GK
Glycerol kinase
Also known as: GK1, GKD, GLPK_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P32189
- Gene
- GK
- Ensembl
- ENSG00000198814
- Chromosome
- X
- Canonical length
- 559 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
559 residues, UniProt reviewed canonical sequence.
>P32189|GK
1 MAASKKAVLG PLVGAVDQGT SSTRFLVFNS KTAELLSHHQ VEIKQEFPRE GWVEQDPKEI
61 LHSVYECIEK TCEKLGQLNI DISNIKAIGV SNQRETTVVW DKITGEPLYN AVVWLDLRTQ
121 STVESLSKRI PGNNNFVKSK TGLPLSTYFS AVKLRWLLDN VRKVQKAVEE KRALFGTIDS
181 WLIWSLTGGV NGGVHCTDVT NASRTMLFNI HSLEWDKQLC EFFGIPMEIL PNVRSSSEIY
241 GLMKISHSVK AGALEGVPIS GCLGDQSAAL VGQMCFQIGQ AKNTYGTGCF LLCNTGHKCV
301 FSDHGLLTTV AYKLGRDKPV YYALEGSVAI AGAVIRWLRD NLGIIKTSEE IEKLAKEVGT
361 SYGCYFVPAF SGLYAPYWEP SARGIICGLT QFTNKCHIAF AALEAVCFQT REILDAMNRD
421 CGIPLSHLQV DGGMTSNKIL MQLQADILYI PVVKPSMPET TALGAAMAAG AAEGVGVWSL
481 EPEDLSAVTM ERFEPQINAE ESEIRYSTWK KAVMKSMGWV TTQSPESGDP SIFCSLPLGF
541 FIVSSMVMLI GARYISGIPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 98 nTPM
Expression across tissuesHPA
Tissue
- kidney: 98 nTPM
- small intestine: 82 nTPM
- duodenum: 80 nTPM
- liver: 67 nTPM
- appendix: 46 nTPM
- urinary bladder: 27 nTPM
Single-cell type
- neutrophils: 3,827 nCPM
- monocytes: 816 nCPM
- enterocytes: 570 nCPM
- cdc: 265 nCPM
- macrophages: 246 nCPM
- urothelial cells: 167 nCPM
Immune cell
- neutrophil: 160 nTPM
- classical monocyte: 20 nTPM
- myeloid DC: 14 nTPM
- T-reg: 12 nTPM
- non-classical monocyte: 8.8 nTPM
- eosinophil: 7.2 nTPM
Brain region
- cerebral cortex: 40 nTPM
- thalamus: 31 nTPM
- choroid plexus: 23 nTPM
- white matter: 20 nTPM
- pons: 19 nTPM
- medulla oblongata: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GK.
Disease | AllUniProt
Conditions GK is implicated in, by any mechanism.
- Glycerol kinase deficiency (GKD) MIM:307030
Disease | GeneticClinVar
25 pathogenic / likely-pathogenic of 239 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inborn glycerol kinase deficiency
- Nonpapillary renal cell carcinoma
- Inborn genetic diseases
- Thyroid cancer, nonmedullary, 1
- GK-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 3.19
- DepMap mean gene effect
- 0.19
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- glycerol catabolic process
- glycerol metabolic process
- glycerol-3-phosphate biosynthetic process
- triglyceride biosynthetic process
- triglyceride metabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Carbohydrate kinase, FGGY
- Glycerol kinase
- Carbohydrate kinase, FGGY, conserved site
- Carbohydrate kinase FGGY, N-terminal
- Carbohydrate kinase FGGY, C-terminal
- Glycerol kinase, metazoan-type
- ATPase, nucleotide binding domain
- FGGY family of carbohydrate kinases, N-terminal domain
- FGGY family of carbohydrate kinases, C-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GK as an antibody target. Whether an autoantibody or antibody against GK could matter depends on whether native GK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GK is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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