InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GK

Summary

InnateDB Protein

IDBP-53832.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

glycerol kinase

Synonyms

GK1; GKD;

Species

Homo sapiens

Ensembl Protein

ENSP00000368228

InnateDB Gene

IDBG-53826 (GK)

Protein Structure

UniProt Annotation

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

Interactions

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004370	glycerol kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016773	phosphotransferase activity, alcohol group as acceptor

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006071	glycerol metabolic process
GO:0006072	glycerol-3-phosphate metabolic process
GO:0006641	triglyceride metabolic process
GO:0016310	phosphorylation
GO:0019432	triglyceride biosynthetic process
GO:0019563	glycerol catabolic process
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process
GO:0046167	glycerol-3-phosphate biosynthetic process