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    GK glycerol kinase [ Homo sapiens (human) ]

    Gene ID: 2710, updated on 25-Jan-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xp21.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (30653423..30731462)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (30247310..30325392)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Inborn glycerol kinase deficiency 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    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 TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_000167.6NP_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:11513
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
    2. NM_001128127.3NP_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:11513
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
    3. NM_001205019.2NP_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:11519
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
    4. NM_001399987.1NP_001386916.1  glycerol kinase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005913, AC112496, AC117404
      UniProtKB/TrEMBL
      A8K8B7
    5. NM_203391.4NP_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:11519
      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_2023_10

    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_011545491.3XP_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:11547
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
    2. XM_011545492.2XP_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:11547
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
    3. XM_006724483.3XP_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:11541
      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_054326828.1XP_054182803.1  glycerol kinase isoform X1

      UniProtKB/TrEMBL
      A8K8B7
    2. XM_054326830.1XP_054182805.1  glycerol kinase isoform X3

      UniProtKB/TrEMBL
      A8K8B7
    3. XM_054326829.1XP_054182804.1  glycerol kinase isoform X2

      UniProtKB/TrEMBL
      A0A8I5KXY7, A8K8B7