Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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