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FLASH GENE
Symbol GGCX contributors: mlc - updated : 14-11-2007
HGNC name gamma-glutamyl carboxylase
HGNC id 4247
Corresponding disease
GGCXD combined deficiency of vitamin K-dependent clotting factors
Location 2p12      Physical location : 85.776.192 - 85.788.657
Synonym name vitamin K-dependent gamma-carboxylase
Synonym symbol(s) VKCFD1, FLJ26629
EC.number 6.4.-.-
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 12.00 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
SUCLG1 2p11.2 succinate-CoA ligase, GDP-forming, alpha subunit FLJ37357 2p11.2 hypothetical protein FLJ37357 LOC200383 2p11.2 similar to Dynein heavy chain at 16F FLJ23529 2p11.2 hypothetical protein FLJ23529 LOC129293 2p11.2 hypothetical protein LOC129293 TMSB10 2p11.2 thymosin, beta 10 KCMF1 2p11.2 potassium channel modulatory factor 1 LOC391388 2 hypothetical gene supported by AJ238095; NM_014463 TCF7L1 2p11.2 transcription factor 7-like 1 (T-cell specific, HMG-box) LOC388966 2 similar to hypothetical protein FLJ20296 TGOLN2 2p11.2 trans-golgi network protein 2 LOC388967 2 LOC388967 LOC388968 2 similar to Phosphatidylethanolamine-binding protein (PEBP) (Prostatic binding protein) (HCNPpp) (Neuropolypeptide h3) (Raf kinase inhibitor protein) (RKIP) FLJ20296 2p11.2 hypothetical protein FLJ20296 FLJ21977 2p11.2 hypothetical protein FLJ21977 CAPG 2cen-q24 capping protein (actin filament), gelsolin-like LOC284948 2p11.2 similar to B-cell linker; B cell linker protein MAT2A 2p11.2 methionine adenosyltransferase II, alpha GGCX 2p12 gamma-glutamyl carboxylase VAMP8 2p11.2-p11.1 vesicle-associated membrane protein 8 (endobrevin) VAMP5 2p11.2 vesicle-associated membrane protein 5 (myobrevin) LOC51255 2p11.2 hypothetical protein LOC51255 FLJ90024 2p11.2 fasting-inducible integral membrane protein TM6P1 LOC388969 2 LOC388969 USP39 2p11.2 ubiquitin specific protease 39 SFTPB 2p12-p11.2 surfactant, pulmonary-associated protein B GNLY 2p12-q11 granulysin HATH6 SIAT9 2p11.2 sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) POLR1A 2p11.2 polymerase (RNA) 1 polypeptide A, 194kDa FLJ20758 2p11.2 FLJ20758 protein IMMT 2p11.2 inner membrane protein, mitochondrial (mitofilin) MRPL35 2p11.2 mitochondrial ribosomal protein L35 FLJ13110 2p11.2 hypothetical protein FLJ13110 JMJD1 2p11.2 jumonji domain containing 1 NEDF 2p24.3-p24.1 neuroendocrine differentiation factor
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3236 - 758 - Kinoshita (2007)
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
 mouthtongue  highly
Reproductivefemale systemplacenta  highly
 male systemprostate   
Respiratorylung    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
three transmembrane domains near its amino terminus
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
basic FUNCTION
  • gamma-glutamyl carboxylase, activating vitamin K-dependent proteins
  • plays an important role in blood coagulation through post-translational carboxylation of vitamin K-dependent blood-clotting proteins
  • involved in vitamin K-dependent carboxylation of multiple amino- terminal glutamate residues in various proteins
  • converting glutamate residues to gamma-carboxyglutamate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GGCXD
    Susceptibility
    Variant & Polymorphism
    Candidate gene for the investigation of inter-individual differences in the warfarin maintenance dose requirement
    Marker
    Therapy target should serve as a useful resource for further pharmacogenetic studies for various drugs in whose pharmacological pathway GGCX may be involved
    ANIMAL & CELL MODELS