Ftl1 MGI Mouse Gene Detail - MGI:95589 - ferritin light polypeptide 1

Symbol

Ftl1
Name

ferritin light polypeptide 1
Synonyms

Ftl, L-ferritin

Feature Type

protein coding gene
IDs

MGI:95589
NCBI Gene: 14325
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:45107368-45109308 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 29.32 cM
Mapping Data

4 experiments

SNPs within 2kb

127 from dbSNP Build 142
Strain Annotations

16
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95589	protein coding gene	Chr7:45107368-45109310 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032223	protein coding gene	Chr7:45721128-45724303 (-)
A/J	MGP_AJ_G0032202	protein coding gene	Chr7:44844587-44846701 (-)
AKR/J	MGP_AKRJ_G0032138	protein coding gene	Chr7:46088783-46090217 (-)
BALB/cJ	MGP_BALBcJ_G0032214	protein coding gene	Chr7:44833702-44835914 (-)
C3H/HeJ	no annotation
C57BL/6NJ	MGP_C57BL6NJ_G0032706	protein coding gene	Chr7:47990591-47995147 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029720	protein coding gene	Chr7:47393031-47394947 (-)
CAST/EiJ	MGP_CASTEiJ_G0031258	protein coding gene	Chr7:37996874-37999856 (-)
CBA/J	MGP_CBAJ_G0031894	protein coding gene	Chr7:49573778-49578569 (-)
DBA/2J	MGP_DBA2J_G0032052	protein coding gene	Chr7:44508115-44510062 (-)
FVB/NJ	MGP_FVBNJ_G0032003	protein coding gene	Chr7:44292830-44294830 (-)
LP/J	MGP_LPJ_G0032130	protein coding gene	Chr7:46419134-46420904 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032040	protein coding gene	Chr7:48270049-48271562 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032722	protein coding gene	Chr7:45301040-45304309 (-)
PWK/PhJ	no annotation
SPRET/EiJ	MGP_SPRETEiJ_G0030818	protein coding gene	Chr7:33309055-33310825 (-)
WSB/EiJ	MGP_WSBEiJ_G0031375	protein coding gene	Chr7:45797341-45799270 (-)

Human Ortholog

FTL, ferritin light chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FTL, ferritin light chain
Synonyms

FTL1, LFTD, NBIA3
Links

HGNC:3999

NCBI Gene ID: 2512

neXtProt AC: NX_P02792

UniProt: P02792
Chr Location

19q13.33; chr19:48965309-48966879 (+) GRCh38

MGI Vertebrate Homology

Ftl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FTL
Gene Tree

Ftl1

Diseases

4 with human FTL associations

				Human Disease	Mouse Models
				basal ganglia disease IDs basal ganglia disease DOID:679 MESH:D001480 UMLS_CUI:C0004782
				hyperferritinemia-cataract syndrome IDs hyperferritinemia-cataract syndrome DOID:0111256 MESH:C538137 OMIM:600886 ORDO:163 UMLS_CUI:C1833213
				neurodegeneration with brain iron accumulation 3 IDs neurodegeneration with brain iron accumulation 3 DOID:0110737 MESH:C548080 OMIM:606159 ORDO:157846 UMLS_CUI:C1853578
				neurodegenerative disease IDs neurodegenerative disease DOID:1289 DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI:C27090 UMLS_CUI:C0524851 UMLS_CUI:C1285162

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

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Phenotype Summary

15 phenotypes from 2 alleles in 2 genetic backgrounds
1 phenotype from multigenic genotypes
9 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

7
Endonuclease-mediated

3
Gene trapped

1
Targeted

3
Incidental Mutations

APF
Find Mice (IMSR)

9 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display partial lethality during organogenesis, decreased circulating, liver and reticuloendothelial cell iron levels, head tilt, and unidirectional circling.

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All GO Annotations

14
GO References

8

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

720
Tissues

11
cDNA Data

37
Literature Summary

9

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

86
RefSeq

2
UniProt

1
CCDS

CCDS39952.1

Ensembl

ENSMUSG00000050708 (Evidence)
NCBI Gene

14325

			Length	Strain/Species	Flank
genomic	ENSMUSG00000050708	Ensembl Gene Model \| MGI Sequence Detail	1941	C57BL/6J	± kb
transcript	ENSMUST00000094434	Ensembl \| MGI Sequence Detail	968	Not Applicable
polypeptide	ENSMUSP00000092002	Ensembl \| MGI Sequence Detail	183	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007738 ferritin light chain 1

(term hierarchy)

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All nucleic 43

Genomic 1

cDNA 41

Primer pair 1

Microarray probesets 3

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MGD-MRK-9885, MGD-MRK-9886, MGD-MRK-9888

Summaries

All 62

Developmental Gene Expression 9

Gene Ontology 8

Phenotypes 9
Earliest

J:9732 Beaumont C, et al., Transcriptional regulation of ferritin H and L subunits in adult erythroid and liver cells from the mouse. Unambiguous identification of mouse ferritin subunits and in vitro formation of the ferritin shells. J Biol Chem. 1989 May 5;264(13):7498-504
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ftl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr72400	Chr7:45110384-45110401 (-)	-1,085 bp
Tssr72399	Chr7:45110346-45110370 (-)	-1,050 bp
Tssr72398	Chr7:45109263-45109305 (-)	24 bp
Tssr72397	Chr7:45109112-45109155 (-)	174 bp
Tssr72396	Chr7:45108855-45108881 (-)	440 bp
Tssr72395	Chr7:45108823-45108849 (-)	472 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