GK
entrez
2710
canonical
uniprot
P32189
canonical
ensembl
ENSG00000198814
resolver
ensp
ENSP00000368226
resolver
ensp
ENSP00000368228
resolver
ensp
ENSP00000368229
resolver
ensp
ENSP00000401720
resolver
ensp
ENSP00000509378
resolver
ensp
ENSP00000566942
resolver
ensp
ENSP00000566943
resolver
ensp
ENSP00000566952
resolver
enst
ENST00000692461
resolver
genesymbol
GK
resolver
hgnc
HGNC:4289
resolver
uniprot
A0A8I5KXY7
resolver
uniprot
A6NJP5
resolver
uniprot
B2R833
resolver
uniprot
B4DH54
resolver
uniprot
Q6IQ27
resolver
uniprot
Q8IVR5
resolver
uniprot
Q9UMP0
resolver
uniprot
Q9UMP1
resolver
uniprot_entry
A0A8I5KXY7_HUMAN
resolver
uniprot_entry
B4DH54_HUMAN
resolver
uniprot_entry
GLPK_HUMAN
resolver
uniprot_sec
A6NJP5
resolver
uniprot_sec
B2R833
resolver
uniprot_sec
Q6IQ27
resolver
uniprot_sec
Q8IVR5
resolver
uniprot_sec
Q9UMP0
resolver
uniprot_sec
Q9UMP1
resolver
activity_regulation
ACTIVITY REGULATION: Potassium and magnesium-dependent. {ECO:0000269|PubMed:37021775}.
uniprot
proteins
amino_acid_sequence
MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEILHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIYGLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRDCGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGFFIVSSMVMLIGARYISGIP
uniprot
proteins
disease_involvement
DISEASE: Glycerol kinase deficiency (GKD) [MIM:307030]: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. {ECO:0000269|PubMed:10736265, ECO:0000269|PubMed:8651297, ECO:0000269|PubMed:9719371}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.30
uniprot
proteins
function
FUNCTION: Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn-glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and triglycerides, glycogenesis, glycolysis and gluconeogenesis. {ECO:0000269|PubMed:15845384, ECO:0000269|PubMed:37021775}.
uniprot
proteins
mass_dalton
61245
uniprot
proteins
pathway_participation
PATHWAY: Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1. {ECO:0000305|PubMed:15845384, ECO:0000305|PubMed:37021775}.
uniprot
proteins
protein_family
FGGY kinase family
uniprot
proteins
pubmed
10736265
uniprot
proteins
pubmed
10851254
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15845384
uniprot
proteins
pubmed
37021775
uniprot
proteins
pubmed
7987308
uniprot
proteins
pubmed
8401584
uniprot
proteins
pubmed
8499898
uniprot
proteins
pubmed
8499912
uniprot
proteins
pubmed
8651297
uniprot
proteins
pubmed
9719371
uniprot
proteins
sequence_length
559
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000305|PubMed:15845384}; Single-pass membrane protein {ECO:0000255}. Nucleus {ECO:0000269|PubMed:15845384}. Cytoplasm, cytosol {ECO:0000305|PubMed:15845384}. Note=Glycerol kinase activity is more cytosolic in some tissues. It probably represents the expression of isoforms lacking a transmembrane domain. {ECO:0000305|PubMed:15845384}.; SUBCELLULAR LOCATION: [Isoform 3]: Mitochondrion outer membrane {ECO:0000305|PubMed:15845384}; Single-pass membrane protein {ECO:0000255}. Nucleus {ECO:0000269|PubMed:15845384}. Note=In sperm and fetal tissues, the majority of the activity is associated with mitochondria. {ECO:0000305|PubMed:15845384}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm, cytosol {ECO:0000305|PubMed:15845384}. Note=In adult tissues, such as liver the glycerol kinase activity is more cytosolic. It probably represents the expression of this isoform which lacks a transmembrane domain. {ECO:0000305|PubMed:15845384}.
uniprot
proteins
transmembrane_region
TRANSMEM 532..552; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins