InnateDB Protein
|
IDBP-53834.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
GK
|
Protein Name
|
glycerol kinase
|
Synonyms
|
GK1; GKD;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000368226
|
InnateDB Gene
|
IDBG-53826 (GK)
|
Protein Structure
|
|
Function |
Key enzyme in the regulation of glycerol uptake and metabolism.
|
Subcellular Localization |
Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.
|
Disease Associations |
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:0000269PubMed:10736265, ECO:0000269PubMed:8651297, ECO:0000269PubMed:9719371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
14
[view]
|
Protein-Protein |
14
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR005999
Glycerol kinase
IPR018484
Carbohydrate kinase, FGGY, N-terminal
IPR018485
Carbohydrate kinase, FGGY, C-terminal
|
PFAM |
PF00370
PF02782
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P32189
|
PhosphoSite |
PhosphoSite-P32189
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
2710
|
UniGene |
Hs.617561
|
RefSeq |
NP_001121599
|
HUGO |
HGNC:4289
|
OMIM |
300474
|
CCDS |
CCDS48090
|
HPRD |
08363
|
IMGT |
|
EMBL |
AC005913
AC112496
AC117404
AJ252550
AJ252551
AJ252552
AJ252553
AJ252554
AJ252555
AJ252556
AJ252557
AJ252558
AJ252559
AJ252560
AJ252561
AJ252562
AJ252563
AJ252564
AJ252565
AJ252566
AJ252567
AJ252568
AJ252569
AJ252570
AK313215
BC037549
BC042421
BC071595
L13943
X68285
X69886
X78211
|
GenPept |
AAA52576
AAH37549
AAH42421
AAH71595
BAG36030
CAA48346
CAA49512
CAB54857
CAB54858
CAB54859
|
|
|