FTL - ferritin light chain Gene

Homo sapiens

Also known as LFTD; NBIA3

Gene ID: 2512 | Gene type: protein coding

About FTL

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:48,965,309-48,966,879 (from NCBI)

This gene has 1 transcript (splice variant), 252 orthologues, 3 paralogues and is associated with 8 phenotypes. Ubiquitous expression in kidney (RPKM 2442.6), spleen (RPKM 2174.9) and 25 other tissues.

Summary

This gene encodes the LIGHT subunit of the ferritin protein. Ferritin is 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 this LIGHT chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]

FTL Products(1)

mRNA	Protein	Name
NM_000146.4	NP_000137.2	ferritin light chain

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA
enables iron ion binding	IDA IDA: Inferred from direct assay	19923220	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in autolysosome	IDA IDA: Inferred from direct assay	25327288	GOA
part of ferritin complex	IDA IDA: Inferred from direct assay	19923220	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FTL Protein Structure

Ferritin

0
100
175 a.a.

Protein Preferred Names

Protein Names

ferritin light chain

epididymis secretory sperm binding protein

FTL Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FTL	P02792	FTH1	Homo sapiens	Q6NZ44	Y2H Prey Pooling	25416956
Intra	FTL	P02792	FTH1	Homo sapiens	Q6NZ44	Y2H Array	25416956
Intra	FTL	P02792	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	FTL	P02792	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	FTL	P02792	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	FTL	P02792	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	FTL	P02792	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	FTL	P02792	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	FTL	P02792	NAMPT	Homo sapiens	P43490	Anti Bait CoIP	18486613
Intra	FTL	P02792	KPNA3	Homo sapiens	O00505	Validated Y2H	25416956
Intra	FTL	P02792	MYOG	Homo sapiens	P15173	Y2H Array	31515488
Intra	FTL	P02792	MYOG	Homo sapiens	P15173	Y2H Array	25416956
Intra	FTL	P02792	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	FTL	P02792	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	FTL	P02792	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Array	25910212
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Array	25416956
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Bait-Prey Pool	25910212
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Pooling	16169070
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H	21516116
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Validated Y2H	25910212
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Array	31515488
Intra	FTL	P02792	FTH1	Homo sapiens	P02794	Y2H Prey Pooling	25416956
Intra	FTL	P02792	FTL	Homo sapiens	P02792	X-Ray Diffraction	16790936
Intra	FTL	P02792	FTL	Homo sapiens	P02792	Y2H Prey Pooling	25416956
Intra	FTL	P02792	FTL	Homo sapiens	P02792	Y2H Pooling	16189514
Intra	FTL	P02792	FTL	Homo sapiens	P02792	Y2H Pooling	16169070
Intra	FTL	P02792	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	FTL	P02792	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	FTL	P02792	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	FTL	P02792	SDCBP	Homo sapiens	O00560	Anti Tag CoIP	33961781
Intra	FTL	P02792	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	FTL	P02792	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956
Intra	FTL	P02792	USHBP1	Homo sapiens	Q8N6Y0	Y2H Prey Pooling	25416956
Intra	FTL	P02792	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	FTL	P02792	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	FTL	P02792	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	FTL	P02792	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	FTL	P02792	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
Intra	FTL	P02792	SNCA	Homo sapiens	P37840	Y2H Array	32814053
Intra	FTL	P02792	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053
Intra	FTL	P02792	PSENEN	Homo sapiens	Q9NZ42	Anti Bait CoIP	23685131
Intra	FTL	P02792	PSENEN	Homo sapiens	Q9NZ42	Y2H	23685131

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FTL Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70245	Ferritin light chain/FTL Protein, Human (His)	P02792 (M1-D175)	≥95%

Related Diseases

Diseases

Alias

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome	Hhcs
Hereditary Hyperferritinemia With Congenital Cataracts	Hyperferritinemia, Hereditary, With Congenital Cataracts
Bonneau-Beaumont Syndrome	HRFTC
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract-Hyperferritinemia Syndrome
Hyperferritinemia Cataract Syndrome	Hereditary Hyperferritinemia Cataract Syndrome

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

L-Ferritin Deficiency

LFTD	L-Ferritin Deficiency, Dominant And Recessive
L-Ferritin Deficiency Dominant And Recessive

Genetic Hyperferritinemia Without Iron Overload

Benign Hyperferritinemia

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Iron Metabolism Disease

Iron Deficiency	Iron Disorder
Iron Metabolism Disorders	Disorder Of Iron Metabolism
Iron	Fe Deficiency
Iron Storage Disease	Iron Storage Disorder

Hemochromatosis, Type 2b

Hemochromatosis Type 2b	HFE2B
Hemochromatosis 2b

Iron Deficiency Anemia

Iron-Deficiency Anemia	Fe Deficiency Anaemia
Ida - [Iron Deficiency Anemia]	Fe - [Iron] Deficiency Anemia Nos

Movement Disease

Movement Disorders

Movement Disorder

Hemochromatosis, Type 5

Hemochromatosis Type 5	HFE5
Fth1-Related Iron Overload	Iron Overload, Autosomal Dominant
Fth1-Associated Iron Overload	Hemochromatosis 5
Autosomal Dominant Iron Overload

Macrophage Activation Syndrome

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Neurodegeneration With Brain Iron Accumulation 2a

