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    GK glycerol kinase [ Homo sapiens (human) ]

    Gene ID: 2710, updated on 2-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
    		Compare labs

    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)

    Genotypes

    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 phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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