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GK glycerol kinase [ Homo sapiens (human) ]

Gene ID: 2710, updated on 20-Dec-2019

Summary

Official Symbol
GKprovided by HGNC
Official Full Name
glycerol kinaseprovided by HGNC
Primary source
HGNC:HGNC:4289
See related
Ensembl:ENSG00000198814 MIM:300474
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

Genomic context

Location:
Xp21.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (30653348..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 chain pseudogene 2 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
Deficiency of glycerol kinase 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

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
glycerol kinase
Names
ATP:glycerol 3-phosphotransferase
glycerokinase
NP_000158.1
NP_001121599.1
NP_001191948.1
NP_976325.1
XP_005274545.1
XP_006724546.1
XP_006724547.1
XP_006724548.1
XP_006724549.1
XP_011543793.1
XP_011543794.1
XP_011543795.1
XP_011543796.1
XP_016884898.1
XP_016884899.1
XP_016884900.1
XP_016884901.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000368228.3, 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_001128127.2NP_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
    ENSP00000368226.3, 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_001205019.1NP_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
    ENSP00000401720.2, ENST00000427190.5
    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_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
    ENSP00000368229.3, 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    30653348..30731462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724486.3XP_006724549.1  glycerol kinase isoform X5

    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
  2. XM_017029410.1XP_016884899.1  glycerol kinase isoform X7

  3. XM_011545491.2XP_011543793.1  glycerol kinase isoform X1

    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
  4. XM_017029411.1XP_016884900.1  glycerol kinase isoform X8

  5. XM_011545492.1XP_011543794.1  glycerol kinase isoform X3

    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
  6. XM_006724483.2XP_006724546.1  glycerol kinase isoform X2

    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
  7. XM_006724484.2XP_006724547.1  glycerol kinase isoform X4

    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
  8. XM_006724485.2XP_006724548.1  glycerol kinase isoform X5

    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
  9. XM_005274488.4XP_005274545.1  glycerol kinase isoform X6

    Conserved Domains (1) summary
    cl17037
    Location:1308
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  10. XM_017029412.2XP_016884901.1  glycerol kinase isoform X8

  11. XM_017029409.1XP_016884898.1  glycerol kinase isoform X5

    Conserved Domains (1) summary
    cl17037
    Location:1314
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  12. XM_011545494.2XP_011543796.1  glycerol kinase isoform X5

    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
  13. XM_011545493.2XP_011543795.1  glycerol kinase isoform X5

    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
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