Aliases for SLC66A1 Gene

Aliases for SLC66A1 Gene

  • Solute Carrier Family 66 Member 1 2 3 4 5
  • Lysosomal Amino Acid Transporter 1 Homolog 2 3 4
  • PQ-Loop Repeat-Containing Protein 2 3 4
  • PQ Loop Repeat Containing 2 2 3
  • LAAT-1 2 3
  • LAAT1 2 3
  • PQLC2 3 4
  • FLJ20320 2
  • SLC66A1 5

External Ids for SLC66A1 Gene

Previous HGNC Symbols for SLC66A1 Gene

  • PQLC2

Summaries for SLC66A1 Gene

GeneCards Summary for SLC66A1 Gene

SLC66A1 (Solute Carrier Family 66 Member 1) is a Protein Coding gene. Diseases associated with SLC66A1 include Cystinosis and Gallbladder Papillomatosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. An important paralog of this gene is TMEM44.

UniProtKB/Swiss-Prot Summary for SLC66A1 Gene

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

Additional gene information for SLC66A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC66A1 Gene

Genomics for SLC66A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC66A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC66A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC66A1

Genomic Locations for SLC66A1 Gene

Genomic Locations for SLC66A1 Gene
chr1:19,312,302-19,332,611
(GRCh38/hg38)
Size:
20,310 bases
Orientation:
Plus strand
chr1:19,638,740-19,655,794
(GRCh37/hg19)
Size:
17,055 bases
Orientation:
Plus strand

Genomic View for SLC66A1 Gene

Genes around SLC66A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC66A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC66A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC66A1 Gene

Proteins for SLC66A1 Gene

  • Protein details for SLC66A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZP29-LAAT1_HUMAN
    Recommended name:
    Lysosomal amino acid transporter 1 homolog
    Protein Accession:
    Q6ZP29
    Secondary Accessions:
    • B3KWQ5
    • Q6ZMJ3
    • Q6ZP27
    • Q9NXC7

    Protein attributes for SLC66A1 Gene

    Size:
    291 amino acids
    Molecular mass:
    31947 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91088.1; Type=Frameshift; Evidence={ECO:0000305};
    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.

    Alternative splice isoforms for SLC66A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC66A1 Gene

Post-translational modifications for SLC66A1 Gene

  • Glycosylation at Asn10
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC66A1 Gene

Domains & Families for SLC66A1 Gene

Gene Families for SLC66A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC66A1 Gene

InterPro:
Blocks:
  • Cystinosin/ERS1p repeat
ProtoNet:

Suggested Antigen Peptide Sequences for SLC66A1 Gene

GenScript: Design optimal peptide antigens:
  • PQ loop repeat containing 2 (A2A2E6_HUMAN)
  • PQ-loop repeat-containing protein 2 (PQLC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZP29

UniProtKB/Swiss-Prot:

LAAT1_HUMAN :
  • The di-leucine motif mediates lysosomal localization.
  • Belongs to the laat-1 family.
Domain:
  • The di-leucine motif mediates lysosomal localization.
Family:
  • Belongs to the laat-1 family.
genes like me logo Genes that share domains with SLC66A1: view

Function for SLC66A1 Gene

Molecular function for SLC66A1 Gene

UniProtKB/Swiss-Prot Function:
Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.

Phenotypes From GWAS Catalog for SLC66A1 Gene

Gene Ontology (GO) - Molecular Function for SLC66A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015174 basic amino acid transmembrane transporter activity TAS --
GO:0015181 arginine transmembrane transporter activity IDA 22822152
GO:0015189 L-lysine transmembrane transporter activity IDA 22822152
genes like me logo Genes that share ontologies with SLC66A1: view
genes like me logo Genes that share phenotypes with SLC66A1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC66A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC66A1 Gene

Localization for SLC66A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC66A1 Gene

Lysosome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC66A1 gene
Compartment Confidence
lysosome 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC66A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0031301 integral component of organelle membrane IDA 22822152
genes like me logo Genes that share ontologies with SLC66A1: view

Pathways & Interactions for SLC66A1 Gene

genes like me logo Genes that share pathways with SLC66A1: view

Pathways by source for SLC66A1 Gene

Gene Ontology (GO) - Biological Process for SLC66A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport IEA --
GO:0015809 arginine transport IDA 22822152
GO:0015819 lysine transport IDA 22822152
GO:0055085 transmembrane transport TAS --
GO:0080144 amino acid homeostasis IDA 22822152
genes like me logo Genes that share ontologies with SLC66A1: view

No data available for SIGNOR curated interactions for SLC66A1 Gene

Drugs & Compounds for SLC66A1 Gene

No Compound Related Data Available

Transcripts for SLC66A1 Gene

mRNA/cDNA for SLC66A1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC66A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC66A1 Gene

No ASD Table

Relevant External Links for SLC66A1 Gene

GeneLoc Exon Structure for
SLC66A1

Expression for SLC66A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC66A1

SOURCE GeneReport for Unigene cluster for SLC66A1 Gene:

Hs.647620

Evidence on tissue expression from TISSUES for SLC66A1 Gene

  • Kidney(4.4)
  • Intestine(4.2)
  • Nervous system(3.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC66A1 Gene

Orthologs for SLC66A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC66A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PQLC2 30 31
  • 99.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pqlc2 30 31
  • 86.48 (n)
OneToOne
Slc66a1 17
Dog
(Canis familiaris)
Mammalia PQLC2 30 31
  • 85.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PQLC2 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PQLC2 31
  • 67 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PQLC2 31
  • 31 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PQLC2 30 31
  • 68.11 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101731365 30
  • 61.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii pqlc2 30 31
  • 61.35 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2585 30
Worm
(Caenorhabditis elegans)
Secernentea Y43H11AL.2 30
  • 45.74 (n)
laat-1 31
  • 30 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 26 (a)
ManyToMany
RTC2 31
  • 26 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
YPQ2 33 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G20100 30
  • 41.05 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0266800 30
  • 45.48 (n)
Species where no ortholog for SLC66A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC66A1 Gene

ENSEMBL:
Gene Tree for SLC66A1 (if available)
TreeFam:
Gene Tree for SLC66A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC66A1: view image

Paralogs for SLC66A1 Gene

Paralogs for SLC66A1 Gene

genes like me logo Genes that share paralogs with SLC66A1: view

Variants for SLC66A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC66A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12140547 - p.Ser16Asn

Additional dbSNP identifiers (rs#s) for SLC66A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC66A1 Gene

Variant ID Type Subtype PubMed ID
dgv21e212 CNV loss 25503493
esv2547343 CNV deletion 19546169
esv2660555 CNV deletion 23128226
esv2674133 CNV deletion 23128226
esv3585395 CNV loss 21293372
esv3585396 CNV loss 21293372

Variation tolerance for SLC66A1 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC66A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC66A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC66A1 Gene

Disorders for SLC66A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC66A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cystinosis
  • cystine storage disease
gallbladder papillomatosis
gm1-gangliosidosis, type iii
  • gangliosidosis, generalized gm1, adult type
sea-blue histiocyte disease
  • sea-blue histiocytosis
gm1-gangliosidosis, type ii
  • gangliosidosis, generalized gm1, juvenile type
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC66A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC66A1 Gene

Publications for SLC66A1 Gene

  1. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. (PMID: 23169667) Jézégou A … Gasnier B (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4
  2. LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. (PMID: 22822152) Liu B … Wang X (Science (New York, N.Y.) 2012) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SLC66A1 Gene

Sources for SLC66A1 Gene