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SLC6A19 (solute carrier family 6 member 19)

Identity

Alias_namessolute carrier family 6 (neutral amino acid transporter)
Other aliasB0AT1
HND
HGNC (Hugo) SLC6A19
LocusID (NCBI) 340024
Atlas_Id 53392
Location 5p15.33  [Link to chromosome band 5p15]
Location_base_pair Starts at 1201710 and ends at 1225230 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KDM2A (11q13.2) / SLC6A19 (5p15.33)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC6A19   27960
Cards
Entrez_Gene (NCBI)SLC6A19  340024  solute carrier family 6 member 19
AliasesB0AT1; HND
GeneCards (Weizmann)SLC6A19
Ensembl hg19 (Hinxton)ENSG00000174358 [Gene_View]  chr5:1201710-1225230 [Contig_View]  SLC6A19 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174358 [Gene_View]  chr5:1201710-1225230 [Contig_View]  SLC6A19 [Vega]
ICGC DataPortalENSG00000174358
TCGA cBioPortalSLC6A19
AceView (NCBI)SLC6A19
Genatlas (Paris)SLC6A19
WikiGenes340024
SOURCE (Princeton)SLC6A19
Genetics Home Reference (NIH)SLC6A19
Genomic and cartography
GoldenPath hg19 (UCSC)SLC6A19  -     chr5:1201710-1225230 +  5p15.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC6A19  -     5p15.33   [Description]    (hg38-Dec_2013)
EnsemblSLC6A19 - 5p15.33 [CytoView hg19]  SLC6A19 - 5p15.33 [CytoView hg38]
Mapping of homologs : NCBISLC6A19 [Mapview hg19]  SLC6A19 [Mapview hg38]
OMIM138500   234500   242600   608893   
Gene and transcription
Genbank (Entrez)AI015994 AK000687 AK091954 AK096054 AK123779
RefSeq transcript (Entrez)NM_001003841
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_008282 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)SLC6A19
Cluster EST : UnigeneHs.481478 [ NCBI ]
CGAP (NCI)Hs.481478
Alternative Splicing GalleryENSG00000174358
Gene ExpressionSLC6A19 [ NCBI-GEO ]   SLC6A19 [ EBI - ARRAY_EXPRESS ]   SLC6A19 [ SEEK ]   SLC6A19 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC6A19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)340024
GTEX Portal (Tissue expression)SLC6A19
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ695T7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ695T7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ695T7
Splice isoforms : SwissVarQ695T7
PhosPhoSitePlusQ695T7
Domaine pattern : Prosite (Expaxy)NA_NEUROTRAN_SYMP_1 (PS00610)    NA_NEUROTRAN_SYMP_3 (PS50267)   
Domains : Interpro (EBI)Na/ntran_symport    Na/ntran_symport_orphan   
Domain families : Pfam (Sanger)SNF (PF00209)   
Domain families : Pfam (NCBI)pfam00209   
Conserved Domain (NCBI)SLC6A19
DMDM Disease mutations340024
Blocks (Seattle)SLC6A19
SuperfamilyQ695T7
Human Protein AtlasENSG00000174358
Peptide AtlasQ695T7
HPRD10596
IPIIPI00456145   IPI00902715   
Protein Interaction databases
DIP (DOE-UCLA)Q695T7
IntAct (EBI)Q695T7
FunCoupENSG00000174358
BioGRIDSLC6A19
STRING (EMBL)SLC6A19
ZODIACSLC6A19
Ontologies - Pathways
QuickGOQ695T7
Ontology : AmiGOamino acid transmembrane transport  neurotransmitter:sodium symporter activity  plasma membrane  integral component of plasma membrane  neurotransmitter transport  amino acid transport  response to nutrient  amino acid transmembrane transporter activity  neutral amino acid transmembrane transporter activity  neutral amino acid transport  brush border membrane  extracellular exosome  
Ontology : EGO-EBIamino acid transmembrane transport  neurotransmitter:sodium symporter activity  plasma membrane  integral component of plasma membrane  neurotransmitter transport  amino acid transport  response to nutrient  amino acid transmembrane transporter activity  neutral amino acid transmembrane transporter activity  neutral amino acid transport  brush border membrane  extracellular exosome  
Pathways : KEGGProtein digestion and absorption    Mineral absorption   
NDEx NetworkSLC6A19
Atlas of Cancer Signalling NetworkSLC6A19
Wikipedia pathwaysSLC6A19
Orthology - Evolution
OrthoDB340024
GeneTree (enSembl)ENSG00000174358
Phylogenetic Trees/Animal Genes : TreeFamSLC6A19
HOVERGENQ695T7
HOGENOMQ695T7
Homologs : HomoloGeneSLC6A19
Homology/Alignments : Family Browser (UCSC)SLC6A19
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC6A19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC6A19
dbVarSLC6A19
ClinVarSLC6A19
1000_GenomesSLC6A19 
Exome Variant ServerSLC6A19
ExAC (Exome Aggregation Consortium)SLC6A19 (select the gene name)
Genetic variants : HAPMAP340024
Genomic Variants (DGV)SLC6A19 [DGVbeta]
DECIPHER (Syndromes)5:1201710-1225230  ENSG00000174358
CONAN: Copy Number AnalysisSLC6A19 
Mutations
ICGC Data PortalSLC6A19 
TCGA Data PortalSLC6A19 
Broad Tumor PortalSLC6A19
OASIS PortalSLC6A19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC6A19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC6A19
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 SLC6A19
DgiDB (Drug Gene Interaction Database)SLC6A19
DoCM (Curated mutations)SLC6A19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC6A19 (select a term)
intoGenSLC6A19
Cancer3DSLC6A19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138500    234500    242600    608893   
Orphanet502    10466   
MedgenSLC6A19
Genetic Testing Registry SLC6A19
NextProtQ695T7 [Medical]
TSGene340024
GENETestsSLC6A19
Huge Navigator SLC6A19 [HugePedia]
snp3D : Map Gene to Disease340024
BioCentury BCIQSLC6A19
ClinGenSLC6A19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD340024
Chemical/Pharm GKB GenePA134968815
Clinical trialSLC6A19
Miscellaneous
canSAR (ICR)SLC6A19 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC6A19
EVEXSLC6A19
GoPubMedSLC6A19
iHOPSLC6A19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:19:54 CEST 2017

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