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FTH1 (ferritin heavy chain 1)

Identity

Alias_namesFTHL6
ferritin
Alias_symbol (synonym)FTH
PLIF
PIG15
FHC
Other aliasHFE5
HGNC (Hugo) FTH1
LocusID (NCBI) 2495
Atlas_Id 46107
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 61964285 and ends at 61967660 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BLCAP (20q11.23) / FTH1 (11q12.3)FAM162A (3q21.1) / FTH1 (11q12.3)FTH1 (11q12.3) / AVL9 (7p14.3)
FTH1 (11q12.3) / BCYRN1 (Xq13.1)FTH1 (11q12.3) / CAPNS1 (19q13.12)FTH1 (11q12.3) / EIF5A (17p13.1)
FTH1 (11q12.3) / EXTL2 (1p21.2)FTH1 (11q12.3) / FAM162A (3q21.1)FTH1 (11q12.3) / FBL (19q13.2)
FTH1 (11q12.3) / FTH1P3 (2p23.3)FTH1 (11q12.3) / NUP107 (12q15)LOC100507412 (-) / FTH1 (11q12.3)
ORAOV1 (11q13.3) / FTH1 (11q12.3)PYGO2 (1q21.3) / FTH1 (11q12.3)SLC16A3 (17q25.3) / FTH1 (11q12.3)

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)FTH1   3976
Cards
Entrez_Gene (NCBI)FTH1  2495  ferritin heavy chain 1
AliasesFHC; FTH; FTHL6; HFE5; 
PIG15; PLIF
GeneCards (Weizmann)FTH1
Ensembl hg19 (Hinxton)ENSG00000167996 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167996 [Gene_View]  chr11:61964285-61967660 [Contig_View]  FTH1 [Vega]
ICGC DataPortalENSG00000167996
TCGA cBioPortalFTH1
AceView (NCBI)FTH1
Genatlas (Paris)FTH1
WikiGenes2495
SOURCE (Princeton)FTH1
Genetics Home Reference (NIH)FTH1
Genomic and cartography
GoldenPath hg38 (UCSC)FTH1  -     chr11:61964285-61967660 -  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FTH1  -     11q12.3   [Description]    (hg19-Feb_2009)
EnsemblFTH1 - 11q12.3 [CytoView hg19]  FTH1 - 11q12.3 [CytoView hg38]
Mapping of homologs : NCBIFTH1 [Mapview hg19]  FTH1 [Mapview hg38]
OMIM134770   615517   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_002032
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FTH1
Cluster EST : UnigeneHs.645560 [ NCBI ]
CGAP (NCI)Hs.645560
Alternative Splicing GalleryENSG00000167996
Gene ExpressionFTH1 [ NCBI-GEO ]   FTH1 [ EBI - ARRAY_EXPRESS ]   FTH1 [ SEEK ]   FTH1 [ MEM ]
Gene Expression Viewer (FireBrowse)FTH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2495
GTEX Portal (Tissue expression)FTH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02794   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02794  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02794
Splice isoforms : SwissVarP02794
Catalytic activity : Enzyme1.16.3.1 [ Enzyme-Expasy ]   1.16.3.11.16.3.1 [ IntEnz-EBI ]   1.16.3.1 [ BRENDA ]   1.16.3.1 [ KEGG ]   
PhosPhoSitePlusP02794
Domaine pattern : Prosite (Expaxy)FERRITIN_1 (PS00540)    FERRITIN_2 (PS00204)    FERRITIN_LIKE (PS50905)   
Domains : Interpro (EBI)Ferritin    Ferritin-like_diiron    Ferritin-like_SF    Ferritin-rel    Ferritin_CS    Ferritin_DPS_dom   
Domain families : Pfam (Sanger)Ferritin (PF00210)   
Domain families : Pfam (NCBI)pfam00210   
Conserved Domain (NCBI)FTH1
DMDM Disease mutations2495
Blocks (Seattle)FTH1
PDB (SRS)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
PDB (PDBSum)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
PDB (IMB)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
PDB (RSDB)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
Structural Biology KnowledgeBase1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
SCOP (Structural Classification of Proteins)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
CATH (Classification of proteins structures)1FHA    2CEI    2CHI    2CIH    2CLU    2CN6    2CN7    2FHA    2IU2    2Z6M    3AJO    3AJP    3AJQ    3ERZ    3ES3    4DYX    4DYY    4DYZ    4DZ0    4OYN    4Y08    4YKH    4ZJK    5CMQ    5CMR    5GN8    5JKL    5JKM   
SuperfamilyP02794
Human Protein AtlasENSG00000167996
Peptide AtlasP02794
HPRD00615
IPIIPI00554521   IPI01013419   IPI00955958   IPI00985402   IPI00984759   IPI00982137   IPI01010800   IPI00982777   IPI00981633   IPI00978197   IPI00978803   
Protein Interaction databases
DIP (DOE-UCLA)P02794
IntAct (EBI)P02794
FunCoupENSG00000167996
BioGRIDFTH1
STRING (EMBL)FTH1
ZODIACFTH1
Ontologies - Pathways
QuickGOP02794
Ontology : AmiGOferroxidase activity  iron ion binding  protein binding  extracellular region  nucleus  mitochondrion  cytosol  cellular iron ion homeostasis  intracellular sequestering of iron ion  immune response  intracellular ferritin complex  ferric iron binding  negative regulation of cell proliferation  neutrophil degranulation  autolysosome  negative regulation of fibroblast proliferation  oxidation-reduction process  extracellular exosome  iron ion import  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIferroxidase activity  iron ion binding  protein binding  extracellular region  nucleus  mitochondrion  cytosol  cellular iron ion homeostasis  intracellular sequestering of iron ion  immune response  intracellular ferritin complex  ferric iron binding  negative regulation of cell proliferation  neutrophil degranulation  autolysosome  negative regulation of fibroblast proliferation  oxidation-reduction process  extracellular exosome  iron ion import  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : KEGGPorphyrin and chlorophyll metabolism    Mineral absorption   
NDEx NetworkFTH1
Atlas of Cancer Signalling NetworkFTH1
Wikipedia pathwaysFTH1
Orthology - Evolution
OrthoDB2495
GeneTree (enSembl)ENSG00000167996
Phylogenetic Trees/Animal Genes : TreeFamFTH1
HOVERGENP02794
HOGENOMP02794
Homologs : HomoloGeneFTH1
Homology/Alignments : Family Browser (UCSC)FTH1
Gene fusions - Rearrangements
Fusion : MitelmanFTH1/EIF5A [11q12.3/17p13.1]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFTH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FTH1
dbVarFTH1
ClinVarFTH1
1000_GenomesFTH1 
Exome Variant ServerFTH1
ExAC (Exome Aggregation Consortium)FTH1 (select the gene name)
Genetic variants : HAPMAP2495
Genomic Variants (DGV)FTH1 [DGVbeta]
DECIPHERFTH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFTH1 
Mutations
ICGC Data PortalFTH1 
TCGA Data PortalFTH1 
Broad Tumor PortalFTH1
OASIS PortalFTH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFTH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFTH1
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch FTH1
DgiDB (Drug Gene Interaction Database)FTH1
DoCM (Curated mutations)FTH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FTH1 (select a term)
intoGenFTH1
Cancer3DFTH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134770    615517   
Orphanet19546   
MedgenFTH1
Genetic Testing Registry FTH1
NextProtP02794 [Medical]
TSGene2495
GENETestsFTH1
Target ValidationFTH1
Huge Navigator FTH1 [HugePedia]
snp3D : Map Gene to Disease2495
BioCentury BCIQFTH1
ClinGenFTH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2495
Chemical/Pharm GKB GenePA28392
Clinical trialFTH1
Miscellaneous
canSAR (ICR)FTH1 (select the gene name)
Probes
Litterature
PubMed144 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFTH1
EVEXFTH1
GoPubMedFTH1
iHOPFTH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:34:29 CEST 2017

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