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SLC48A1 (solute carrier family 48 member 1)

Identity

Alias_namessolute carrier family 48 (heme transporter)
Alias_symbol (synonym)FLJ20489
hHRG-1
HRG1
Other aliasHRG-1
HGNC (Hugo) SLC48A1
LocusID (NCBI) 55652
Atlas_Id 54966
Location 12q13.11  [Link to chromosome band 12q13]
Location_base_pair Starts at 47773184 and ends at 47782753 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)
MAP2K1 (15q22.31) / SLC48A1 (12q13.11)PTPRA (20p13) / SLC48A1 (12q13.11)SLC48A1 (12q13.11) / SLC48A1 (12q13.11)

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)SLC48A1   26035
Cards
Entrez_Gene (NCBI)SLC48A1  55652  solute carrier family 48 member 1
AliasesHRG-1; HRG1; hHRG-1
GeneCards (Weizmann)SLC48A1
Ensembl hg19 (Hinxton)ENSG00000211584 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000211584 [Gene_View]  chr12:47773184-47782753 [Contig_View]  SLC48A1 [Vega]
ICGC DataPortalENSG00000211584
TCGA cBioPortalSLC48A1
AceView (NCBI)SLC48A1
Genatlas (Paris)SLC48A1
WikiGenes55652
SOURCE (Princeton)SLC48A1
Genetics Home Reference (NIH)SLC48A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC48A1  -     chr12:47773184-47782753 +  12q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC48A1  -     12q13.11   [Description]    (hg19-Feb_2009)
EnsemblSLC48A1 - 12q13.11 [CytoView hg19]  SLC48A1 - 12q13.11 [CytoView hg38]
Mapping of homologs : NCBISLC48A1 [Mapview hg19]  SLC48A1 [Mapview hg38]
OMIM612187   
Gene and transcription
Genbank (Entrez)AK000496 AK025856 AK294075 BC002759 BC011823
RefSeq transcript (Entrez)NM_017842
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC48A1
Cluster EST : UnigeneHs.438867 [ NCBI ]
CGAP (NCI)Hs.438867
Alternative Splicing GalleryENSG00000211584
Gene ExpressionSLC48A1 [ NCBI-GEO ]   SLC48A1 [ EBI - ARRAY_EXPRESS ]   SLC48A1 [ SEEK ]   SLC48A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC48A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55652
GTEX Portal (Tissue expression)SLC48A1
Human Protein AtlasENSG00000211584-SLC48A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P1K1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P1K1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P1K1
Splice isoforms : SwissVarQ6P1K1
PhosPhoSitePlusQ6P1K1
Domains : Interpro (EBI)HRG   
Domain families : Pfam (Sanger)HRG (PF16954)   
Domain families : Pfam (NCBI)pfam16954   
Conserved Domain (NCBI)SLC48A1
DMDM Disease mutations55652
Blocks (Seattle)SLC48A1
SuperfamilyQ6P1K1
Human Protein Atlas [tissue]ENSG00000211584-SLC48A1 [tissue]
Peptide AtlasQ6P1K1
HPRD07916
IPIIPI00439924   IPI00902748   IPI00910707   IPI01022554   IPI01022869   
Protein Interaction databases
DIP (DOE-UCLA)Q6P1K1
IntAct (EBI)Q6P1K1
FunCoupENSG00000211584
BioGRIDSLC48A1
STRING (EMBL)SLC48A1
ZODIACSLC48A1
Ontologies - Pathways
QuickGOQ6P1K1
Ontology : AmiGOprotein binding  lysosome  lysosomal membrane  plasma membrane  endosome membrane  heme transporter activity  heme transport  heme transport  integral component of membrane  heme binding  
Ontology : EGO-EBIprotein binding  lysosome  lysosomal membrane  plasma membrane  endosome membrane  heme transporter activity  heme transport  heme transport  integral component of membrane  heme binding  
NDEx NetworkSLC48A1
Atlas of Cancer Signalling NetworkSLC48A1
Wikipedia pathwaysSLC48A1
Orthology - Evolution
OrthoDB55652
GeneTree (enSembl)ENSG00000211584
Phylogenetic Trees/Animal Genes : TreeFamSLC48A1
HOVERGENQ6P1K1
HOGENOMQ6P1K1
Homologs : HomoloGeneSLC48A1
Homology/Alignments : Family Browser (UCSC)SLC48A1
Gene fusions - Rearrangements
Tumor Fusion PortalSLC48A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC48A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC48A1
dbVarSLC48A1
ClinVarSLC48A1
1000_GenomesSLC48A1 
Exome Variant ServerSLC48A1
ExAC (Exome Aggregation Consortium)ENSG00000211584
GNOMAD BrowserENSG00000211584
Genetic variants : HAPMAP55652
Genomic Variants (DGV)SLC48A1 [DGVbeta]
DECIPHERSLC48A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC48A1 
Mutations
ICGC Data PortalSLC48A1 
TCGA Data PortalSLC48A1 
Broad Tumor PortalSLC48A1
OASIS PortalSLC48A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC48A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC48A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC48A1
DgiDB (Drug Gene Interaction Database)SLC48A1
DoCM (Curated mutations)SLC48A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC48A1 (select a term)
intoGenSLC48A1
Cancer3DSLC48A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612187   
Orphanet
DisGeNETSLC48A1
MedgenSLC48A1
Genetic Testing Registry SLC48A1
NextProtQ6P1K1 [Medical]
TSGene55652
GENETestsSLC48A1
Target ValidationSLC48A1
Huge Navigator SLC48A1 [HugePedia]
snp3D : Map Gene to Disease55652
BioCentury BCIQSLC48A1
ClinGenSLC48A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55652
Chemical/Pharm GKB GenePA164725837
Clinical trialSLC48A1
Miscellaneous
canSAR (ICR)SLC48A1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC48A1
EVEXSLC48A1
GoPubMedSLC48A1
iHOPSLC48A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:35:19 CET 2017

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