GGPS1

Geranylgeranyl pyrophosphate synthase is an enzyme that in humans is encoded by the GGPS1 gene.^[5][6][7]

GGPS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2Q80
Identifiers
Aliases	GGPS1, GGPPS, GGPPS1, geranylgeranyl diphosphate synthase 1, MDHLO, MUDHLOV
External IDs	OMIM: 606982; MGI: 1341724; HomoloGene: 31267; GeneCards: GGPS1; OMA:GGPS1 - orthologs
EC number	2.5.1.1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.3 Start 235,327,350 bp[1] End 235,344,532 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A1|13 5.29 cM Start 14,225,244 bp[2] End 14,238,073 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm ganglionic eminence islet of Langerhans skin of thigh glutes optic nerve epithelium of colon gingival epithelium left testis right testis Top expressed in Rostral migratory stream pineal gland genital tubercle tail of embryo medial ganglionic eminence ventricular zone lateral geniculate nucleus dentate gyrus of hippocampal formation granule cell epithelium of lens seminal vesicula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity farnesyltranstransferase activity protein binding metal ion binding dimethylallyltranstransferase activity geranyltranstransferase activity identical protein binding Cellular component cytoplasm cytosol Biological process cholesterol biosynthetic process farnesyl diphosphate biosynthetic process geranyl diphosphate biosynthetic process geranylgeranyl diphosphate biosynthetic process isoprenoid biosynthetic process isoprenoid metabolic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9453 14593 Ensembl ENSG00000152904 ENSMUSG00000021302 UniProt O95749 Q9WTN0 RefSeq (mRNA) NM_001037277 NM_001037278 NM_004837 NM_001371477 NM_001371478 NM_010282 NM_001331119 NM_001331176 NM_001331177 NM_001331178 NM_001331180 RefSeq (protein) NP_001032354 NP_001032355 NP_001358406 NP_001358407 NP_004828 NP_001032354.1 NP_001318048 NP_001318105 NP_001318106 NP_001318107 NP_001318109 NP_034412 Location (UCSC) Chr 1: 235.33 – 235.34 Mb Chr 13: 14.23 – 14.24 Mb PubMed search [3] [4]
Wikidata
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Function

This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.^[7]

Much like its homolog farnesyl diphosphate synthase, GGPS1 is inhibited by bisphosphonate compounds.^[8]

Clinical

Mutations in both copies of this gene have been associated with a syndrome of muscular dystrophy, hearing loss and ovarian insufficiency.^[9]