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GK glycerol kinase [ Homo sapiens (human) ]

Gene ID: 2710, updated on 27-Nov-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
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Genomic context

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

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 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

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_000167.6NP_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
  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_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_011545491.3XP_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

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

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

    UniProtKB/TrEMBL
    A0A8I5KXY7