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SLC6A17 (solute carrier family 6 member 17)

Identity

Alias_namessolute carrier family 6 (neurotransmitter transporter), member 17
solute carrier family 6, member 17
solute carrier family 6 (neutral amino acid transporter), member 17
Other aliasMRT48
NTT4
HGNC (Hugo) SLC6A17
LocusID (NCBI) 388662
Atlas_Id 73473
Location 1p13.3  [Link to chromosome band 1p13]
Location_base_pair Starts at 110150514 and ends at 110202201 bp from pter ( according to hg38-Dec_2013)
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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC6A17   31399
Cards
Entrez_Gene (NCBI)SLC6A17  388662  solute carrier family 6 member 17
AliasesMRT48; NTT4
GeneCards (Weizmann)SLC6A17
Ensembl hg19 (Hinxton)ENSG00000197106 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197106 [Gene_View]  chr1:110150514-110202201 [Contig_View]  SLC6A17 [Vega]
ICGC DataPortalENSG00000197106
TCGA cBioPortalSLC6A17
AceView (NCBI)SLC6A17
Genatlas (Paris)SLC6A17
WikiGenes388662
SOURCE (Princeton)SLC6A17
Genetics Home Reference (NIH)SLC6A17
Genomic and cartography
GoldenPath hg38 (UCSC)SLC6A17  -     chr1:110150514-110202201 +  1p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC6A17  -     1p13.3   [Description]    (hg19-Feb_2009)
EnsemblSLC6A17 - 1p13.3 [CytoView hg19]  SLC6A17 - 1p13.3 [CytoView hg38]
Mapping of homologs : NCBISLC6A17 [Mapview hg19]  SLC6A17 [Mapview hg38]
OMIM610299   616269   
Gene and transcription
Genbank (Entrez)AK054687 AK124875 AK289982 AK297429 AL137437
RefSeq transcript (Entrez)NM_001010898
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC6A17
Cluster EST : UnigeneHs.128382 [ NCBI ]
CGAP (NCI)Hs.128382
Alternative Splicing GalleryENSG00000197106
Gene ExpressionSLC6A17 [ NCBI-GEO ]   SLC6A17 [ EBI - ARRAY_EXPRESS ]   SLC6A17 [ SEEK ]   SLC6A17 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC6A17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388662
GTEX Portal (Tissue expression)SLC6A17
Human Protein AtlasENSG00000197106-SLC6A17 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H1V8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H1V8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H1V8
Splice isoforms : SwissVarQ9H1V8
PhosPhoSitePlusQ9H1V8
Domaine pattern : Prosite (Expaxy)NA_NEUROTRAN_SYMP_1 (PS00610)    NA_NEUROTRAN_SYMP_2 (PS00754)    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)SLC6A17
DMDM Disease mutations388662
Blocks (Seattle)SLC6A17
SuperfamilyQ9H1V8
Human Protein Atlas [tissue]ENSG00000197106-SLC6A17 [tissue]
Peptide AtlasQ9H1V8
HPRD18061
IPIIPI00335355   IPI00446006   
Protein Interaction databases
DIP (DOE-UCLA)Q9H1V8
IntAct (EBI)Q9H1V8
FunCoupENSG00000197106
BioGRIDSLC6A17
STRING (EMBL)SLC6A17
ZODIACSLC6A17
Ontologies - Pathways
QuickGOQ9H1V8
Ontology : AmiGOamino acid transmembrane transport  neurotransmitter:sodium symporter activity  integral component of plasma membrane  neurotransmitter transport  brain development  synaptic vesicle  amino acid transmembrane transporter activity  neutral amino acid transport  glycine transport  glycine transport  leucine transport  leucine transport  proline transport  proline transport  cell junction  synaptic vesicle membrane  alanine transport  alanine transport  
Ontology : EGO-EBIamino acid transmembrane transport  neurotransmitter:sodium symporter activity  integral component of plasma membrane  neurotransmitter transport  brain development  synaptic vesicle  amino acid transmembrane transporter activity  neutral amino acid transport  glycine transport  glycine transport  leucine transport  leucine transport  proline transport  proline transport  cell junction  synaptic vesicle membrane  alanine transport  alanine transport  
NDEx NetworkSLC6A17
Atlas of Cancer Signalling NetworkSLC6A17
Wikipedia pathwaysSLC6A17
Orthology - Evolution
OrthoDB388662
GeneTree (enSembl)ENSG00000197106
Phylogenetic Trees/Animal Genes : TreeFamSLC6A17
HOVERGENQ9H1V8
HOGENOMQ9H1V8
Homologs : HomoloGeneSLC6A17
Homology/Alignments : Family Browser (UCSC)SLC6A17
Gene fusions - Rearrangements
Tumor Fusion PortalSLC6A17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC6A17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC6A17
dbVarSLC6A17
ClinVarSLC6A17
1000_GenomesSLC6A17 
Exome Variant ServerSLC6A17
ExAC (Exome Aggregation Consortium)ENSG00000197106
GNOMAD BrowserENSG00000197106
Genetic variants : HAPMAP388662
Genomic Variants (DGV)SLC6A17 [DGVbeta]
DECIPHERSLC6A17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC6A17 
Mutations
ICGC Data PortalSLC6A17 
TCGA Data PortalSLC6A17 
Broad Tumor PortalSLC6A17
OASIS PortalSLC6A17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC6A17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC6A17
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 SLC6A17
DgiDB (Drug Gene Interaction Database)SLC6A17
DoCM (Curated mutations)SLC6A17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC6A17 (select a term)
intoGenSLC6A17
Cancer3DSLC6A17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610299    616269   
Orphanet23708   
DisGeNETSLC6A17
MedgenSLC6A17
Genetic Testing Registry SLC6A17
NextProtQ9H1V8 [Medical]
TSGene388662
GENETestsSLC6A17
Target ValidationSLC6A17
Huge Navigator SLC6A17 [HugePedia]
snp3D : Map Gene to Disease388662
BioCentury BCIQSLC6A17
ClinGenSLC6A17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD388662
Chemical/Pharm GKB GenePA134941636
Clinical trialSLC6A17
Miscellaneous
canSAR (ICR)SLC6A17 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC6A17
EVEXSLC6A17
GoPubMedSLC6A17
iHOPSLC6A17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:02:58 CET 2017

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