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

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

Summary

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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
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Genomic context

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See GGPS1 in Genome Data Viewer
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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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