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

Gene ID: 9453, updated on 8-Dec-2018

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
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; GGPPS1
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

Genomic context

See GGPS1 in Genome Data Viewer
Location:
1q42.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (235328438..235344532)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235491753..235507847)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 4B Neighboring gene microRNA 4753 Neighboring gene ribosomal protein L23a pseudogene 23 Neighboring gene atrophin 1 pseudogene Neighboring gene tubulin folding cofactor E Neighboring gene ribosomal protein S21 pseudogene 1

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
dimethylallyltranstransferase activity TAS
Traceable Author Statement
more info
 
farnesyltranstransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
geranyltranstransferase activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
farnesyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
geranyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
geranylgeranyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
isoprenoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

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

NCBI Reference Sequences (RefSeq)

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

    See identical proteins and their annotated locations for NP_001032354.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the functional protein.
    Source sequence(s)
    AI088775, AK025139, AL391994, BI520491
    Consensus CDS
    CCDS1604.1
    UniProtKB/Swiss-Prot
    O95749
    UniProtKB/TrEMBL
    A0A024R3W4
    Related
    ENSP00000351852.2, ENST00000358966.6
    Conserved Domains (1) summary
    pfam00348
    Location:9250
    polyprenyl_synt; Polyprenyl synthetase

RNA

  1. NR_036605.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI088775, AK293278, AL391994, DB473584

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    235328438..235344532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037278.1: Suppressed sequence

    Description
    NM_001037278.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_004837.3: Suppressed sequence

    Description
    NM_004837.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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