser

More...
UCSCi
uc001bby.4, human [Q6ZP29-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120242, 12 interactors
IntActiQ6ZP29, 10 interactors
STRINGi9606.ENSP00000364295

Protein family/group databases

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

PTM databases

GlyGeniQ6ZP29, 1 site
iPTMnetiQ6ZP29
PhosphoSitePlusiQ6ZP29

Genetic variation databases

BioMutaiPQLC2
DMDMi74749590

Proteomic databases

PaxDbiQ6ZP29
PeptideAtlasiQ6ZP29
PRIDEiQ6ZP29
ProteomicsDBi68056 [Q6ZP29-1]
68057 [Q6ZP29-2]
68058 [Q6ZP29-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
46685, 86 antibodies

The DNASU plasmid repository

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DNASUi
54896

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

Comparative Toxicogenomics Database

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CTDi
54896
DisGeNETi54896

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC66A1
HGNCiHGNC:26001, SLC66A1
HPAiENSG00000040487, Low tissue specificity
MIMi614760, gene
neXtProtiNX_Q6ZP29
OpenTargetsiENSG00000040487
PharmGKBiPA134879718
VEuPathDBiHostDB:ENSG00000040487.12

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2913, Eukaryota
GeneTreeiENSGT00390000003344
HOGENOMiCLU_019699_3_0_1
InParanoidiQ6ZP29
OMAiDCPNGSR
PhylomeDBiQ6ZP29
TreeFamiTF313694

Enzyme and pathway databases

PathwayCommonsiQ6ZP29
ReactomeiR-HSA-5223345, Miscellaneous transport and binding events

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54896, 4 hits in 993 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PQLC2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54896
PharosiQ6ZP29, Tdark

Protein Ontology

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PROi
PR:Q6ZP29
RNActiQ6ZP29, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000040487, Expressed in right hemisphere of cerebellum and 140 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLAAT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZP29
Secondary accession number(s): B3KWQ5
, Q6ZMJ3, Q6ZP27, Q9NXC7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: July 5, 2004
Last modified: June 2, 2021
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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