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SLC48A1 (solute carrier family 48 member 1)

Identity

Alias (NCBI)HRG-1
HRG1
hHRG-1
HGNC (Hugo) SLC48A1
HGNC Alias symbFLJ20489
hHRG-1
HRG1
HGNC Previous namesolute carrier family 48 (heme transporter), member 1
LocusID (NCBI) 55652
Atlas_Id 54966
Location 12q13.11  [Link to chromosome band 12q13]
Location_base_pair Starts at 47773238 and ends at 47782751 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    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]  ENSG00000211584 [Sequence]  chr12:47773238-47782751 [Contig_View]  SLC48A1 [Vega]
ICGC DataPortalENSG00000211584
TCGA cBioPortalSLC48A1
AceView (NCBI)SLC48A1
Genatlas (Paris)SLC48A1
SOURCE (Princeton)SLC48A1
Genetics Home Reference (NIH)SLC48A1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC48A1  -     chr12:47773238-47782751 +  12q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC48A1  -     12q13.11   [Description]    (hg19-Feb_2009)
GoldenPathSLC48A1 - 12q13.11 [CytoView hg19]  SLC48A1 - 12q13.11 [CytoView hg38]
ImmunoBaseENSG00000211584
Genome Data Viewer NCBISLC48A1 [Mapview hg19]  
OMIM612187   
Gene and transcription
Genbank (Entrez)AK000496 AK025856 AK294075 BC002759 BC011823
RefSeq transcript (Entrez)NM_017842
Consensus coding sequences : CCDS (NCBI)SLC48A1
Gene ExpressionSLC48A1 [ NCBI-GEO ]   SLC48A1 [ EBI - ARRAY_EXPRESS ]   SLC48A1 [ SEEK ]   SLC48A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC48A1 [ Firebrowse - Broad ]
GenevisibleExpression of SLC48A1 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
PhosPhoSitePlusQ6P1K1
Domains : Interpro (EBI)HRG   
Domain families : Pfam (Sanger)HRG (PF16954)   
Domain families : Pfam (NCBI)pfam16954   
Conserved Domain (NCBI)SLC48A1
SuperfamilyQ6P1K1
AlphaFold pdb e-kbQ6P1K1   
Human Protein Atlas [tissue]ENSG00000211584-SLC48A1 [tissue]
HPRD07916
Protein Interaction databases
DIP (DOE-UCLA)Q6P1K1
IntAct (EBI)Q6P1K1
BioGRIDSLC48A1
STRING (EMBL)SLC48A1
ZODIACSLC48A1
Ontologies - Pathways
QuickGOQ6P1K1
Ontology : AmiGOprotein binding  lysosomal membrane  lysosomal membrane  plasma membrane  plasma membrane  endosome membrane  heme transmembrane transporter activity  heme transmembrane transporter activity  heme transport  heme transport  heme transport  integral component of membrane  heme binding  heme binding  
Ontology : EGO-EBIprotein binding  lysosomal membrane  lysosomal membrane  plasma membrane  plasma membrane  endosome membrane  heme transmembrane transporter activity  heme transmembrane transporter activity  heme transport  heme transport  heme transport  integral component of membrane  heme binding  heme binding  
NDEx NetworkSLC48A1
Atlas of Cancer Signalling NetworkSLC48A1
Wikipedia pathwaysSLC48A1
Orthology - Evolution
OrthoDB55652
GeneTree (enSembl)ENSG00000211584
Phylogenetic Trees/Animal Genes : TreeFamSLC48A1
Homologs : HomoloGeneSLC48A1
Homology/Alignments : Family Browser (UCSC)SLC48A1
Gene fusions - Rearrangements
Fusion : QuiverSLC48A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC48A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC48A1
dbVarSLC48A1
ClinVarSLC48A1
MonarchSLC48A1
1000_GenomesSLC48A1 
Exome Variant ServerSLC48A1
GNOMAD BrowserENSG00000211584
Varsome BrowserSLC48A1
ACMGSLC48A1 variants
VarityQ6P1K1
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]  
Somatic Mutations in Cancer : COSMIC3DSLC48A1
Mutations and Diseases : HGMDSLC48A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSLC48A1
DgiDB (Drug Gene Interaction Database)SLC48A1
DoCM (Curated mutations)SLC48A1
CIViC (Clinical Interpretations of Variants in Cancer)SLC48A1
Cancer3DSLC48A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612187   
Orphanet
DisGeNETSLC48A1
MedgenSLC48A1
Genetic Testing Registry SLC48A1
NextProtQ6P1K1 [Medical]
GENETestsSLC48A1
Target ValidationSLC48A1
Huge Navigator SLC48A1 [HugePedia]
ClinGenSLC48A1
Clinical trials, drugs, therapy
MyCancerGenomeSLC48A1
Protein Interactions : CTDSLC48A1
Pharm GKB GenePA164725837
PharosQ6P1K1
Clinical trialSLC48A1
Miscellaneous
canSAR (ICR)SLC48A1
HarmonizomeSLC48A1
DataMed IndexSLC48A1
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSLC48A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:31:53 CEST 2021

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