FTH1

Also known as FHC, FTH, FTHL6, HFE5, PIG15, PLIF, ferritin, heavy polypeptide 1, ferritin heavy chain 1

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene. FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.

Gene data

FTH1

Name: ferritin heavy chain 1
Type: protein-coding
Position: 61,959,718–61,967,634 (−)
Aliases: FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF
Ensembl: ENSG00000167996
RefSeq RNA: NM_002032.3
RefSeq protein: NP_002023.2

This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

Pathways

Ferroptosis - Homo sapiens (human)Necroptosis - Homo sapiens (human)Mineral absorption - Homo sapiens (human)Innate Immune System Immune System Membrane Trafficking trans-Golgi Network Vesicle Budding Binding and Uptake of Ligands by Scavenger Receptors Scavenging by Class A Receptors Transport of small molecules

via MyGene.info

Gene · Ensembl

ferritin heavy chain 1

Symbol: FTH1
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:61,959,718-61,967,640
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein FTH1 PDB 1fha.png

Show 6 more facts

HomoloGene ID: 74295
exact match: identifiers.org/ncbigene/2495
genomic end: 61967634
genomic start: 61727190
cytogenetic location: 11q12.3
Commons category: FTH1

Sources (3)

via Wikidata · CC0

~1 min read

Article

5 sections

Contents

Function
Interactions
See also
References
Further reading

Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene. FTH1 gene is located on chromosome 11, and its mutation causes Hemochromatosis type 5.

== Function ==