GGPS1
entrez
9453
canonical
uniprot
O95749
canonical
ensembl
ENSG00000152904
resolver
ensp
ENSP00000282841
resolver
ensp
ENSP00000351852
resolver
ensp
ENSP00000375728
resolver
ensp
ENSP00000418690
resolver
ensp
ENSP00000525502
resolver
genesymbol
GGPS1
resolver
hgnc
HGNC:4249
resolver
uniprot
A8MVQ8
resolver
uniprot
Q5T2C8
resolver
uniprot
Q6NW19
resolver
uniprot_entry
GGPPS_HUMAN
resolver
uniprot_sec
A8MVQ8
resolver
uniprot_sec
Q5T2C8
resolver
uniprot_sec
Q6NW19
resolver
activity_regulation
ACTIVITY REGULATION: Subject to product inhibition by geranylgeranyl diphosphate. {ECO:0000269|PubMed:16698791}.
uniprot
proteins
amino_acid_sequence
MEKTQETVQRILLEPYKYLLQLPGKQVRTKLSQAFNHWLKVPEDKLQIIIEVTEMLHNASLLIDDIEDNSKLRRGFPVAHSIYGIPSVINSANYVYFLGLEKVLTLDHPDAVKLFTRQLLELHQGQGLDIYWRDNYTCPTEEEYKAMVLQKTGGLFGLAVGLMQLFSDYKEDLKPLLNTLGLFFQIRDDYANLHSKEYSENKSFCEDLTEGKFSFPTIHAIWSRPESTQVQNILRQRTENIDIKKYCVHYLEDVGSFEYTRNTLKELEAKAYKQIDARGGNPELVALVKHLSKMFKEENE
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) [MIM:619518]: An autosomal recessive disorder characterized by early-onset progressive muscle weakness, sensorineural hearing loss, and primary amenorrhea due to ovarian insufficiency. Some patients become wheelchair-bound by the second decade, whereas others have a milder phenotype and maintain independent ambulation into adulthood. Most patients have respiratory insufficiency. {ECO:0000269|PubMed:32403198}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.-
uniprot
proteins
ec_number
2.5.1.1
uniprot
proteins
ec_number
2.5.1.10
uniprot
proteins
ec_number
2.5.1.29
uniprot
proteins
function
FUNCTION: Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins. {ECO:0000269|PubMed:32403198}.
uniprot
proteins
mass_dalton
34871
uniprot
proteins
pathway_participation
PATHWAY: Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.; PATHWAY: Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.; PATHWAY: Isoprenoid biosynthesis; geranylgeranyl diphosphate biosynthesis; geranylgeranyl diphosphate from farnesyl diphosphate and isopentenyl diphosphate: step 1/1.
uniprot
proteins
protein_family
FPP/GGPP synthase family
uniprot
proteins
pubmed
10026212
uniprot
proteins
pubmed
10101267
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16698791
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
32403198
uniprot
proteins
pubmed
9741684
uniprot
proteins
sequence_length
300
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:32403198}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:32403198}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:32403198}.
uniprot
proteins