GGPS1 (geranylgeranyl diphosphate synthase 1)

2021-06-01  

Identity

HGNC
LOCATION
1q42.3
LOCUSID
ALIAS
GGPPS,GGPPS1

Other Information

Locus ID:

NCBI: 9453
MIM: 606982
HGNC: 4249
Ensembl: ENSG00000152904

Variants:

dbSNP: 9453
ClinVar: 9453
TCGA: ENSG00000152904
COSMIC: GGPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152904ENST00000282841O95749
ENSG00000152904ENST00000282841A0A024R3W4
ENSG00000152904ENST00000358966O95749
ENSG00000152904ENST00000358966A0A024R3W4
ENSG00000152904ENST00000391855O95749
ENSG00000152904ENST00000471812C9J7M1
ENSG00000152904ENST00000488594O95749
ENSG00000152904ENST00000488594A0A024R3W4
ENSG00000152904ENST00000497327C9J6G3

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
366501132023Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target.4
366501132023Geranylgeranyl diphosphate synthase: Role in human health, disease and potential therapeutic target.4
353340982022Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury.1
358698842022GGPS1-associated muscular dystrophy with and without hearing loss.2
353340982022Knockout of GGPPS1 restrains rab37-mediated autophagy in response to ventilator-induced lung injury.1
358698842022GGPS1-associated muscular dystrophy with and without hearing loss.2
335872472021The Genetics of Atypical Femur Fractures-a Systematic Review.10
335872472021The Genetics of Atypical Femur Fractures-a Systematic Review.10
323995982020Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).17
324031982020GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.15
323995982020Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).17
324031982020GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.15
293775832018Overexpression of geranylgeranyl diphosphate synthase contributes to tumour metastasis and correlates with poor prognosis of lung adenocarcinoma.12
301842702018Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.11
293775832018Overexpression of geranylgeranyl diphosphate synthase contributes to tumour metastasis and correlates with poor prognosis of lung adenocarcinoma.12

Citation

Dessen P

GGPS1 (geranylgeranyl diphosphate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58195/ggps1-(geranylgeranyl-diphosphate-synthase-1)