GK - glycerol kinase Gene
Also Known as GK1; GKD
Species: Homo sapiens
About GK
This gene has 12 transcripts (splice variants), 309 orthologues, 6 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 27.5), small intestine (RPKM 25.1) and 18 other tissues.
Summary
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
GK Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000167.6 | NP_000158.1 | glycerol kinase isoform b |
| NM_001128127.3 | NP_001121599.1 | glycerol kinase isoform c |
| NM_001205019.2 | NP_001191948.1 | glycerol kinase isoform d |
| NM_001399987.1 | NP_001386916.1 | glycerol kinase isoform 5 |
| NM_203391.4 | NP_976325.1 | glycerol kinase isoform a |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables glycerol kinase activity |
IDA
IDA: Inferred from direct assay
|
15845384 | GOA |
| enables glycerol kinase activity |
IMP
IMP: Inferred from mutant phenotype
|
8651297 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21988832 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in glycerol metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
8499898 | GOA |
| involved in glycerol-3-phosphate biosynthetic process |
IDA
IDA: Inferred from direct assay
|
15845384 | GOA |
| involved in glycerol-3-phosphate biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
8651297 | GOA |
| involved in triglyceride metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
8651297 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
15845384 | GOA |
| is active in mitochondrion |
IDA
IDA: Inferred from direct assay
|
15845384 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15845384 | GOA |
GK Protein Structure
FGGY_N: FGGY family of carbohydrate kinases, N-terminal domain (1 - 67)
FGGY_C: FGGY family of carbohydrate kinases, C-terminal domain (76 - 267)
- 0
- 100
- 200
- 300
- 354 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
glycerol kinase |
|
GK Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P83154 | Glycerol Kinase Antibody (YA2899) | WB, FC, IP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Glycerol Kinase Deficiency |
|
|
| Adrenal Hypoplasia, Congenital |
|
|
| Ocular Albinism |
|
|
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
|
| Muscular Dystrophy, Becker Type |
|
|
| Aland Island Eye Disease |
|
|
| Chromosome Xp21 Deletion Syndrome |
|
|
| Hypoadrenocorticism, Familial |
|
|
| Eye Disease |
|
|
| Internal Hordeolum |
|
|
| Diabetes Mellitus |
|
|
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
|
| Muscular Dystrophy, Duchenne Type |
|
|
| Muscular Dystrophy |
|
|
| Deafness, Autosomal Recessive 8 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Myopathy |
|