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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
    Physical map
    BARHL2 1p22 BarH-like 2 (Drosophila) LOC388648 1 LOC388648 LOC343474 1p22.2 similar to Phosphorylase B kinase alpha regulatory chain, skeletal muscle isoform (Phosphorylase kinase alpha M subunit) KIAA1221 1p22.1 similar to Phosphorylase B kinase alpha regulatory chain, skeletal muscle isoform (Phosphorylase kinase alpha M subunit) BM-005 LOC391054 1 similar to ribosomal protein L5; 60S ribosomal protein L5 FLJ36760 1p22.2 FLJ36760 protein LOC284696 1p22.2 similar to flap structure-specific endonuclease 1; maturation factor-1; DNase IV LOC391055 1 similar to hypothetical protein LOC164045 1p22.2 hypothetical protein LOC164045 CDC7 1p22 CDC7 cell division cycle 7 (S. cerevisiae) LOC391056 1 similar to RIKEN cDNA 9430077D24 gene TRAP2 1p22 tumor rejection antigen (gp96) pseudogene 2 TGFBR3 1p33-p32 transforming growth factor, beta receptor III (betaglycan, 300kDa) BRDT 1p21-p22 bromodomain, testis-specific ABHD7 1p22.1 abhydrolase domain containing 7 LOC339526 1p22.1 similar to hypothetical protein FLJ20481 LOC126598 1p22.1 similar to template acyivating factor-I alpha LOC284697 1p22.1 similar to agCP5986 KIAA1107 1p22.1 KIAA1107 protein LOC388649 1 similar to 1700028K03 protein GLMN 1p22.1 glomulin, FKBP associated protein FLJ13150 1p22.1 hypothetical protein FLJ13150 GFI1 1p22 growth factor independent 1 EVI5 1p22 ecotropic viral integration site 5 RPL5 1p22.1-p21.3 ribosomal protein L5 LOC388650 1 similar to RIKEN cDNA 2900024C23 M96 1p22.1 likely ortholog of mouse metal response element binding transcription factor 2 CGI-100 1pter-q31.3 CGI-100 protein NY-SAR-41 1p22.1 sarcoma antigen NY-SAR-41 DR1 1p22.1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) FLJ20275 BCAR3 1p22.1 breast cancer anti-estrogen resistance 3 LOC388651 1 LOC388651
    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