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GK glycerol kinase [ Homo sapiens (human) ]

Gene ID: 2710, updated on 14-Nov-2024

Summary

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Official Symbol
GKprovided by HGNC
Official Full Name
glycerol kinaseprovided by HGNC
Primary source
HGNC:HGNC:4289
See related
Ensembl:ENSG00000198814 MIM:300474; AllianceGenome:HGNC:4289
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GK1; GKD
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]
Expression
Broad expression in kidney (RPKM 27.5), small intestine (RPKM 25.1) and 18 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
Xp21.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30653423..30731462)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (30247310..30325392)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30671540..30749579)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20725 Neighboring gene ferritin light chain pseudogene 2 Neighboring gene GK antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:30771431-30772154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:30813295-30813854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20726 Neighboring gene myoneurin pseudogene Neighboring gene TAB3 antisense RNA 1 Neighboring gene TGF-beta activated kinase 1 (MAP3K7) binding protein 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The diagnostic difficulties of complex glycerol kinase deficiency. Ramanjam V, et al. J Child Neurol, 2010 Oct. PMID 20110216
  2. Physical mapping distal to the DMD locus. Love DR, et al. Genomics, 1990 Sep. PMID 2081587
  3. 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. Pillers DA, et al. Am J Med Genet, 1990 May. PMID 2159212
  4. Binding and function of mitochondrial glycerol kinase in comparison with those of mitochondrial hexokinase. Kaneko M, et al. Arch Biochem Biophys, 1985 Feb 15. PMID 2982325
  5. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Guo W, et al. Nat Genet, 1993 Aug. PMID 8401584

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Glycerol kinase enzyme is a prognostic predictor in esophageal carcinoma and is associated with immune cell infiltration.
    Title: Glycerol kinase enzyme is a prognostic predictor in esophageal carcinoma and is associated with immune cell infiltration.
  2. Expression and characterisation of human glycerol kinase: the role of solubilising agents and molecular chaperones.
    Title: Expression and characterisation of human glycerol kinase: the role of solubilising agents and molecular chaperones.
  3. Glycerol kinase enhances hepatic lipid metabolism by repressing nuclear receptor subfamily 4 group A1 in the nucleus.
    Title: Glycerol kinase enhances hepatic lipid metabolism by repressing nuclear receptor subfamily 4 group A1 in the nucleus.
  4. Both patients were found to have Xp21.2 deletions involving all coding seqeunces of the glycerol kinase (GK) gene.
    Title: Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.
  5. 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.
    Title: The diagnostic difficulties of complex glycerol kinase deficiency.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
  7. Comparison of expression patterns, as well as enzymatic characteristics and subcellular localization of alternatively spliced glycerol kinase isoforms.
    Title: Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.
  8. 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
    Title: Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
  9. missense mutations and deletions in glycerol kinase is associated with persistent hypertriglyceridemia
    Title: Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
  10. Results suggest that influences on RNA processing and protein stability represent modifiers of the glycerol kinase deficiency phenotype.
    Title: Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Inborn glycerol kinase deficiency
MedGen: C0268418 OMIM: 307030 GeneReviews: NR0B1-Related Adrenal Hypoplasia Congenita
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-09-06)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables glycerol kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glycerol kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycerol kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables glycerol kinase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables glycerol kinase activity TAS
Traceable Author Statement
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in glycerol catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycerol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycerol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycerol-3-phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycerol-3-phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycerol-3-phosphate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in triglyceride biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in triglyceride metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
glycerol kinase
Names
ATP:glycerol 3-phosphotransferase
glycerokinase
NP_000158.1
NP_001121599.1
NP_001191948.1
NP_001386916.1
NP_976325.1
XP_006724546.1
XP_011543793.1
XP_011543794.1
XP_054182803.1
XP_054182804.1
XP_054182805.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008178.1 RefSeqGene

    Range
    5065..83104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_848

mRNA and Protein(s)

  1. NM_000167.6 → NP_000158.1  glycerol kinase isoform b

    See identical proteins and their annotated locations for NP_000158.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (b) missing a 6 aa protein segment compared to isoform a.
    Source sequence(s)
    AA689298, AC112496, AK294938, AK313215, AW300142, BC042421
    Consensus CDS
    CCDS35224.1
    UniProtKB/TrEMBL
    A8K8B7
    Related
    ENSP00000368228.3, ENST00000378945.7
    Conserved Domains (1) summary
    cd07792
    Location:11 → 513
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

  2. NM_001128127.3 → NP_001121599.1  glycerol kinase isoform c

    See identical proteins and their annotated locations for NP_001121599.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon in the mid-region, and contains an additional in-frame coding exon at the 3' end compared to variant 1. This results in a longer isoform (c) compared to isoform a.
    Source sequence(s)
    AA689298, AC112496, AK294938, AK313215, AW300142, BC042421
    Consensus CDS
    CCDS48090.1
    UniProtKB/TrEMBL
    A8K8B7
    Related
    ENSP00000368226.3, ENST00000378943.7
    Conserved Domains (1) summary
    cd07792
    Location:11 → 513
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

  3. NM_001205019.2 → NP_001191948.1  glycerol kinase isoform d

    See identical proteins and their annotated locations for NP_001191948.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an additional in-frame coding exon at the 3' end compared to variant 1. This results in a longer isoform (d) with a protein segment not found in isoform a. The exon combination used for this variant is inferred, however, there is cross-species evidence for the existence of such a variant in mouse (AK044308:BAC31861) and cow (BC122692.1:AAI22693.1).
    Source sequence(s)
    AA689298, AC112496, AK294938, AK313215, AW300142, BC042421
    Consensus CDS
    CCDS75963.1
    UniProtKB/Swiss-Prot
    A6NJP5, B2R833, P32189, Q6IQ27, Q8IVR5, Q9UMP0, Q9UMP1
    UniProtKB/TrEMBL
    A8K8B7
    Related
    ENSP00000401720.2, ENST00000427190.6
    Conserved Domains (1) summary
    cd07792
    Location:11 → 519
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

  4. NM_001399987.1 → NP_001386916.1  glycerol kinase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  5. NM_203391.4 → NP_976325.1  glycerol kinase isoform a

    See identical proteins and their annotated locations for NP_976325.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AA689298, AC112496, AK294938, AK313215, AW300142, BC042421
    Consensus CDS
    CCDS14225.1
    UniProtKB/TrEMBL
    A8K8B7
    Related
    ENSP00000368229.3, ENST00000378946.7
    Conserved Domains (1) summary
    cd07792
    Location:11 → 519
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

RNA

  1. NR_174369.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  2. NR_174370.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  3. NR_174371.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  4. NR_174372.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  5. NR_174373.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  6. NR_174374.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

  7. NR_174375.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005913, AC112496, AC117404

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    30653423..30731462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545491.3 → XP_011543793.1  glycerol kinase isoform X1

    See identical proteins and their annotated locations for XP_011543793.1

    UniProtKB/TrEMBL
    A8K8B7
    Conserved Domains (1) summary
    cd07792
    Location:11 → 547
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

  2. XM_011545492.2 → XP_011543794.1  glycerol kinase isoform X3

    See identical proteins and their annotated locations for XP_011543794.1

    UniProtKB/TrEMBL
    A8K8B7
    Conserved Domains (1) summary
    cd07792
    Location:11 → 547
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

  3. XM_006724483.3 → XP_006724546.1  glycerol kinase isoform X2

    See identical proteins and their annotated locations for XP_006724546.1

    UniProtKB/TrEMBL
    A0A8I5KXY7, A8K8B7
    Related
    ENSP00000509378.1, ENST00000692461.1
    Conserved Domains (1) summary
    cd07792
    Location:11 → 541
    FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    30247310..30325392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326828.1 → XP_054182803.1  glycerol kinase isoform X1

  2. XM_054326830.1 → XP_054182805.1  glycerol kinase isoform X3

  3. XM_054326829.1 → XP_054182804.1  glycerol kinase isoform X2

    UniProtKB/TrEMBL
    A0A8I5KXY7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P32189.3 GenPept UniProtKB/Swiss-Prot:P32189

Gene LinkOut

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