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FTL ferritin light chain [ Homo sapiens (human) ]

Gene ID: 2512, updated on 16-Feb-2020

Summary

Official Symbol
FTLprovided by HGNC
Official Full Name
ferritin light chainprovided by HGNC
Primary source
HGNC:HGNC:3999
See related
Ensembl:ENSG00000087086 MIM:134790
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LFTD; NBIA3
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]
Expression
Ubiquitous expression in kidney (RPKM 2442.6), spleen (RPKM 2174.9) and 25 other tissues See more
Orthologs

Genomic context

See FTL in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48963941..48966879)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49467659..49470136)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene glycogen synthase 1 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hyperferritinemia cataract syndrome
MedGen: C1833213 OMIM: 600886 GeneReviews: Not available
Compare labs
L-ferritin deficiency
MedGen: C3810090 OMIM: 615604 GeneReviews: Not available
Compare labs
Neuroferritinopathy Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-08-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-08-22)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef Nef-mediated activation of NF-kappaB in macrophages induces secretion of the acute-phase protein ferritin, which is necessary and sufficient for Nef-dependent B cell changes PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ferritin, light polypeptide (FTL) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71996

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ferric iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
iron ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
intracellular sequestering of iron ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
iron ion transport IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
autolysosome IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular ferritin complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
ferritin light chain
Names
epididymis secretory sperm binding protein
ferritin L subunit
ferritin L-chain
ferritin light polypeptide-like 3
ferritin, light polypeptide

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008152.1 RefSeqGene

    Range
    5001..6571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000146.4NP_000137.2  ferritin light chain

    See identical proteins and their annotated locations for NP_000137.2

    Status: REVIEWED

    Source sequence(s)
    AK130191, BC004245
    Consensus CDS
    CCDS33070.1
    UniProtKB/Swiss-Prot
    P02792
    Related
    ENSP00000366525.2, ENST00000331825.11
    Conserved Domains (1) summary
    cd00904
    Location:10169
    Ferritin; Ferritin iron storage proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48963941..48966879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451447.1XP_024307215.1  ferritin light chain isoform X1

    Conserved Domains (1) summary
    cd00904
    Location:180339
    Ferritin; Ferritin iron storage proteins
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