Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC40A1 (solute carrier family 40 member 1)

Identity

Alias_namesSLC11A3
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3
solute carrier family 40 (iron-regulated transporter), member 1
Alias_symbol (synonym)MTP1
IREG1
FPN1
HFE4
Other aliasMST079
MSTP079
HGNC (Hugo) SLC40A1
LocusID (NCBI) 30061
Atlas_Id 51710
Location 2q32.2  [Link to chromosome band 2q32]
Location_base_pair Starts at 190425316 and ends at 190445537 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GOLIM4 (3q26.2) / SLC40A1 (2q32.2)SLC40A1 (2q32.2) / BCCIP (10q26.2)GOLIM4 3q26.2 / SLC40A1 2q32.2

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)SLC40A1   10909
LRG (Locus Reference Genomic)LRG_837
Cards
Entrez_Gene (NCBI)SLC40A1  30061  solute carrier family 40 member 1
AliasesFPN1; HFE4; IREG1; MST079; 
MSTP079; MTP1; SLC11A3
GeneCards (Weizmann)SLC40A1
Ensembl hg19 (Hinxton)ENSG00000138449 [Gene_View]  chr2:190425316-190445537 [Contig_View]  SLC40A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138449 [Gene_View]  chr2:190425316-190445537 [Contig_View]  SLC40A1 [Vega]
ICGC DataPortalENSG00000138449
TCGA cBioPortalSLC40A1
AceView (NCBI)SLC40A1
Genatlas (Paris)SLC40A1
WikiGenes30061
SOURCE (Princeton)SLC40A1
Genetics Home Reference (NIH)SLC40A1
Genomic and cartography
GoldenPath hg19 (UCSC)SLC40A1  -     chr2:190425316-190445537 -  2q32.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC40A1  -     2q32.2   [Description]    (hg38-Dec_2013)
EnsemblSLC40A1 - 2q32.2 [CytoView hg19]  SLC40A1 - 2q32.2 [CytoView hg38]
Mapping of homologs : NCBISLC40A1 [Mapview hg19]  SLC40A1 [Mapview hg38]
OMIM604653   606069   
Gene and transcription
Genbank (Entrez)AF147322 AF171087 AF215636 AF226614 AF231121
RefSeq transcript (Entrez)NM_014585
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_009027 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)SLC40A1
Cluster EST : UnigeneHs.643005 [ NCBI ]
CGAP (NCI)Hs.643005
Alternative Splicing GalleryENSG00000138449
Gene ExpressionSLC40A1 [ NCBI-GEO ]   SLC40A1 [ EBI - ARRAY_EXPRESS ]   SLC40A1 [ SEEK ]   SLC40A1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC40A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30061
GTEX Portal (Tissue expression)SLC40A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NP59   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NP59  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NP59
Splice isoforms : SwissVarQ9NP59
PhosPhoSitePlusQ9NP59
Domains : Interpro (EBI)Ferroportin-1    MFS_dom   
Domain families : Pfam (Sanger)FPN1 (PF06963)   
Domain families : Pfam (NCBI)pfam06963   
Conserved Domain (NCBI)SLC40A1
DMDM Disease mutations30061
Blocks (Seattle)SLC40A1
SuperfamilyQ9NP59
Human Protein AtlasENSG00000138449
Peptide AtlasQ9NP59
HPRD05229
IPIIPI00005547   IPI00816624   IPI00956672   IPI01012034   IPI00926204   IPI00926591   
Protein Interaction databases
DIP (DOE-UCLA)Q9NP59
IntAct (EBI)Q9NP59
FunCoupENSG00000138449
BioGRIDSLC40A1
STRING (EMBL)SLC40A1
ZODIACSLC40A1
Ontologies - Pathways
QuickGOQ9NP59
Ontology : AmiGOlymphocyte homeostasis  endothelium development  receptor activity  iron ion transmembrane transporter activity  protein binding  intracellular  cytoplasm  multivesicular body  plasma membrane  plasma membrane  integral component of plasma membrane  cellular iron ion homeostasis  cellular iron ion homeostasis  synaptic vesicle  ferrous iron transmembrane transporter activity  integral component of membrane  basolateral plasma membrane  basolateral plasma membrane  peptide hormone binding  regulation of transcription from RNA polymerase II promoter in response to iron  iron ion transmembrane transport  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  spleen trabecula formation  multicellular organismal iron ion homeostasis  iron channel activity  ferrous iron export  
Ontology : EGO-EBIlymphocyte homeostasis  endothelium development  receptor activity  iron ion transmembrane transporter activity  protein binding  intracellular  cytoplasm  multivesicular body  plasma membrane  plasma membrane  integral component of plasma membrane  cellular iron ion homeostasis  cellular iron ion homeostasis  synaptic vesicle  ferrous iron transmembrane transporter activity  integral component of membrane  basolateral plasma membrane  basolateral plasma membrane  peptide hormone binding  regulation of transcription from RNA polymerase II promoter in response to iron  iron ion transmembrane transport  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  spleen trabecula formation  multicellular organismal iron ion homeostasis  iron channel activity  ferrous iron export  
Pathways : KEGGMineral absorption   
NDEx NetworkSLC40A1
Atlas of Cancer Signalling NetworkSLC40A1
Wikipedia pathwaysSLC40A1
Orthology - Evolution
OrthoDB30061
GeneTree (enSembl)ENSG00000138449
Phylogenetic Trees/Animal Genes : TreeFamSLC40A1
HOVERGENQ9NP59
HOGENOMQ9NP59
Homologs : HomoloGeneSLC40A1
Homology/Alignments : Family Browser (UCSC)SLC40A1
Gene fusions - Rearrangements
Fusion : MitelmanGOLIM4/SLC40A1 [3q26.2/2q32.2]  [t(2;3)(q32;q26)]  
Fusion: TCGAGOLIM4 3q26.2 SLC40A1 2q32.2 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC40A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC40A1
dbVarSLC40A1
ClinVarSLC40A1
1000_GenomesSLC40A1 
Exome Variant ServerSLC40A1
ExAC (Exome Aggregation Consortium)SLC40A1 (select the gene name)
Genetic variants : HAPMAP30061
Genomic Variants (DGV)SLC40A1 [DGVbeta]
DECIPHER (Syndromes)2:190425316-190445537  ENSG00000138449
CONAN: Copy Number AnalysisSLC40A1 
Mutations
ICGC Data PortalSLC40A1 
TCGA Data PortalSLC40A1 
Broad Tumor PortalSLC40A1
OASIS PortalSLC40A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC40A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC40A1
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 SLC40A1
DgiDB (Drug Gene Interaction Database)SLC40A1
DoCM (Curated mutations)SLC40A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC40A1 (select a term)
intoGenSLC40A1
Cancer3DSLC40A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604653    606069   
Orphanet16909    16909   
MedgenSLC40A1
Genetic Testing Registry SLC40A1
NextProtQ9NP59 [Medical]
TSGene30061
GENETestsSLC40A1
Huge Navigator SLC40A1 [HugePedia]
snp3D : Map Gene to Disease30061
BioCentury BCIQSLC40A1
ClinGenSLC40A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30061
Chemical/Pharm GKB GenePA35805
Clinical trialSLC40A1
Miscellaneous
canSAR (ICR)SLC40A1 (select the gene name)
Probes
Litterature
PubMed133 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC40A1
EVEXSLC40A1
GoPubMedSLC40A1
iHOPSLC40A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:27:55 CET 2017

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