Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SLC66A1 (solute carrier family 66 member 1)

Identity

Alias (NCBI)LAAT-1
LAAT1
PQLC2
HGNC (Hugo) SLC66A1
HGNC Alias symbFLJ20320
LocusID (NCBI) 54896
Atlas_Id 77760
Location 1p36.13  [Link to chromosome band 1p36]
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;8)(p36;q24) MTBP/PQLC2

External links

Nomenclature
HGNC (Hugo)SLC66A1   26001
Cards
Entrez_Gene (NCBI)SLC66A1  54896  solute carrier family 66 member 1
AliasesLAAT-1; LAAT1; PQLC2
GeneCards (Weizmann)SLC66A1
Ensembl hg19 (Hinxton)ENSG00000040487 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000040487 [Gene_View]  ENSG00000040487 [Sequence]  - [Contig_View]  SLC66A1 [Vega]
ICGC DataPortalENSG00000040487
TCGA cBioPortalSLC66A1
AceView (NCBI)SLC66A1
Genatlas (Paris)SLC66A1
WikiGenes54896
SOURCE (Princeton)SLC66A1
Genetics Home Reference (NIH)SLC66A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC66A1  -  
GoldenPath hg19 (UCSC)SLC66A1  -  
GoldenPathSLC66A1 - [CytoView hg19]  SLC66A1 - [CytoView hg38]
ImmunoBaseENSG00000040487
genome Data Viewer NCBISLC66A1 [Mapview hg19]  
OMIM614760   
Gene and transcription
Genbank (Entrez)AK000327 AK125580 AK130171 AK130175 AK172745
RefSeq transcript (Entrez)NM_001040125 NM_001040126 NM_001287531 NM_017765
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC66A1
Alternative Splicing GalleryENSG00000040487
Gene ExpressionSLC66A1 [ NCBI-GEO ]   SLC66A1 [ EBI - ARRAY_EXPRESS ]   SLC66A1 [ SEEK ]   SLC66A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC66A1 [ Firebrowse - Broad ]
GenevisibleExpression of SLC66A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54896
GTEX Portal (Tissue expression)SLC66A1
Human Protein AtlasENSG00000040487-SLC66A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZP29   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZP29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZP29
Splice isoforms : SwissVarQ6ZP29
PhosPhoSitePlusQ6ZP29
Domains : Interpro (EBI)PQ-loop_rpt   
Domain families : Pfam (Sanger)PQ-loop (PF04193)   
Domain families : Pfam (NCBI)pfam04193   
Domain families : Smart (EMBL)CTNS (SM00679)  
Conserved Domain (NCBI)SLC66A1
DMDM Disease mutations54896
Blocks (Seattle)SLC66A1
SuperfamilyQ6ZP29
Human Protein Atlas [tissue]ENSG00000040487-SLC66A1 [tissue]
Peptide AtlasQ6ZP29
HPRD17896
IPIIPI00643251   IPI00844049   IPI00748068   IPI00827572   IPI00983678   IPI00983053   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZP29
IntAct (EBI)Q6ZP29
FunCoupENSG00000040487
BioGRIDSLC66A1
STRING (EMBL)SLC66A1
ZODIACSLC66A1
Ontologies - Pathways
QuickGOQ6ZP29
Ontology : AmiGOlysosomal membrane  lysosomal membrane  lysosomal membrane  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  arginine transmembrane transporter activity  arginine transmembrane transporter activity  L-lysine transmembrane transporter activity  L-lysine transmembrane transporter activity  arginine transport  lysine transport  integral component of organelle membrane  intracellular membrane-bounded organelle  transmembrane transport  amino acid homeostasis  L-lysine transmembrane transport  arginine transmembrane transport  
Ontology : EGO-EBIlysosomal membrane  lysosomal membrane  lysosomal membrane  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  arginine transmembrane transporter activity  arginine transmembrane transporter activity  L-lysine transmembrane transporter activity  L-lysine transmembrane transporter activity  arginine transport  lysine transport  integral component of organelle membrane  intracellular membrane-bounded organelle  transmembrane transport  amino acid homeostasis  L-lysine transmembrane transport  arginine transmembrane transport  
NDEx NetworkSLC66A1
Atlas of Cancer Signalling NetworkSLC66A1
Wikipedia pathwaysSLC66A1
Orthology - Evolution
OrthoDB54896
GeneTree (enSembl)ENSG00000040487
Phylogenetic Trees/Animal Genes : TreeFamSLC66A1
HOGENOMQ6ZP29
Homologs : HomoloGeneSLC66A1
Homology/Alignments : Family Browser (UCSC)SLC66A1
Gene fusions - Rearrangements
Fusion : QuiverSLC66A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC66A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC66A1
dbVarSLC66A1
ClinVarSLC66A1
1000_GenomesSLC66A1 
Exome Variant ServerSLC66A1
GNOMAD BrowserENSG00000040487
Varsome BrowserSLC66A1
Genetic variants : HAPMAP54896
Genomic Variants (DGV)SLC66A1 [DGVbeta]
DECIPHERSLC66A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC66A1 
Mutations
ICGC Data PortalSLC66A1 
TCGA Data PortalSLC66A1 
Broad Tumor PortalSLC66A1
OASIS PortalSLC66A1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSLC66A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC66A1
DgiDB (Drug Gene Interaction Database)SLC66A1
DoCM (Curated mutations)SLC66A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC66A1 (select a term)
intoGenSLC66A1
Cancer3DSLC66A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614760   
Orphanet
DisGeNETSLC66A1
MedgenSLC66A1
Genetic Testing Registry SLC66A1
NextProtQ6ZP29 [Medical]
TSGene54896
GENETestsSLC66A1
Target ValidationSLC66A1
Huge Navigator SLC66A1 [HugePedia]
snp3D : Map Gene to Disease54896
BioCentury BCIQSLC66A1
ClinGenSLC66A1
Clinical trials, drugs, therapy
Protein Interactions : CTD54896
Pharm GKB GenePA134879718
Clinical trialSLC66A1
Miscellaneous
canSAR (ICR)SLC66A1 (select the gene name)
HarmonizomeSLC66A1
DataMed IndexSLC66A1
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC66A1
EVEXSLC66A1
GoPubMedSLC66A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:46:07 CEST 2020
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