ENSG00000167996


Homo sapiens

Features
Gene ID: ENSG00000167996
  
Biological name :FTH1
  
Synonyms : ferritin heavy chain 1 / FTH1 / P02794
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q12.3
Gene start: 61959718
Gene end: 61967660
  
Corresponding Affymetrix probe sets: 200748_s_at (Human Genome U133 Plus 2.0 Array)   214211_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431575
Ensembl peptide - ENSP00000431659
Ensembl peptide - ENSP00000484477
Ensembl peptide - ENSP00000436947
Ensembl peptide - ENSP00000435111
Ensembl peptide - ENSP00000434403
Ensembl peptide - ENSP00000433470
Ensembl peptide - ENSP00000433321
Ensembl peptide - ENSP00000432223
Ensembl peptide - ENSP00000273550
NCBI entrez gene - 2495     See in Manteia.
OMIM - 134770
RefSeq - NM_002032
RefSeq Peptide - NP_002023
swissprot - E9PPQ4
swissprot - E9PKY7
swissprot - E9PKM5
swissprot - E9PK45
swissprot - A0A024R525
swissprot - G3V192
swissprot - G3V1D1
swissprot - E9PRK8
swissprot - P02794
swissprot - E9PQR3
Ensembl - ENSG00000167996
  
Related genetic diseases (OMIM): 615517 - ?Hemochromatosis, type 5, 615517
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fth1aENSDARG00000015551Danio rerio
 fth1bENSDARG00000007975Danio rerio
 FTH1ENSGALG00000007220Gallus gallus
 Fth1ENSMUSG00000024661Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FTMT / Q8N4E7 / ferritin mitochondrialENSG0000018186780
FTHL17 / Q9BXU8 / ferritin heavy chain like 17ENSG0000013244665
FTL / P02792 / ferritin light chainENSG0000008708654


Protein motifs (from Interpro)
Interpro ID Name
 IPR001519  Ferritin
 IPR008331  Ferritin/DPS protein domain
 IPR009040  Ferritin-like diiron domain
 IPR009078  Ferritin-like superfamily
 IPR012347  Ferritin-like
 IPR014034  Ferritin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006826 iron ion transport IEA
 biological_processGO:0006879 cellular iron ion homeostasis TAS
 biological_processGO:0006880 intracellular sequestering of iron ion IDA
 biological_processGO:0006955 immune response ISS
 biological_processGO:0008285 negative regulation of cell proliferation ISS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0048147 negative regulation of fibroblast proliferation IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0097286 iron ion import IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005623 cell IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0008043 intracellular ferritin complex TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0044754 autolysosome IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904724 tertiary granule lumen TAS
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0004322 ferroxidase activity IEA
 molecular_functionGO:0005506 iron ion binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008199 ferric iron binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Scavenging by Class A Receptors
Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Iron uptake and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0003281 Increased serum ferritin 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000168079 Q6ZMJ2 / SCARA5 / scavenger receptor class A member 5  / reaction / complex
 ENSG00000134644 PUM1 / Q14671 / pumilio RNA binding family member 1  / complex
 ENSG00000087086 FTL / P02792 / ferritin light chain  / complex
 ENSG00000113282 CLINT1 / Q14677 / clathrin interactor 1  / complex
 ENSG00000109686 Q5HYK7 / SH3D19 / SH3 domain containing 19  / complex
 ENSG00000167996 FTH1 / P02794 / ferritin heavy chain 1  / complex






 

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