Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC33A1 (solute carrier family 33 member 1)

Identity

Alias_namesACATN
SPG42
acetyl-Coenzyme A transporter
spastic paraplegia 42 (autosomal dominant)
solute carrier family 33 (acetyl-CoA transporter), member 1
Alias_symbol (synonym)AT-1
AT1
Other aliasCCHLND
HGNC (Hugo) SLC33A1
LocusID (NCBI) 9197
Atlas_Id 73394
Location 3q25.31  [Link to chromosome band 3q25]
Location_base_pair Starts at 155826511 and ends at 155854459 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)
NAV2 (11p15.1) / SLC33A1 (3q25.31)SLC33A1 (3q25.31) / PLCH1 (3q25.31)SLC33A1 (3q25.31) / SLC33A1 (3q25.31)

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)SLC33A1   95
Cards
Entrez_Gene (NCBI)SLC33A1  9197  solute carrier family 33 member 1
AliasesACATN; AT-1; AT1; CCHLND; 
SPG42
GeneCards (Weizmann)SLC33A1
Ensembl hg19 (Hinxton)ENSG00000169359 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169359 [Gene_View]  chr3:155826511-155854459 [Contig_View]  SLC33A1 [Vega]
ICGC DataPortalENSG00000169359
TCGA cBioPortalSLC33A1
AceView (NCBI)SLC33A1
Genatlas (Paris)SLC33A1
WikiGenes9197
SOURCE (Princeton)SLC33A1
Genetics Home Reference (NIH)SLC33A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC33A1  -     chr3:155826511-155854459 -  3q25.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC33A1  -     3q25.31   [Description]    (hg19-Feb_2009)
EnsemblSLC33A1 - 3q25.31 [CytoView hg19]  SLC33A1 - 3q25.31 [CytoView hg38]
Mapping of homologs : NCBISLC33A1 [Mapview hg19]  SLC33A1 [Mapview hg38]
OMIM603690   612539   614482   
Gene and transcription
Genbank (Entrez)AK312268 BC014416 D88152 DQ891707 DQ894885
RefSeq transcript (Entrez)NM_001190992 NM_004733
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC33A1
Cluster EST : UnigeneHs.478031 [ NCBI ]
CGAP (NCI)Hs.478031
Alternative Splicing GalleryENSG00000169359
Gene ExpressionSLC33A1 [ NCBI-GEO ]   SLC33A1 [ EBI - ARRAY_EXPRESS ]   SLC33A1 [ SEEK ]   SLC33A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC33A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9197
GTEX Portal (Tissue expression)SLC33A1
Human Protein AtlasENSG00000169359-SLC33A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00400   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00400  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00400
Splice isoforms : SwissVarO00400
PhosPhoSitePlusO00400
Domains : Interpro (EBI)Acetyl-CoA_trnpstr_1    AmpG_permease/AT-1    MFS_dom   
Domain families : Pfam (Sanger)Acatn (PF13000)   
Domain families : Pfam (NCBI)pfam13000   
Conserved Domain (NCBI)SLC33A1
DMDM Disease mutations9197
Blocks (Seattle)SLC33A1
SuperfamilyO00400
Human Protein Atlas [tissue]ENSG00000169359-SLC33A1 [tissue]
Peptide AtlasO00400
HPRD04734
IPIIPI00006205   IPI00946309   IPI00946134   IPI00947189   
Protein Interaction databases
DIP (DOE-UCLA)O00400
IntAct (EBI)O00400
FunCoupENSG00000169359
BioGRIDSLC33A1
STRING (EMBL)SLC33A1
ZODIACSLC33A1
Ontologies - Pathways
QuickGOO00400
Ontology : AmiGOGolgi membrane  endoplasmic reticulum membrane  integral component of plasma membrane  transport  acetyl-CoA transporter activity  solute:proton symporter activity  acetyl-CoA transport  proton transport  membrane  BMP signaling pathway  transmembrane transport  SMAD protein signal transduction  
Ontology : EGO-EBIGolgi membrane  endoplasmic reticulum membrane  integral component of plasma membrane  transport  acetyl-CoA transporter activity  solute:proton symporter activity  acetyl-CoA transport  proton transport  membrane  BMP signaling pathway  transmembrane transport  SMAD protein signal transduction  
Pathways : KEGGGlycosphingolipid biosynthesis - ganglio series   
NDEx NetworkSLC33A1
Atlas of Cancer Signalling NetworkSLC33A1
Wikipedia pathwaysSLC33A1
Orthology - Evolution
OrthoDB9197
GeneTree (enSembl)ENSG00000169359
Phylogenetic Trees/Animal Genes : TreeFamSLC33A1
HOVERGENO00400
HOGENOMO00400
Homologs : HomoloGeneSLC33A1
Homology/Alignments : Family Browser (UCSC)SLC33A1
Gene fusions - Rearrangements
Tumor Fusion PortalSLC33A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC33A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC33A1
dbVarSLC33A1
ClinVarSLC33A1
1000_GenomesSLC33A1 
Exome Variant ServerSLC33A1
ExAC (Exome Aggregation Consortium)ENSG00000169359
GNOMAD BrowserENSG00000169359
Genetic variants : HAPMAP9197
Genomic Variants (DGV)SLC33A1 [DGVbeta]
DECIPHERSLC33A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC33A1 
Mutations
ICGC Data PortalSLC33A1 
TCGA Data PortalSLC33A1 
Broad Tumor PortalSLC33A1
OASIS PortalSLC33A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC33A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC33A1
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SLC33A1
DgiDB (Drug Gene Interaction Database)SLC33A1
DoCM (Curated mutations)SLC33A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC33A1 (select a term)
intoGenSLC33A1
Cancer3DSLC33A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603690    612539    614482   
Orphanet17945    21109   
DisGeNETSLC33A1
MedgenSLC33A1
Genetic Testing Registry SLC33A1
NextProtO00400 [Medical]
TSGene9197
GENETestsSLC33A1
Target ValidationSLC33A1
Huge Navigator SLC33A1 [HugePedia]
snp3D : Map Gene to Disease9197
BioCentury BCIQSLC33A1
ClinGenSLC33A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9197
Chemical/Pharm GKB GenePA24432
Clinical trialSLC33A1
Miscellaneous
canSAR (ICR)SLC33A1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC33A1
EVEXSLC33A1
GoPubMedSLC33A1
iHOPSLC33A1
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 13:08:59 CET 2017

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