GGPS1

Protein identityUniProt · HPA

UniProt accession

O95749

Gene

GGPS1

Ensembl

ENSG00000152904

Chromosome

1

Canonical length

300 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homohexamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

300 residues, UniProt reviewed canonical sequence.

>O95749|GGPS1
     1  MEKTQETVQR ILLEPYKYLL QLPGKQVRTK LSQAFNHWLK VPEDKLQIII EVTEMLHNAS
    61  LLIDDIEDNS KLRRGFPVAH SIYGIPSVIN SANYVYFLGL EKVLTLDHPD AVKLFTRQLL
   121  ELHQGQGLDI YWRDNYTCPT EEEYKAMVLQ KTGGLFGLAV GLMQLFSDYK EDLKPLLNTL
   181  GLFFQIRDDY ANLHSKEYSE NKSFCEDLTE GKFSFPTIHA IWSRPESTQV QNILRQRTEN
   241  IDIKKYCVHY LEDVGSFEYT RNTLKELEAK AYKQIDARGG NPELVALVKH LSKMFKEENE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GGPS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GGPS1.

Disease | AllUniProt

Conditions GGPS1 is implicated in, by any mechanism.

• Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) MIM:619518

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 48 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
• Myopathy with tubular aggregates

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0.27

gnomAD missense Z

1.22

DepMap mean gene effect

-1.29

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• farnesyl diphosphate biosynthetic process
• geranyl diphosphate biosynthetic process
• isoprenoid biosynthetic process
• isoprenoid metabolic process
• geranylgeranyl diphosphate biosynthetic process

Molecular functions

• (2E,6E)-farnesyl diphosphate synthase activity
• dimethylallyltranstransferase activity
• geranylgeranyl diphosphate synthase activity
• identical protein binding
• metal ion binding

Cellular components

• cytoplasm
• cytosol
• nucleoplasm
• perinuclear region of cytoplasm
• Z disc

Protein domainsUniProt · Pfam · InterPro

• Polyprenyl synthetase-like
• Isoprenoid synthase domain superfamily
• Polyprenyl synthetase, conserved site
• Polyprenyl synthetase

KeywordsUniProt

• Acetylation
• Congenital muscular dystrophy
• Cytoplasm
• Deafness
• Isoprene biosynthesis
• Lipid metabolism
• Magnesium
• Metal-binding
• Transferase