FTL - ferritin light chain Gene

Also Known as LFTD; NBIA3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2512

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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70245	Ferritin light chain/FTL Protein, Human (His)	P02792 (M1-D175)	≥ 95%, as determined by reducing SDS-PAGE.

FTL Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81275	Ferritin Light Chain Antibody (YA971)	ELISA	Human
HY-P81275A	Ferritin Light Chain Antibody (YA972)	ELISA	Human
HY-P81275AA	Ferritin Light Chain Antibody (YA972)(PBS only)	ELISA	Human
HY-P85608	Ferritin Light Chain Antibody (YA5300)	WB, IHC-P, IF-Tissue	Human

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05134	FTL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P991914	FTL004		/	Unkown

Orthologs Information

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