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FLASH GENE
Symbol GC contributors: npt/ - updated : 08-06-2005
HGNC name group-specific component (vitamin D binding protein)
HGNC id 4187
Location 4q13.3      Physical location : 72.607.412 - 72.649.888
Synonym name
  • alglucerase
  • imiglucerase
  • beta-glucocerebrosidase
  • vitamin D-binding alpha-globulin
  • acid beta-glucosidase
  • Synonym symbol(s) VDBG, DBP, VDBP, GLUC, DBP/GC
    EC.number 6.4.-.-, 3.2.1.45
    DNA
    TYPE functioning gene
    STRUCTURE 42.48 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    STATH 4q11-q13 statherin HTN3 4q13 histatin 3 HTN1 4q13.3 histatin 1 FLJ20513 C4orf7 4q13 chromosome 4 open reading frame 7 CSN3 4q13.1-q21.1 casein kappa NYD-SP26 4q13.3 testis development protein NYD-SP26 PROL5 4q13.2 proline rich 5 (salivary) PROL3 4q13.3 proline rich 3 PROL1 4q13.2 proline rich 1 MUC7 4q13-q21 mucin 7, salivary ENAM 4q11-q21 enamelin IGJ 4q21 immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides SAS10 4q13.3 disrupter of silencing 10 RIPX 4q21.1 rap2 interacting protein x GRSF1 4q13 G-rich RNA sequence binding factor 1 MOB4A DCK 4q13.1-q21.1 deoxycytidine kinase SLC4A4 4q21 solute carrier family 4, sodium bicarbonate cotransporter, member 4 GC 4q12-q13 group-specific component (vitamin D binding protein) GPR74 4q13-q21 G protein-coupled receptor 74 ADAMTS3 4q21 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3 LOC391669 4 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ38991 4q21.1 hypothetical protein FLJ38991 ANKRD17 4q13.3 ankyrin repeat domain 17 HMGA1L2 4q21.1 high mobility group AT-hook 1-like 2 ALB 4q11-q13 albumin AFP 4q11-q13 alpha-fetoprotein AFM 4q11-q13 afamin
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1801 51.2 474 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cell lineage
    cell lines
    fluid/secretion plasma, cerebro spinal fluid, urine, ascitic fluid
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three albumin domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Gc
    homolog to C.elegans ZC482.5
    Homologene
    FAMILY
  • albumin family (ALB/AFP/VDB)
  • glycosyl hydrolase 30 family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text secreted
    basic FUNCTION
  • transporting vitamin D and its plasma metabolites to target tissues
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text vitamin/cofactor transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to vitamin D and actin monomer
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS