 |
 | Services
| |
 |
Aliases & Descriptions for FTL
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| Ferritin L subunit 2, 3 | | L apoferritin 2 | | ferritin L-chain 2 | | ferritin light chain 2 | | ferritin light polypeptide-like 3 2 | | ferritin, light polypeptide 2 |
|
| | Search outside databases for aliases for FTL genePrevious GC identifers: GC19P050126 GC19P049836 GC19P054145 |
Summaries for FTL(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for FTL: 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] UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity)Gene Wiki entry for FTL (Ferritin_light_chain) |
Genomic Location for FTL
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the FTL gene 
Entrez Gene cytogenetic band: 19q13.3-q13.4|19q13.3 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.3-q13.4FTL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P054160:
(about GC identifiers)
Start:
|
54,160,378 bp from pter |
End:
|
54,161,948 bp from pter |
Size:
|
1,571 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000019.8 NT_011109.15
| Proteins for FTL
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792 (See
protein sequence)Recommended Name: Ferritin light chain Size: 175 amino acids; 20020 Da
Subunit: Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited
PDB structures from and Proteopedia :2FFX (3D)
 2FG4 (3D)
 2FG8 (3D)
 
Secondary accessions: Q7Z2W1 Q9BTZ8REFSEQ proteins: NP_000137.2
ENSEMBL proteins: ENSP00000366525
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: FTL 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for FTL: Assays for FTL: | Protein
Domains/ Families for FTL(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P02792
ProtoNet protein and cluster: P02792 3 Blocks protein families: IPB001519 Ferritin IPB008331 Ferritin and Dps IPB014034 Ferritin
UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792Similarity: Belongs to the ferritin familySimilarity: Contains 1 ferritin-like diiron domain | Gene Function for FTL
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000146
Applied Biosystems Silencer® siRNAs for FTL
Sigma-Aldrich siRNA and siRNA Panels for FTL  Sigma-Aldrich shRNA for FTL  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000146                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000146                                  untagged cDNA clone in CMV expression vector: NM_000146 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000146
UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792Function: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity)Genatlas biochemistry entry for FTL:ferritin,light polypeptide,19kDa,19.9kDa,non-storage protein3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for FTL
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 3 Sigma-Aldrich "Your Favorite Gene" Pathways for FTL (Your Favorite Gene powered by Ingenuity) 
5/49 Interacting proteins for FTL (ENSP000003665253 P027921, 2) via UniProtKB, MINT, and/or STRING (see all 49
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for FTL(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for FTL 10/11 Novoseek chemical compound relationships for FTL gene (see all 11
)
About this table
|
Transcripts for FTL(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000146
Sigma-Aldrich siRNA and siRNA Panels for FTL  Sigma-Aldrich shRNA for FTL  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000146 REFSEQ mRNAs for FTL gene: NM_000146.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000146               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000146                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000146                                  untagged cDNA clone in CMV expression vector: NM_000146  Additional cDNA sequence: Y09188.1 24/157 DOTS entries (see all 157
): DT.97847999 DT.91660269 DT.99926648 DT.92326693 DT.454800 DT.101987514 DT.95274251 DT.95222760 DT.91917348 DT.100735710 DT.91972745 DT.101987515 DT.91972273 DT.95274267 DT.91683650 DT.95274349 DT.100735777 DT.97848029 DT.95274163 DT.99926645 DT.121458314 DT.91972068 DT.100735694 DT.100735761 24/32 AceView cDNA sequences (see all 32
):AF147331 CR596451 AK130205 AK131048 Y09188 CR608406 AK130191 AK131050 BC004245 BC002991 CR610876 NM_000146 AK131053 BC067772 BX571748 M12938 BC021670 BC016346 BC018990 CR456715 AK026534 BC062708 AY466472 BC016354
highest scoring ESTs for FTL:M10119 AA010494 AA025048 AA026532 AA029346 AA031582 AA034969 AA035281 AA036640 AA036903 Unigene Clusters for FTL: Ferritin, light polypeptide Hs.433670 [show with all ESTs], Hs.713706 [show with all ESTs]Unigene Representative Sequences: BF244604, BM918687
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for FTL
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for FTL
1 Ensembl transcript including schematic representation: ENST00000331825
|
Expression for FTL
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| FTL expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for FTL
1 / 2 / 3 8 probe-sets matching FTL gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCCTGGGTTC
SOURCE GeneReport for Unigene clusters: Hs.433670 Hs.713706
Expression variation in blood from EXPOLDB for FTL |
Orthologs for FTL
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for FTL gene from 5/6 species (see all 6
)
About this table Species with no ortholog for FTL
ENSEMBL Gene Tree for FTL | Paralogs for FTL(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for FTL gene
- FTMT2
Pseudogenes
- 1 related pseudogene
|
SNPs/Variants for FTL(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FTL (up to first 250kb)
|
Disorders & Mutations for FTL
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 134790 disorders: 600886 606159 UniProtKB/Swiss-Prot: FRIL_HUMAN, P02792
Defects in FTL are the cause of hereditary hyperferritinemia-cataract syndrome (HHCS) [MIM:600886]. It is an autosomal dominant disease characterized by early-onset bilateral cataract. Affected patients have elevated level of circulating ferritin. HHCS is caused by mutations in the iron responsive element (IRE) of the FTL gene Defects in FTL are the cause of neuroferritinopathy [MIM:606159]; also known as adult-onset basal ganglia disease. It is a movement disorder with heterogeneous presentations starting in the fourth to sixth decade. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels10/16 Novoseek disease relationships for FTL gene (see all 16
)
About this table
GeneTests: FTL Neuroferritinopathy Human Gene Mutation Database: FTL Genetic Association Database: FTL Human Genome Epidemiology Navigator: FTL (8 documents)
|
Medical News for FTL(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FTL (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/195 PubMed articles for FTL gene (see all 195
):- Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. (PubMed id 14615048)1, 3, 6 Felletschin B....Berg D. (2003)
- Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. (PubMed id 16116125)3, 4 Maciel P.... Santos M.M. (2005)
- Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. (PubMed id 15099026)3, 6 Vidal R.... Delisle M.B. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America. (PubMed id 12459518)3, 6 Chen R....Chan P. (2002)
- Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization. (PubMed id 9526618)2, 3 Gasparini P....Zelante L. (1997)
- Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)3, 4 Vladimirov S.N.... Otto A. (1996)
- Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro. (PubMed id 3023856)3, 4 Chou C.-C.... Salser W.A. (1986)
- Cloning of the gene coding for human L apoferritin. (PubMed id 3754330)3, 4 Santoro C.... Silengo L. (1986)
- Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones. (PubMed id 3840162)3, 4 Boyd D.... Drysdale J.W. (1985)
|
Search for FTL
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FTL
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FTL
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FTL(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=FTL | | Wikipedia | http://en.wikipedia.org/wiki/Ferritin |
|
| | | About This Section
| --
| Services for FTL(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for FTL:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for FTL |
|
 |
 | | | Antibodies for FTL |
| |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|