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FLASH GENE
Symbol PGM5 contributors: mct/npt - updated : 27-06-2008
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
    Physical map
    LOC392339 9 similar to hypothetical protein AF038169 LOC392340 9 similar to Rpl7a protein LOC387628 9 hypothetical gene supported by NM_174950 LOC389748 9 similar to Ribosome biogenesis protein BMS1 homolog LOC389749 9 similar to mitochondrial C1-tetrahydrofolate synthase LOC389750 9 hypothetical gene supported by NM_001170 LOC389751 9 similar to bA251O17.3 (similar to aquaporin 7) LOC389752 9 similar to mitochondrial C1-tetrahydrofolate synthase LOC286327 9q21.12 similar to Ribosome biogenesis protein BMS1 homolog MGC42630 9q21.12 hypothetical protein MGC42630 LOC392341 9 similar to Myosin Vb (Myosin 5B) LOC389753 9 similar to phosphoglucomutase 5 LOC389754 9 similar to phosphoglucomutase 5 LOC392342 9 similar to SNAG1 LOC389755 9 similar to cytochrome P-450 LOC392343 9 similar to calponin 2; Calonin 2 LOC389756 9 hypothetical gene supported by BC062701 LOC389757 9 similar to mitochondrial C1-tetrahydrofolate synthase LOC392344 9 similar to Ribosome biogenesis protein BMS1 homolog LOC392345 9 similar to zinc finger protein 91 (HPF7, HTF10) LOC389758 9 similar to chromosome 21 open reading frame 118 LOC392346 9 similar to Ribosome biogenesis protein BMS1 homolog LOC389759 9 hypothetical gene supported by AY344642; NM_199244 LOC389760 9 similar to COBW domain containing protein 3 LOC220869 9q21.13 dopamine responsive protein FOXD4L2 9q21.13 FOXD4-like 2 PGM5 9p12-q12 phosphoglucomutase 5 C9orf71 9q21.13 chromosome 9 open reading frame 71 LOC347097 9q21.13 similar to squamous cell carcinoma antigen recognized by T cells 2 PIP5K1B 9q13 phosphatidylinositol-4-phosphate 5-kinase, type I, beta C9orf42 9q21.13 chromosome 9 open reading frame 42 PRKACG 9q13 protein kinase, cAMP-dependent, catalytic, gamma FRDA 9q13-q21.1 Friedreich ataxia LOC392347 9 similar to adenylate kinase 3 alpha like TJP2 9q13-q21 tight junction protein 2 (zona occludens 2) C9orf61 9q13-q21 chromosome 9 open reading frame 61 APBA1 9q13-q21 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) LOC375743 9q21.13 similar to CG3073-PA LOC138255 9q21.13 similar to RIKEN cDNA 1700028P14 MAMDC2 9q21.2 MAM domain containing 2 RNU2P3 9q21.2 RNA, U2 small nuclear pseudogene 3 SMC5L1 9q21.11 SMC5 structural maintenance of chromosomes 5-like 1 (yeast) BTEB1 9q13 basic transcription element binding protein 1 TRPM3 9q21.13 transient receptor potential cation channel, subfamily M, member 3 LOC392348 9 similar to CDC91 cell division cycle 91-like 1; GPI transamidase component
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3341 62.2 567 - Wakayama (2000)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    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
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS