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FLASH GENE
Symbol GLMN contributors: mct - updated : 08-09-2015
HGNC name glomulin, FKBP associated protein
HGNC id 14373
Corresponding disease
GVM glomuvenous malformations, familial
Location 1p22.1      Physical location : 92.711.956 - 92.764.566
Synonym name
  • FKBP-associated protein isoform 48
  • glomulin
  • venous malformation with glomus cells
  • Synonym symbol(s) GVM, GLML, FAB68, FAP48, FKBPAP, VMGLOM
    DNA
    TYPE functioning gene
    STRUCTURE 195.55 kb     19 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 2042 68 594 - 2003 12604780
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselcapillary    Mus musculus
     vesselvein    Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothvessel   Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • playing a role in differentiation of vascular smooth muscle cells and in vascular morphogenesis especially in cutaneous veins
  • important role for glomulin in blood vessel development and/or maintenance
  • adopts a HEAT-like repeat fold that tightly binds the E2-interacting surface of RBX1, inhibiting CRL-mediated chain formation by the E2 CDC34
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component complex between GLMN, RBX1, and a fragment of CUL1
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with FK506-binding proteins (FKBPs) such as FKBP1A, FKBP4
  • GLMN binds directly to the RING domain of RBX1 and inhibits its E3 ubiquitin ligase activity
  • GLMN modulates the E3 activity of CRL1(FBXW7)
  • functional connection between GLMN and RBX1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GVM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS