Property Summary

NCBI Gene PubMed Count 25
PubMed Score 105.85
PubTator Score 81.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
Rheumatoid Arthritis 1.100 0.009
nephrosclerosis -1.297 0.004
tuberculosis and treatment for 6 months -3.000 0.000
intraductal papillary-mucinous neoplasm ... 1.800 0.000
lung cancer -3.400 0.000
psoriasis 1.900 0.000

Synonym

Accession P32189 A6NJP5 B2R833 Q6IQ27 Q8IVR5 Q9UMP0 Q9UMP1 GK
Symbols GK1
GKD

Gene

GK

Gene RIF (6)

PMID Text
20110216 Two siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency, are described. The elder sibling demonstrates the difficulties diagnosing this rare condition.
18660489 Observational study of gene-disease association. (HuGE Navigator)
16549535 Results suggest that influences on RNA processing and protein stability represent modifiers of the glycerol kinase deficiency phenotype.
15845384 Comparison of expression patterns, as well as enzymatic characteristics and subcellular localization of alternatively spliced glycerol kinase isoforms.
14654354 a functional HNF-4alpha binding site in the first 500 bp of the 5(') upstream region is important for increased levels of glycerol kinase expression
12636049 missense mutations and deletions in glycerol kinase is associated with persistent hypertriglyceridemia

AA Sequence

MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEILHSVYECIEK      1 - 70
TCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQSTVESLSKRIPGNNNFVKSK     71 - 140
TGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDSWLIWSLTGGVNGGVHCTDVTNASRTMLFNI    141 - 210
HSLEWDKQLCEFFGIPMEILPNVRSSSEIYGLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQ    211 - 280
AKNTYGTGCFLLCNTGHKCVFSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEE    281 - 350
IEKLAKEVGTSYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRD    351 - 420
CGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSLEPEDLSAVTM    421 - 490
ERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGFFIVSSMVMLIGARYISGIP     491 - 559
//

Text Mined References (27)

PMID Year Title
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
20110216 2010 The diagnostic difficulties of complex glycerol kinase deficiency.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
16549535 2006 Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
15845384 2005 Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14654354 2003 Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
12636049 2003 Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10851254 2000 Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
10737976 2000 AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
10736265 2000 Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
9719371 1998 Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
8944226 1996 Biosynthesis of triacylglycerols.
8884278 1996 Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene.
8651297 1996 Mutations and phenotype in isolated glycerol kinase deficiency.
8499912 1993 Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
8499898 1993 Isolation of the human Xp21 glycerol kinase gene by positional cloning.
8401584 1993 Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.
7987308 1994 The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.
2982325 1985 Binding and function of mitochondrial glycerol kinase in comparison with those of mitochondrial hexokinase.
2159212 1990 Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
2081587 1990 Physical mapping distal to the DMD locus.