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

Gene ID: 9453, updated on 26-Oct-2022

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
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Genomic context

See GGPS1 in Genome Data Viewer
Location:
1q42.3
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235327216..235344532)
110 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 Sharpr-MPRA regulatory region 13312 Neighboring gene ribosomal protein L23a pseudogene 23 Neighboring gene atrophin 1 pseudogene Neighboring gene uncharacterized LOC124904559

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

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
PubMed 
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
PubMed 
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)

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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_001037277.1NP_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
    O95749, Q6NW19
    UniProtKB/TrEMBL
    A0A024R3R2, A0A024R3W4
    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
    Q6NW19
    UniProtKB/TrEMBL
    A0A024R3R2
    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
    Q6NW19
    UniProtKB/TrEMBL
    A0A024R3R2
    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
    Q6NW19
    UniProtKB/TrEMBL
    A0A024R3R2
    Related
    ENSP00000282841.5, ENST00000282841.9
    Conserved Domains (1) summary
    pfam00348
    Location:9251
    polyprenyl_synt; Polyprenyl synthetase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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.