U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    GGPS1 geranylgeranyl diphosphate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 9453, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    GGPS1provided by HGNC
    Official Full Name
    geranylgeranyl diphosphate synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:4249
    See related
    Ensembl:ENSG00000152904 MIM:606982; AllianceGenome:HGNC:4249
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGPPS; MDHLO; GGPPS1; MUDHLOV
    Summary
    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, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in testis (RPKM 14.2), prostate (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    1q42.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235327216..235344532)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234718929..234736246)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235490531..235507847)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 4B Neighboring gene microRNA 4753 Neighboring gene Sharpr-MPRA regulatory region 13312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235434772-235435360 Neighboring gene ribosomal protein L23a pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2797 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235490383-235490908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2800 Neighboring gene atrophin 1 pseudogene Neighboring gene uncharacterized LOC124904559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235530449-235531162

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target. Muehlebach ME, et al. Clin Transl Med, 2023 Jan. PMID 36650113, Free PMC Article
    2. GGPS1-associated muscular dystrophy with and without hearing loss. Kaiyrzhanov R, et al. Ann Clin Transl Neurol, 2022 Sep. PMID 35869884, Free PMC Article
    3. Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury. Wang Z, et al. Hum Cell, 2022 May. PMID 35334098, Free PMC Article
    4. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Foley AR, et al. Ann Neurol, 2020 Aug. PMID 32403198, Free PMC Article
    5. Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types. Roca-Ayats N, et al. J Bone Miner Res, 2018 Dec. PMID 30184270

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target.
      Title: Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target.
    2. GGPS1-associated muscular dystrophy with and without hearing loss.
      Title: GGPS1-associated muscular dystrophy with and without hearing loss.
    3. Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury.
      Title: Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury.
    4. The Genetics of Atypical Femur Fractures-a Systematic Review.
      Title: The Genetics of Atypical Femur Fractures-a Systematic Review.
    5. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
      Title: GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
    6. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
      Title: Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
    7. Overexpression of GGPPS correlates with poor prognosis of lung adenocarcinoma and contributes to metastasis through regulating epithelial-mesenchymal transition.
      Title: Overexpression of geranylgeranyl diphosphate synthase contributes to tumour metastasis and correlates with poor prognosis of lung adenocarcinoma.
    8. the impact of the mutated GGPPS and the relevance of the downstream effects in bone cells make it a strong candidate for Atypical femoral fractures susceptibility.
      Title: Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.
    9. results may support a model in which accumulation of susceptibility variants (including some in relevant genes, notably GGPS1) may lead to a possible genetic component of predisposition to atypical femoral fractures.
      Title: GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.
    10. GGPPS1 may play a critical role during the development of HCC from cirrhosis and is of clinical significance for predicting biological character of HCC.
      Title: GGPPS1 predicts the biological character of hepatocellular carcinoma in patients with cirrhosis.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
    MedGen: C5561980 OMIM: 619518 GeneReviews: Not available
    		not available

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Potential readthrough

    Included gene: TBCE

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dimethylallyltranstransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables farnesyltranstransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables farnesyltranstransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables geranyltranstransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables prenyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in farnesyl diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in geranyl diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in geranylgeranyl diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in isoprenoid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in isoprenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    geranylgeranyl pyrophosphate synthase
    Names
    (2E,6E)-farnesyl diphosphate synthase
    GGPP synthase
    GGPPSase
    dimethylallyltranstransferase
    farnesyl diphosphate synthase
    farnesyltranstransferase
    geranyltranstransferase
    NP_001032354.1
    NP_001032355.1
    NP_001358406.1
    NP_001358407.1
    NP_004828.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037277.1 → NP_001032354.1  geranylgeranyl pyrophosphate synthase isoform A

      See identical proteins and their annotated locations for NP_001032354.1

      Status: REVIEWED

      Source sequence(s)
      AI088775, AK025139, AL391994, BI520491
      Consensus CDS
      CCDS1604.1
      UniProtKB/Swiss-Prot
      A8MVQ8, O95749, Q5T2C8, Q6NW19
      UniProtKB/TrEMBL
      C9J7M1
      Related
      ENSP00000351852.2, ENST00000358966.6
      Conserved Domains (1) summary
      pfam00348
      Location:9 → 251
      polyprenyl_synt; Polyprenyl synthetase

    2. NM_001037278.2 → NP_001032355.1  geranylgeranyl pyrophosphate synthase isoform B

      Status: REVIEWED

      Source sequence(s)
      AK293278, AL391994
      Related
      ENSP00000375728.2, ENST00000391855.2
      Conserved Domains (1) summary
      pfam00348
      Location:1 → 197
      polyprenyl_synt; Polyprenyl synthetase

    3. NM_001371477.1 → NP_001358406.1  geranylgeranyl pyrophosphate synthase isoform A

      Status: REVIEWED

      Source sequence(s)
      AL391994, BC067768
      Consensus CDS
      CCDS1604.1
      UniProtKB/Swiss-Prot
      A8MVQ8, O95749, Q5T2C8, Q6NW19
      UniProtKB/TrEMBL
      C9J7M1
      Related
      ENSP00000418690.1, ENST00000488594.5
      Conserved Domains (1) summary
      pfam00348
      Location:9 → 251
      polyprenyl_synt; Polyprenyl synthetase

    4. NM_001371478.1 → NP_001358407.1  geranylgeranyl pyrophosphate synthase isoform A

      Status: REVIEWED

      Source sequence(s)
      AL391994
      Consensus CDS
      CCDS1604.1
      UniProtKB/Swiss-Prot
      A8MVQ8, O95749, Q5T2C8, Q6NW19
      UniProtKB/TrEMBL
      C9J7M1
      Conserved Domains (1) summary
      pfam00348
      Location:9 → 251
      polyprenyl_synt; Polyprenyl synthetase

    5. NM_004837.4 → NP_004828.1  geranylgeranyl pyrophosphate synthase isoform A

      Status: REVIEWED

      Source sequence(s)
      AF057698, AK025139, AL391994
      UniProtKB/Swiss-Prot
      A8MVQ8, O95749, Q5T2C8, Q6NW19
      UniProtKB/TrEMBL
      C9J7M1
      Related
      ENSP00000282841.5, ENST00000282841.9
      Conserved Domains (1) summary
      pfam00348
      Location:9 → 251
      polyprenyl_synt; Polyprenyl synthetase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      235327216..235344532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      234718929..234736246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_036605.2: Suppressed sequence

      Description
      NR_036605.2: This RefSeq was removed because it is now thought that this transcript does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95749.1 GenPept UniProtKB/Swiss-Prot:O95749

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous