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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)
Physical map
BRCA2 13q12.3 breast cancer 2, early onset IFIT1P 13q12-q13 interferon-induced protein with tetratricopeptide repeats 1, pseudogene CG018 13q12-q13 hypothetical gene CG018 PRO0297 13q12-q13 hypothetical gene CG018 LOC88523 13q12.3 CG016 CG005 APRIN 13q12.3 androgen-induced proliferation inhibitor LOC122038 13q13.1 similar to Mitochondrial import receptor subunit TOM22 homolog (Translocase of outer membrane 22 kDa subunit homolog) (hTom22) (1C9-2) KL 13q12 klotho LOC387918 13 LOC387918 STARD13 13q12-q13 START domain containing 13 RFC3 13q12.3-q13 replication factor C (activator 1) 3, 38kDa NBEA 13q13 neurobeachin MAB21L1 13q13.1-q13.2 mab-21-like 1 (C. elegans) DCAMKL1 13q12.3-q13 doublecortin and CaM kinase-like 1 FLJ20449 13q13.2 hypothetical protein FLJ20449 LOC387919 13 similar to RIKEN cDNA A730037C10 gene SPG20 13q13.1 spastic paraplegia 20, spartin (Troyer syndrome) LOC387920 13 similar to bA251J8.3.1 (novel protein, isoform 1) CCNA1 13q12.3-q13 cyclin A1 LOC390393 13 similar to glyceraldehyde-3-phosphate dehydrogenase (phosphorylating)  (EC 1.2.1.12) - mouse RFXAP 13q14 regulatory factor X-associated protein MADH9 13q12-q14 MAD, mothers against decapentaplegic homolog 9 (Drosophila) LOC390394 13 similar to eukaryotic translation initiation factor 4A1; initiation factor eIF-4A long form ALG5 13q13.2 asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase) OIP2 13q13.1 Opa-interacting protein 2 P38IP 13q13.2 transcription factor (p38 interacting protein) MGC33182 13q13.2 casein kinase I alpha S-like OSF-2 TRPC4 13q13.1-q13.2 transient receptor potential cation channel, subfamily C, member 4 LOC390395 13 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) BM-002 13q13.3 hypothetical protein BM-002 DKFZp686J0811 13q13.3 hypothetical protein DKFZp686J0811
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