Gene FTL - ENSG00000087086 | NCBI Gene ID: 2512

Details for: FTL

Gene ID: 2512

Symbol: FTL

Ensembl ID: ENSG00000087086

Description: ferritin light chain

Associated with

Binding and uptake of ligands by scavenger receptors
(R-HSA-2173782)
Golgi associated vesicle biogenesis
(R-HSA-432722)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Iron uptake and transport
(R-HSA-917937)
Membrane trafficking
(R-HSA-199991)
Neutrophil degranulation
(R-HSA-6798695)
Scavenging by class a receptors
(R-HSA-3000480)
Trans-golgi network vesicle budding
(R-HSA-199992)
Transport of small molecules
(R-HSA-382551)
Vesicle-mediated transport
(R-HSA-5653656)
Autolysosome
(GO:0044754)
Azurophil granule lumen
(GO:0035578)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Ferric iron binding
(GO:0008199)
Ferrous iron binding
(GO:0008198)
Identical protein binding
(GO:0042802)
Intracellular ferritin complex
(GO:0008043)
Intracellular iron ion homeostasis
(GO:0006879)
Intracellular sequestering of iron ion
(GO:0006880)
Iron ion binding
(GO:0005506)
Iron ion transport
(GO:0006826)
Membrane
(GO:0016020)
Protein binding
(GO:0005515)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: hepatoblast (CL0005026)
Fold Change: 12.5
Marker Score: 40960
Cell Name: acinar cell (CL0000622)
Fold Change: 5.72
Marker Score: 4038
Cell Name: malignant cell (CL0001064)
Fold Change: 5.68
Marker Score: 76383
Cell Name: secretory cell (CL0000151)
Fold Change: 5.63
Marker Score: 10272
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 5.48
Marker Score: 13931
Cell Name: CD38-negative naive B cell (CL0002102)
Fold Change: 5.37
Marker Score: 11264
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 5.32
Marker Score: 4533
Cell Name: early promyelocyte (CL0002154)
Fold Change: 5.24
Marker Score: 4192
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 5.23
Marker Score: 15251
Cell Name: mature microglial cell (CL0002629)
Fold Change: 5.22
Marker Score: 1886
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 5.17
Marker Score: 91707
Cell Name: mature T cell (CL0002419)
Fold Change: 5.11
Marker Score: 50557
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 5.1
Marker Score: 173375
Cell Name: radial glial cell (CL0000681)
Fold Change: 5.05
Marker Score: 1862
Cell Name: theca cell (CL0000503)
Fold Change: 5.02
Marker Score: 3600.5
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 5.01
Marker Score: 6529.5
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 4.95
Marker Score: 26039
Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
Fold Change: 4.87
Marker Score: 3534
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 4.83
Marker Score: 17151.5
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 4.8
Marker Score: 15149
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 4.75
Marker Score: 7307
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 4.74
Marker Score: 12698
Cell Name: endothelial tip cell (CL0000704)
Fold Change: 4.66
Marker Score: 1085
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 4.66
Marker Score: 260565
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 4.63
Marker Score: 244941
Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: 4.62
Marker Score: 2373
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 4.6
Marker Score: 1100
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 4.46
Marker Score: 5499.5
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 4.42
Marker Score: 6402
Cell Name: granulocyte (CL0000094)
Fold Change: 4.42
Marker Score: 1982
Cell Name: naive T cell (CL0000898)
Fold Change: 4.41
Marker Score: 2838
Cell Name: mesodermal cell (CL0000222)
Fold Change: 4.39
Marker Score: 57912
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 4.38
Marker Score: 5279
Cell Name: blood cell (CL0000081)
Fold Change: 4.38
Marker Score: 50897
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 4.35
Marker Score: 5255
Cell Name: naive B cell (CL0000788)
Fold Change: 4.35
Marker Score: 3881
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 4.34
Marker Score: 4825.5
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 4.33
Marker Score: 10566
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 4.32
Marker Score: 4072
Cell Name: neutrophil (CL0000775)
Fold Change: 4.3
Marker Score: 2620.5
Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
Fold Change: 4.27
Marker Score: 1388
Cell Name: muscle precursor cell (CL0000680)
Fold Change: 4.26
Marker Score: 1104
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 4.26
Marker Score: 11765
Cell Name: fibroblast (CL0000057)
Fold Change: 4.25
Marker Score: 4105
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 4.24
Marker Score: 27651
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 4.23
Marker Score: 5108
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 4.22
Marker Score: 7237
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 4.19
Marker Score: 11747.5
Cell Name: stromal cell (CL0000499)
Fold Change: 4.18
Marker Score: 4897
Cell Name: endothelial cell (CL0000115)
Fold Change: 4.16
Marker Score: 3729
Cell Name: endocrine cell (CL0000163)
Fold Change: 4.16
Marker Score: 2152
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 4.15
Marker Score: 1099
Cell Name: type I NK T cell (CL0000921)
Fold Change: 4.14
Marker Score: 3249
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 4.14
Marker Score: 10434
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 4.13
Marker Score: 2938
Cell Name: myelocyte (CL0002193)
Fold Change: 4.12
Marker Score: 1782
Cell Name: erythroblast (CL0000765)
Fold Change: 4.12
Marker Score: 2572
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 4.11
Marker Score: 26233
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 4.11
Marker Score: 2407
Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 4.1
Marker Score: 3962
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 4.09
Marker Score: 3486
Cell Name: chondrocyte (CL0000138)
Fold Change: 4.09
Marker Score: 1840
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 4.08
Marker Score: 4393
Cell Name: alpha-beta T cell (CL0000789)
Fold Change: 4.08
Marker Score: 3089
Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 4.07
Marker Score: 932
Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 4.05
Marker Score: 1066.5
Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
Fold Change: 4.05
Marker Score: 5966
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 4.05
Marker Score: 9222
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 4.04
Marker Score: 17332
Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
Fold Change: 4.04
Marker Score: 1836
Cell Name: germinal center B cell (CL0000844)
Fold Change: 4.03
Marker Score: 2455
Cell Name: memory T cell (CL0000813)
Fold Change: 4.03
Marker Score: 1731.5
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 4.03
Marker Score: 4301.5
Cell Name: supporting cell (CL0000630)
Fold Change: 4.03
Marker Score: 7568
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 4.01
Marker Score: 3448
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 4
Marker Score: 29742.5
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 3.99
Marker Score: 3925.5
Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 3.98
Marker Score: 4330
Cell Name: club cell (CL0000158)
Fold Change: 3.96
Marker Score: 4626.5
Cell Name: meningeal macrophage (CL0000879)
Fold Change: 3.91
Marker Score: 1101
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 3.89
Marker Score: 1030.5
Cell Name: precursor cell (CL0011115)
Fold Change: 3.88
Marker Score: 942
Cell Name: alternatively activated macrophage (CL0000890)
Fold Change: 3.87
Marker Score: 1611
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 3.86
Marker Score: 33899.5
Cell Name: reticular cell (CL0000432)
Fold Change: 3.86
Marker Score: 1409
Cell Name: ependymal cell (CL0000065)
Fold Change: 3.85
Marker Score: 1342
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 3.84
Marker Score: 3898
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.83
Marker Score: 4387
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 3.83
Marker Score: 1985
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 3.82
Marker Score: 3365
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 3.82
Marker Score: 3638
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 3.81
Marker Score: 3204
Cell Name: platelet (CL0000233)
Fold Change: 3.8
Marker Score: 1721
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 3.8
Marker Score: 1083
Cell Name: starburst amacrine cell (CL0004232)
Fold Change: 3.8
Marker Score: 1078
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 3.79
Marker Score: 3369
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 3.79
Marker Score: 2491.5
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 3.78
Marker Score: 2214
Cell Name: columnar/cuboidal epithelial cell (CL0000075)
Fold Change: 3.77
Marker Score: 998.5
Cell Name: Schwann cell precursor (CL0002375)
Fold Change: 3.74
Marker Score: 931

Hover over a box to see details here...

**Key characteristics:** * The FTL gene is located on chromosome 15q21.1. * It is a single-exon gene that encodes a protein of 139 amino acids. * The FTL protein is a member of the ferritin family of proteins, which are involved in the transport of iron ions in the body. * The FTL protein is expressed in high levels in liver cells, macrophages, and dendritic cells. * It is also expressed in low levels in inflammatory cells, such as neutrophils and macrophages. **Pathways and functions:** * The FTL protein is involved in the binding and uptake of ligands by scavenger receptors. * It is also involved in the extra cellular region of scavenger receptors, where it binds to ligands such as ferritin and lactoferrin. * The FTL protein is also involved in the Golgi associated vesicle biogenesis pathway, where it is sorted into vesicles for transport to the cell surface. * It is involved in the Ferric iron binding pathway, where it binds to ferric iron and facilitates its uptake into the cell. * The FTL protein is also involved in the Intracellular iron ion homeostasis pathway, where it helps to maintain iron ion levels within the cell. **Clinical significance:** Mutations in the FTL gene have been linked to several human diseases, including hemochromatosis, which is a genetic disorder that causes high iron levels in the blood. In hemochromatosis, the FTL protein is mutated, leading to the production of a defective protein that cannot bind to iron ions. This results in the accumulation of iron ions in the cells, which can lead to a variety of health problems, including liver damage, heart disease, and cancer.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Ferritin light chain

Genular Protein ID: 435672394

Symbol: FRIL_HUMAN

Name: Ferritin light chain

UniProtKB Accession Codes:

P02792 B2R4B9 Q6IBT7 Q7Z2W1 Q86WI9 Q8WU07 Q96AU9 Q96CU0 Q9BTZ8

Database IDs:

Citations:

PubMed ID: 3840162

Title: Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones.

PubMed ID: 3840162

DOI: 10.1016/s0021-9258(17)39094-4

PubMed ID: 3858810

Title: Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications.

PubMed ID: 3858810

DOI: 10.1073/pnas.82.10.3139

PubMed ID: 3754330

Title: Cloning of the gene coding for human L apoferritin.

PubMed ID: 3754330

DOI: 10.1093/nar/14.7.2863

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3023856

Title: Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro.

PubMed ID: 3023856

DOI: 10.1128/mcb.6.2.566-573.1986

PubMed ID: 6653779

Title: The amino acid sequence of human liver apoferritin.

PubMed ID: 6653779

DOI: 10.1016/0014-5793(83)80037-4

PubMed ID: 8706699

Title: Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry.

PubMed ID: 8706699

DOI: 10.1111/j.1432-1033.1996.0144u.x

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23940258

Title: Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

PubMed ID: 23940258

DOI: 10.1084/jem.20130315

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 16790936

Title: Structure of human ferritin L chain.

PubMed ID: 16790936

DOI: 10.1107/s0907444906018294

PubMed ID: 19923220

Title: Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration.

PubMed ID: 19923220

DOI: 10.1074/jbc.m109.042986

PubMed ID: 20159981

Title: Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.

PubMed ID: 20159981

DOI: 10.1074/jbc.m109.096404

PubMed ID: 16116125

Title: Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

PubMed ID: 16116125

DOI: 10.1212/01.wnl.0000178224.81169.c2

PubMed ID: 19176363

Title: A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

PubMed ID: 19176363

DOI: 10.3324/haematol.2008.000125

Sequence Information:

Length: 175
Mass: 20020
Checksum: 0DB98081FF976BC2
Sequence:

MSSQIRQNYS TDVEAAVNSL VNLYLQASYT YLSLGFYFDR DDVALEGVSH FFRELAEEKR 
EGYERLLKMQ NQRGGRALFQ DIKKPAEDEW GKTPDAMKAA MALEKKLNQA LLDLHALGSA 
RTDPHLCDFL ETHFLDEEVK LIKKMGDHLT NLHRLGGPEA GLGEYLFERL TLKHD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: FTL

Associated with

Cells (max top 100)

Other Information

Structural and functional relationships of human ferritin H and L chains deduced from cDNA clones. PubMed ID: 3840162

Structure of human ferritin light subunit messenger RNA: comparison with heavy subunit message and functional implications. PubMed ID: 3858810

Cloning of the gene coding for human L apoferritin. PubMed ID: 3754330

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

The DNA sequence and biology of human chromosome 19. PubMed ID: 15057824

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro. PubMed ID: 3023856

The amino acid sequence of human liver apoferritin. PubMed ID: 6653779

Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry. PubMed ID: 8706699

Initial characterization of the human central proteome. PubMed ID: 21269460

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome. PubMed ID: 23940258

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Structure of human ferritin L chain. PubMed ID: 16790936

Unraveling of the E-helices and disruption of 4-fold pores are associated with iron mishandling in a mutant ferritin causing neurodegeneration. PubMed ID: 19923220

Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation. PubMed ID: 20159981

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. PubMed ID: 16116125

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload. PubMed ID: 19176363