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Symbol NIF3L1 contributors: mct - updated : 20-06-2005
HGNC name NIF3 NGG1 interacting factor 3-like 1 (S. pombe)
HGNC id 13390
Location 2q33-q34      Physical location : 201.754.049 - 201.768.655
Synonym name amyotrophic lateral sclerosis 1 (juvenile) chromosome region candidate 1
Synonym symbol(s) ALS2CR1, MDS015, CALS-7, NIF3L
DNA
TYPE functioning gene
STRUCTURE 14.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see ALS2CR2
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain    
 spinal cord    
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Lymphoid    
Muscularstriatumskeletal  
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to yeast Ngg1-interacting factor 3 (Nif3)
Homologene
FAMILY NIF3 family
CATEGORY regulatory
SUBCELLULAR LOCALIZATION extracellular
    intracellular
intracellular,cytoplasm,organelle,mitochondria
basic FUNCTION
  • involved in neuronal differentiation
  • implicated in neural differentiation through the cooperation with COPS2 (Akiyama 2003)
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with WBSCR14
  • binding partner of THOC7 (Tascou 2003)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS