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

    Gene ID: 9453, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GGPS1 in Genome Data Viewer
    Location:
    1q42.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235327216..235344532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234718929..234736246)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: TBCE

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dimethylallyltranstransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables farnesyltranstransferase activity IBA
    Inferred from Biological aspect of Ancestor
    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 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

    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)

    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_001037277.1NP_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:9251
      polyprenyl_synt; Polyprenyl synthetase
    2. NM_001037278.2NP_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:1197
      polyprenyl_synt; Polyprenyl synthetase
    3. NM_001371477.1NP_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:9251
      polyprenyl_synt; Polyprenyl synthetase
    4. NM_001371478.1NP_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:9251
      polyprenyl_synt; Polyprenyl synthetase
    5. NM_004837.4NP_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:9251
      polyprenyl_synt; Polyprenyl synthetase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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.