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FLASH GENE
Symbol AMMECR1 contributors: mct - updated : 11-10-2017
HGNC name Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1
HGNC id 467
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 female systemplacenta  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal region rich in glycine and serine residues
  • six putative PKRC sites of phosphorylation
  • six aminoacids (LRGCIG) highly conserved sequences
    • HOMOLOGY
    interspecies ortholog to murine Ammecr1
    homolog to Drosophila CG5902
    homolog to C.elegans R166.3
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potentially nuclear neutral, soluble, unstable protein playing a role in regulation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMME
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS