Fth1 MGI Mouse Gene Detail - MGI:95588 - ferritin heavy polypeptide 1

Symbol

Fth1
Name

ferritin heavy polypeptide 1
Synonyms

FHC, H-ferritin, HFt, MFH

Feature Type

protein coding gene
IDs

MGI:95588
NCBI Gene: 14319
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr19:9957962-9962462 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 6.23 cM, cytoband A-C
Mapping Data

26 experiments

SNPs within 2kb

191 from dbSNP Build 142
Strain Annotations

18
RFLP

8

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95588	protein coding gene	Chr19:9957962-9962475 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024833	protein coding gene	Chr19:7288977-7291366 (+)
A/J	MGP_AJ_G0024801	protein coding gene	Chr19:6785788-6788208 (+)
AKR/J	MGP_AKRJ_G0024776	protein coding gene	Chr19:7062251-7064640 (+)
BALB/cJ	MGP_BALBcJ_G0024801	protein coding gene	Chr19:6831965-6834385 (+)
C3H/HeJ	MGP_C3HHeJ_G0024567	protein coding gene	Chr19:6942439-6944859 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025249	protein coding gene	Chr19:7609291-7611680 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022676	protein coding gene	Chr19:7206182-7208535 (+)
CAST/EiJ	MGP_CASTEiJ_G0024040	protein coding gene	Chr19:6586491-6588924 (+)
CBA/J	MGP_CBAJ_G0024541	protein coding gene	Chr19:7684204-7686593 (+)
DBA/2J	MGP_DBA2J_G0024668	protein coding gene	Chr19:6800679-6803068 (+)
FVB/NJ	MGP_FVBNJ_G0024635	protein coding gene	Chr19:6835395-6837784 (+)
LP/J	MGP_LPJ_G0024755	protein coding gene	Chr19:7268318-7270707 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024662	protein coding gene	Chr19:7579875-7582264 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025297	protein coding gene	Chr19:7088111-7090500 (+)
PWK/PhJ	MGP_PWKPhJ_G0023785	protein coding gene	Chr19:6232083-6234641 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023590	protein coding gene	Chr19:6272130-6274553 (+)
WSB/EiJ	MGP_WSBEiJ_G0024102	protein coding gene	Chr19:6960720-6963140 (+)

Human Ortholog

FTH1, ferritin heavy chain 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FTH1, ferritin heavy chain 1
Synonyms

FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF
Links

HGNC:3976

NCBI Gene ID: 2495

neXtProt AC: NX_P02794

UniProt: P02794
Chr Location

11q12.3; chr11:61959718-61967634 (-) GRCh38

MGI Vertebrate Homology

Fth1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: FTH1
Gene Tree

Fth1

Diseases

2 with human FTH1 associations

				Human Disease	Mouse Models
				hemochromatosis type 5 IDs hemochromatosis type 5 DOID:0111031 ICD10CM:E83.1 OMIM:615517 ORDO:247790
				neurodegeneration with brain iron accumulation IDs neurodegeneration with brain iron accumulation DOID:0110734 MESH:C538421 OMIM:PS234200 ORDO:385 UMLS_CUI:C2931845

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

24 phenotypes from 7 alleles in 7 genetic backgrounds
1 phenotype from multigenic genotypes
44 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Chemically induced (ENU)

1
Endonuclease-mediated

5
Gene trapped

1
Targeted

10
Transgenic

2
Incidental Mutations

APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene die as embryos. Mice heterozygous for a knock-out allele exhibit oxidative stress in neurons.

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All GO Annotations

28
GO References

17

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

972
Tissues

175
cDNA Data

1551
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA FTH1

Xenbase fth1

ZFIN fth1a

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All Sequences

79
RefSeq

3
UniProt

4
CCDS

CCDS29567.1

Ensembl

ENSMUSG00000024661 (Evidence)
NCBI Gene

14319

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024661	Ensembl Gene Model \| MGI Sequence Detail	4501	C57BL/6J	± kb
transcript	ENSMUST00000235196	Ensembl \| MGI Sequence Detail	1494	Not Applicable
polypeptide	ENSMUSP00000158539	Ensembl \| MGI Sequence Detail	182	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000007690 ferritin heavy chain

(term hierarchy)
PDB

3WNW, 5OBA, 5OBB, 6S61, 6SHT, 6V21, 7A4M, 7KOD, 7TB3, 7TBH, 8BK9, 8BKA, 8BKB, 8EMQ, 8EN7, 8J5A, 8PVC, 8RQB, 8T4Q, 8TUE, 9IUY
EC

1.16.3.1
InterPro Domains

IPR001519 Ferritin

IPR014034 Ferritin, conserved site

IPR008331 Ferritin/DPS protein domain

IPR012347 Ferritin-like

IPR009040 Ferritin-like diiron domain

IPR009078 Ferritin-like superfamily
GlyGen

P09528 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 1568

Genomic 7

cDNA 1556

Primer pair 1

Other 4

Microarray probesets 3

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MGD-MRK-9882, MGI:2141526, MGI:2147632

Summaries

All 146

Developmental Gene Expression 15

Gene Ontology 17

Phenotypes 44
Earliest

J:9319 Torti SV, et al., The molecular cloning and characterization of murine ferritin heavy chain, a tumor necrosis factor-inducible gene. J Biol Chem. 1988 Sep 5;263(25):12638-44
Latest

J:348950 Wu Q, et al., Ferritin heavy chain supports stability and function of the regulatory T cell lineage. EMBO J. 2024 Apr;43(8):1445-1483

TSS for Fth1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154995	Chr19:9956154-9956167 (+)	-1,801 bp
Tssr154996	Chr19:9956290-9956321 (+)	-1,656 bp
Tssr154997	Chr19:9957910-9957928 (+)	-43 bp
Tssr154998	Chr19:9957940-9957970 (+)	-7 bp
Tssr154999	Chr19:9958003-9958014 (+)	47 bp
Tssr155000	Chr19:9958046-9958061 (+)	92 bp
Tssr155001	Chr19:9958071-9958080 (+)	114 bp
Tssr155002	Chr19:9958222-9958231 (+)	265 bp
Tssr155003	Chr19:9960058-9960075 (+)	2,105 bp
Tssr155004	Chr19:9960212-9960216 (+)	2,252 bp
Tssr155005	Chr19:9960452-9960482 (+)	2,505 bp
Tssr155006	Chr19:9961542-9961583 (+)	3,601 bp
Tssr155007	Chr19:9961611-9961656 (+)	3,672 bp
Tssr155008	Chr19:9961921-9961947 (+)	3,972 bp
Tssr155009	Chr19:9962267-9962293 (+)	4,318 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24