Infantile Neuroaxonal Dystrophy	Plan
Seitelberger Disease	Inad
Infantile Neuroaxonal Dystrophy 1	Inad1
Pla2g6-Associated Neurodegeneration	NBIA2A
Neuroaxonal Dystrophy, Infantile	Neurodegeneration, Pla2g6-Associated
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Phospholipase A2-Associated Neurodegeneration
Nbia2	Pla2g6-Related Disorders
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy	Karak Syndrome, Included
Nbia2b	Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation 2b	Nbia, Pla2g6-Related
Seitelberger'S Disease	Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile	Neurodegeneration, With Brain Iron Accumulation, Type 2a
Neuroaxonal Dystrophies	Neurodegeneration With Brain Iron Accumulation 2

Friedreich Ataxia 2

FRDA2

Friedreich Ataxia, Type 2

Neurodegeneration With Brain Iron Accumulation 1

Pantothenate Kinase-Associated Neurodegeneration	Pkan
NBIA1	Hallervorden-Spatz Disease
Hallervorden-Spatz Syndrome	Pigmentary Pallidal Degeneration
Neuroaxonal Dystrophy, Late Infantile	Neurodegeneration With Brain Iron Accumulation Type 1
Classic Pantothenate Kinase-Associated Neurodegeneration	Pkan Neuroaxonal Dystrophy, Juvenile-Onset
Brain Iron Accumulation Type I Syndrome	Nbia
Neurodegeneration With Brain Iron Accumulation	Nbia1, Classic Form
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form	Pkan, Classic Form
Atypical Pantothenate Kinase-Associated Neurodegeneration	Nbia1, Atypical Form
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form	Pkan, Atypical Form
Hss	Pkan Neuroaxonal Dystrophy Juvenile-Onset
Neurodegeneration, With Brain Iron Accumulation, Type 1

Neurodegeneration With Brain Iron Accumulation 2b

NBIA2B	Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
Neuroaxonal Dystrophy, Atypical	Karak Syndrome
Atypical Neuroaxonal Dystrophy	Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
Neurodegeneration, With Brain Iron Accumulation, Type 2b	Neurodegeneration With Brain Iron Accumulation 2

Malignant Iris Melanoma

Malignant Melanoma Of Iris

Melanoma Of The Iris

Spastic Paraplegia 38, Autosomal Dominant

SPG38	Hereditary Spastic Paraplegia 38
Autosomal Dominant Spastic Paraplegia Type 38	Autosomal Dominant Spastic Paraplegia 38

Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome	Woodhouse Sakati Syndrome
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome	WDSKS
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia	Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia	Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
Neuroectodermal Endocrine Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome	Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
Wss

Beta-Thalassemia

Beta Thalassemia	Cooley'S Anemia
Mediterranean Anemia	Beta Thalassemia Intermedia
Erythroblastic Anemia	Thalassemia, Hispanic Gamma-Delta-Beta
Thalassemia Major	Thalassemia Minor
Beta-Plus-Thalassemia	Thalassemia, Beta
Beta Thalassemia Major	Beta Thalassemia Minor
Thalassemias, Beta-	Microcytemia, Beta Type
Thalassemia, Beta Type	B-THAL
Mediterranean Anaemia	Beta Thalassaemia Syndrome
Mediterranean Disease	Beta Thalassaemia Disease

Pancytopenia

Hemochromatosis, Type 4

Hemochromatosis Type 4	Hemochromatosis Due To Defect In Ferroportin
HFE4	Hemochromatosis, Autosomal Dominant
Autosomal Dominant Hereditary Hemochromatosis	Ferroportin Disease
Hemochromatosis 4	Hemochromatosis Autosomal Dominant

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Arthropathy

Ankylosis Of Ankle And Foot Joint	Ankylosis Of Forearm Joint
Ankylosis Of Hand Joint	Ankylosis Of Joint Of Ankle And/Or Foot
Ankylosis Of Joint Of Forearm	Ankylosis Of Joint Of Hand
Ankylosis Of Joint Of Lower Leg	Ankylosis Of Joint Of Multiple Sites
Ankylosis Of Joint Of Pelvic Region And Thigh	Ankylosis Of Joint Of Shoulder Region
Ankylosis Of Joint Of Upper Arm	Ankylosis Of Lower Leg Joint
Ankylosis Of Multiple Joints	Ankylosis Of Upper Arm Joint
Infectious Arthropathy	Joint Ankylosis Of The Ankle And Foot
Joint Ankylosis Of The Ankle And/Or Foot	Joint Ankylosis Of The Forearm
Joint Ankylosis Of The Hand	Joint Ankylosis Of The Lower Leg
Joint Ankylosis Of The Pelvic Region And Thigh	Joint Ankylosis Of The Shoulder Region
Joint Ankylosis Of The Upper Arm	Joint Diseases
Joint Disease	Arthropathy Associated With Infection

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Choreatic Disease

Chorea

Hereditary Chorea

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Hemochromatosis Type 2

Juvenile Hemochromatosis	Juvenile Hereditary Hemochromatosis
Hfe2	Jhh
Hemochromatosis Juvenile	Iron Overload Disease Juvenile
Hemochromatosis, Juvenile	Hemochromatosis, Type 2
Hemochromatosis	Hemochromatosis, Type 1

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05134	FTL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FTL	RGD	RGD:61813
Mus musculus	FTL	MGD	MGI:95589
Others	FTL	NCBI