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FLASH GENE
Symbol HMGCR contributors: mct/ - updated : 02-01-2006
HGNC name 3-hydroxy-3-methylglutaryl-Coenzyme A reductase
HGNC id 5006
Location 5q13.3      Physical location : 74.632.992 - 74.657.924
Synonym name
  • HMG CoA reductase
  • 3-hydroxy-3-methylglutaryl CoA reductase (NADPH)
    • Synonym symbol(s) EVI19, LDLCQ3
    EC.number 1.1.1.88, 1.1.1.34
    DNA
    TYPE functioning gene
    STRUCTURE 24.93 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC389301 5 similar to nonhistone chromosomal protein HMG-17 - rat LOC389302 5 LOC389302 FOXD1 5q12-q13 forkhead box D1 BTF3 5p13.2 basic transcription factor 3 LOC220793 5q13.3 similar to hepatitis C virus core-binding protein 6; cervical cancer oncogene 3 ANKRA2 5q12-q13 ankyrin repeat, family A (RFXANK-like), 2 FLJ12787 5q13.3 hypothetical protein FLJ12787 PRO1942 5q13.3 hypothetical protein PRO1942 RGNEF 5q13.3 Rho-guanine nucleotide exchange factor ENC1 5q12-q13.3 ectodermal-neural cortex (with BTB-like domain) HEXB 5q12 hexosaminidase B (beta polypeptide) EFG2 5q13 hexosaminidase B (beta polypeptide) TINP1 5q13.3 TGF beta-inducible nuclear protein 1 KIAA0888 5q13.3 KIAA0888 protein LOC260421 5q13 actin related protein 2/3 complex subunit 1A pseudogene LOC389303 5 hypothetical gene supported by BC039003 LOC391796 5 similar to hypothetical protein FLJ10891 C2GNT3 5q12 similar to hypothetical protein FLJ10891 FLJ40191 5q13.3 hypothetical protein FLJ40191 HMGCR 5q13.3-q14 3-hydroxy-3-methylglutaryl-Coenzyme A reductase COL4A3BP 5q13.1 collagen, type IV, alpha 3 (Goodpasture antigen) binding protein POLK 5q13 polymerase (DNA directed) kappa LOC391797 5 similar to hypothetical protein LOC348094 FLJ35779 5q13.3 hypothetical protein FLJ35779 LOC389304 5 hypothetical gene supported by AK125735 LOC391798 5 similar to importin alpha 1b LOC134356 5q13.3 similar to breast cancer associated protein BRAP1; bridging integrator-2 LOC134357 5q13.3 similar to mitochondrial aconitase LOC391799 5 similar to spermine synthase; spermidine aminopropyltransferase SV2C 5q13.3-q14.1 similar to spermine synthase; spermidine aminopropyltransferase LOC391800 5 similar to U1 snRNP-specific protein C IQGAP2 5q13.3 IQ motif containing GTPase activating protein 2 F2RL2 5q13 coagulation factor II (thrombin) receptor-like 2 F2R 5q13 coagulation factor II (thrombin) receptor F2RL1 5q13 coagulation factor II (thrombin) receptor-like 1 S100Z 5q14.1 S100Z protein CRHBP 5q11.2-q13.3 corticotropin releasing hormone binding protein HSU84971 5q14.1 vasculogenesis gene on 5q ZBED3 5q13.2 zinc finger, BED domain containing 3 LOC285711 5q14.1 hypothetical LOC285711 PDE8B 5q13.2 phosphodiesterase 8B ATQL1 5q14 antiquitin-like 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 4589 - 888 - -
    19 - 4430 - 835 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivemale system   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic membrane-bound domain
  • a five spanning transmembrane sterol sensing domain (SSD), TM2-6
  • a flexible linker domain
  • a catalytic domain
    • HOMOLOGY
    intraspecies homolog to NPC1L1
    Homologene
    FAMILY
  • Patched family
  • HMG-CoA reductase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • catalyzing a rate-limiting step in cholesterol biosynthesis (conversion of HMG-CoA to mevalonate)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by maybe degradated by the p97 subunit of 265 proteasome (see PSMD2)
    Other regulated by phosphorylation/dephosphorylation and by a negative feedback mechanism mediated by sterols (cholesterol) and non sterol metabolites derived from mevalonate
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS