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    GK glycerol kinase [ Homo sapiens (human) ]

    Gene ID: 2710, updated on 14-Apr-2016
    Official Symbol
    GKprovided by HGNC
    Official Full Name
    glycerol kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:4289
    See related
    Ensembl:ENSG00000198814 HPRD:08363; MIM:300474; Vega:OTTHUMG00000021328
    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]
    Orthologs
    Location:
    Xp21.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (30653359..30731462)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30671476..30749579)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 6 Neighboring gene ferritin, light polypeptide pseudogene 2 Neighboring gene myoneurin pseudogene Neighboring gene TGF-beta activated kinase 1/MAP3K7 binding protein 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deficiency of glycerol kinase
    MedGen: C0268418 OMIM: 307030 GeneReviews: Not available
    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    glycerol kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycerol kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    glycerol kinase activity TAS
    Traceable Author Statement
    more info
     
    histone binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    glycerol catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycerol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycerol-3-phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride biosynthetic process TAS
    Traceable Author Statement
    more info
     
    triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    glycerol kinase
    Names
    ATP:glycerol 3-phosphotransferase
    glycerokinase
    NP_000158.1
    NP_001121599.1
    NP_001191948.1
    NP_976325.1

    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
      5001..83104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000167.5NP_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/Swiss-Prot
      P32189
      UniProtKB/TrEMBL
      B4DH54
      Related
      ENSP00000368228, OTTHUMP00000215321, ENST00000378945, OTTHUMT00000355358
      Conserved Domains (2) summary
      cd07792
      Location:11513
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11513
      glycerol_kin; glycerol kinase
    2. NM_001128127.2NP_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/Swiss-Prot
      P32189
      UniProtKB/TrEMBL
      B4DH54
      Related
      ENSP00000368226, OTTHUMP00000023109, ENST00000378943, OTTHUMT00000056170
      Conserved Domains (2) summary
      cd07792
      Location:11513
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11513
      glycerol_kin; glycerol kinase
    3. NM_001205019.1NP_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
      P32189
      UniProtKB/TrEMBL
      B4DH54
      Related
      ENSP00000401720, ENST00000427190
      Conserved Domains (2) summary
      cd07792
      Location:11519
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11519
      glycerol_kin; glycerol kinase
    4. NM_203391.3NP_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/Swiss-Prot
      P32189
      UniProtKB/TrEMBL
      B4DH54
      Related
      ENSP00000368229, OTTHUMP00000023108, ENST00000378946, OTTHUMT00000056169
      Conserved Domains (2) summary
      cd07792
      Location:11519
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11519
      glycerol_kin; glycerol kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      30653359..30731462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545491.1XP_011543793.1  

      See identical proteins and their annotated locations for XP_011543793.1

      Conserved Domains (2) summary
      cd07792
      Location:11547
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11547
      glycerol_kin; glycerol kinase
    2. XM_011545492.1XP_011543794.1  

      See identical proteins and their annotated locations for XP_011543794.1

      Conserved Domains (2) summary
      cd07792
      Location:11547
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11547
      glycerol_kin; glycerol kinase
    3. XM_006724483.2XP_006724546.1  

      See identical proteins and their annotated locations for XP_006724546.1

      Conserved Domains (2) summary
      cd07792
      Location:11541
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11541
      glycerol_kin; glycerol kinase
    4. XM_006724484.2XP_006724547.1  

      Conserved Domains (2) summary
      cd07792
      Location:11541
      FGGY_GK1-3_metazoa; Metazoan glycerol kinase 1 and 3-like proteins; belongs to the FGGY family of carbohydrate kinases
      TIGR01311
      Location:11541
      glycerol_kin; glycerol kinase
    5. XM_006724485.2XP_006724548.1  

      See identical proteins and their annotated locations for XP_006724548.1

      Conserved Domains (1) summary
      cl17037
      Location:1314
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    6. XM_006724486.2XP_006724549.1  

      See identical proteins and their annotated locations for XP_006724549.1

      Conserved Domains (1) summary
      cl17037
      Location:1314
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    7. XM_005274488.3XP_005274545.1  

      Conserved Domains (1) summary
      cl17037
      Location:1308
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    8. XM_011545494.1XP_011543796.1  

      See identical proteins and their annotated locations for XP_011543796.1

      Conserved Domains (1) summary
      cl17037
      Location:1314
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    9. XM_011545493.1XP_011543795.1  

      See identical proteins and their annotated locations for XP_011543795.1

      Conserved Domains (1) summary
      cl17037
      Location:1314
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      30702368..30780409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)