KEGG   Homo sapiens (human): 2512
Entry
2512              CDS       T01001                                 

Gene name
FTL, LFTD, NBIA3
Definition
(RefSeq) ferritin light chain
  KO
K13625  ferritin light chain
Organism
hsa  Homo sapiens (human)
Pathway
hsa04216  Ferroptosis
hsa04217  Necroptosis
hsa04978  Mineral absorption
Disease
H00833  Neurodegeneration with brain iron accumulation
H01779  Neuroferritinopathy
H02204  Hereditary hyperferritinaemia-cataract syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04216 Ferroptosis
    2512 (FTL)
   04217 Necroptosis
    2512 (FTL)
 09150 Organismal Systems
  09154 Digestive system
   04978 Mineral absorption
    2512 (FTL)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2512 (FTL)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   2512 (FTL)
SSDB
Motif
Pfam: Ferritin ANAPC4 EIAV_Rev
Other DBs
NCBI-GeneID: 2512
NCBI-ProteinID: NP_000137
OMIM: 134790
HGNC: 3999
Ensembl: ENSG00000087086
Vega: OTTHUMG00000183332
Pharos: P02792(Tbio)
UniProt: P02792 A0A384MDR3
Structure
PDB: 
3KXU 2FFX 5LG8 2FG4 2FG8

Position
19q13.33
AA seq 175 aa
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKR
EGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSA
RTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD
NT seq 528 nt   +upstreamnt  +downstreamnt
atgagctcccagattcgtcagaattattccaccgacgtggaggcagccgtcaacagcctg
gtcaatttgtacctgcaggcctcctacacctacctctctctgggcttctatttcgaccgc
gatgatgtggctctggaaggcgtgagccacttcttccgcgaattggccgaggagaagcgc
gagggctacgagcgtctcctgaagatgcaaaaccagcgtggcggccgcgctctcttccag
gacatcaagaagccagctgaagatgagtggggtaaaaccccagacgccatgaaagctgcc
atggccctggagaaaaagctgaaccaggcccttttggatcttcatgccctgggttctgcc
cgcacggacccccatctctgtgacttcctggagactcacttcctagatgaggaagtgaag
cttatcaagaagatgggtgaccacctgaccaacctccacaggctgggtggcccggaggct
gggctgggcgagtatctcttcgaaaggctcactctcaagcacgactaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (149)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (127)   
   OC (1)   
   PHAROS (1)   
   PROTHERM (11)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (63)   
   RefSeq(nuc) (1)   
   GenBank (31)   
   EMBL (31)   
Protein domain (3)   
   Pfam (3)   
All databases (232)   

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