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FLASH GENE
Symbol PGM5 contributors: mct/npt - updated : 23-05-2015
HGNC name phosphoglucomutase 5
HGNC id 8908
Location 9q13      Physical location : 70.971.814 - 71.145.976
Synonym name
  • phosphoglucomutase-related protein
  • aciculin
  • Synonym symbol(s) PGMRP
    EC.number 5.2.2.2
    DNA
    TYPE functioning gene
    STRUCTURE 174.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • lacks a conventional TATA box, but there are multiple transcription start sites, the most predominant of which are inside an initiator sequence (Inr), which is close to two CT boxes and a GATA element
  • promoter may have acquired negative regulatory elements as expression of the gene became muscle-specific
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3341 62.2 567 - Wakayama (2000)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly Homo sapiens
    Reproductivefemale systemuterus  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    intraspecies homolog to PGM1
    Homologene
    FAMILY
  • phosphohexose mutase family
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • adherens junction antigen associating biochemically with dystrophin
  • lack enzyme activity, but has established structural roles in myofibril assembly and maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associated with dystrophin and may interact with both the N- and C-terminal domains of dystrophin
  • is a binding partner for dystrophin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS