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FLASH GENE
Symbol MAB21L1 contributors: mct - updated : 23-08-2012
HGNC name mab-21-like 1 (C. elegans)
HGNC id 6757
Location 13q13.3      Physical location : 36.047.926 - 36.050.832
Synonym symbol(s) CAGR1, FLJ10197
DNA
TYPE functioning gene
STRUCTURE 2.91 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D13S220 - MAB21L1 - qter
Authors Margolis (96)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2907 - 359 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
Endocrineadrenal gland    
Nervousbrainhindbraincerebellum highly
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text eye, cerebellum development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans cell fate determining gene mab-21
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • may be involved in eye and cerebellum development
  • its expression dependent on PAX6 is essential for lens placode growth and for formation of the lens vesicleand its absence causes reduced expression of FOXE3 in a cell-autonomous manner
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ELF4 (is involved in PTH suppression of osteoblasts through activating the MAP2K4/MAPK8 pathway and subsequently up-regulating MAB21L1 expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism other highly polymorphic CAG repeat(from 5 to 31 triplets), transmitted unstably between generation, exhibiting somatic mosaicism, but not correlated to a clinical phenotype
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS