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Protein

Glycerol kinase

Gene

GK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Key enzyme in the regulation of glycerol uptake and metabolism.

Catalytic activityi

ATP + glycerol = ADP + sn-glycerol 3-phosphate.

Pathwayi: glycerol degradation via glycerol kinase pathway

This protein is involved in step 1 of the subpathway that synthesizes sn-glycerol 3-phosphate from glycerol.
Proteins known to be involved in this subpathway in this organism are:
  1. Putative glycerol kinase 5 (GK5), Glycerol kinase (GK), Glycerol kinase 3 (GK3P), Glycerol kinase 2 (GK2)
This subpathway is part of the pathway glycerol degradation via glycerol kinase pathway, which is itself part of Polyol metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes sn-glycerol 3-phosphate from glycerol, the pathway glycerol degradation via glycerol kinase pathway and in Polyol metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei20SubstrateBy similarity1
Binding sitei24ATPBy similarity1
Binding sitei94SubstrateBy similarity1
Binding sitei148SubstrateBy similarity1
Binding sitei265SubstrateBy similarity1
Binding sitei287ATPBy similarity1
Binding sitei332ATP; via carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi433 – 437ATPBy similarity5

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • glycerol kinase activity Source: BHF-UCL

GO - Biological processi

  • glycerol-3-phosphate biosynthetic process Source: BHF-UCL
  • glycerol catabolic process Source: UniProtKB-UniPathway
  • glycerol metabolic process Source: BHF-UCL
  • triglyceride biosynthetic process Source: Reactome
  • triglyceride metabolic process Source: BHF-UCL

Keywordsi

Molecular functionKinase, Transferase
Biological processGlycerol metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.1.30 2681
ReactomeiR-HSA-75109 Triglyceride biosynthesis
SIGNORiP32189
UniPathwayiUPA00618; UER00672

Protein family/group databases

MoonDBiP32189 Curated

Names & Taxonomyi

Protein namesi
Recommended name:
Glycerol kinase (EC:2.7.1.30)
Short name:
GK
Short name:
Glycerokinase
Alternative name(s):
ATP:glycerol 3-phosphotransferase
Gene namesi
Name:GK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000198814.12
HGNCiHGNC:4289 GK
MIMi300474 gene
neXtProtiNX_P32189

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Involvement in diseasei

Glycerol kinase deficiency (GKD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.
See also OMIM:307030
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015433294N → D in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630331EnsemblClinVar.1
Natural variantiVAR_001377446D → V in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630328EnsemblClinVar.1
Natural variantiVAR_010138509W → R in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630330EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2710
MalaCardsiGK
MIMi307030 phenotype
OpenTargetsiENSG00000198814
Orphaneti284414 Glycerol kinase deficiency, adult form
284408 Glycerol kinase deficiency, infantile form
284411 Glycerol kinase deficiency, juvenile form
PharmGKBiPA28700

Chemistry databases

ChEMBLiCHEMBL2300

Polymorphism and mutation databases

BioMutaiGK
DMDMi205830913

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000595351 – 559Glycerol kinaseAdd BLAST559

Proteomic databases

EPDiP32189
PeptideAtlasiP32189
PRIDEiP32189
ProteomicsDBi54841
54842 [P32189-1]
54843 [P32189-2]

PTM databases

iPTMnetiP32189
PhosphoSitePlusiP32189

Expressioni

Tissue specificityi

Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.

Gene expression databases

BgeeiENSG00000198814
CleanExiHS_GK
ExpressionAtlasiP32189 baseline and differential
GenevisibleiP32189 HS

Organism-specific databases

HPAiHPA060687

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NR4A1P227363EBI-3926629,EBI-721550

Protein-protein interaction databases

BioGridi108975, 56 interactors
IntActiP32189, 14 interactors
MINTiP32189

Chemistry databases

BindingDBiP32189

Structurei

3D structure databases

ProteinModelPortaliP32189
SMRiP32189
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FGGY kinase family.Curated

Phylogenomic databases

eggNOGiKOG2517 Eukaryota
COG0554 LUCA
GeneTreeiENSGT00530000063143
HOGENOMiHOG000222134
HOVERGENiHBG002451
InParanoidiP32189
KOiK00864
OMAiWQDTRTQ
OrthoDBiEOG091G04EJ
PhylomeDBiP32189
TreeFamiTF321504

Family and domain databases

InterProiView protein in InterPro
IPR000577 Carb_kinase_FGGY
IPR018485 Carb_kinase_FGGY_C
IPR018483 Carb_kinase_FGGY_CS
IPR018484 Carb_kinase_FGGY_N
IPR005999 Glycerol_kin
PfamiView protein in Pfam
PF02782 FGGY_C, 1 hit
PF00370 FGGY_N, 1 hit
PIRSFiPIRSF000538 GlpK, 1 hit
TIGRFAMsiTIGR01311 glycerol_kin, 1 hit
PROSITEiView protein in PROSITE
PS00933 FGGY_KINASES_1, 1 hit
PS00445 FGGY_KINASES_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: P32189-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAASKKAVLG PLVGAVDQGT SSTRFLVFNS KTAELLSHHQ VEIKQEFPRE
60 70 80 90 100
GWVEQDPKEI LHSVYECIEK TCEKLGQLNI DISNIKAIGV SNQRETTVVW
110 120 130 140 150
DKITGEPLYN AVVWLDLRTQ STVESLSKRI PGNNNFVKSK TGLPLSTYFS
160 170 180 190 200
AVKLRWLLDN VRKVQKAVEE KRALFGTIDS WLIWSLTGGV NGGVHCTDVT
210 220 230 240 250
NASRTMLFNI HSLEWDKQLC EFFGIPMEIL PNVRSSSEIY GLMKISHSVK
260 270 280 290 300
AGALEGVPIS GCLGDQSAAL VGQMCFQIGQ AKNTYGTGCF LLCNTGHKCV
310 320 330 340 350
FSDHGLLTTV AYKLGRDKPV YYALEGSVAI AGAVIRWLRD NLGIIKTSEE
360 370 380 390 400
IEKLAKEVGT SYGCYFVPAF SGLYAPYWEP SARGIICGLT QFTNKCHIAF
410 420 430 440 450
AALEAVCFQT REILDAMNRD CGIPLSHLQV DGGMTSNKIL MQLQADILYI
460 470 480 490 500
PVVKPSMPET TALGAAMAAG AAEGVGVWSL EPEDLSAVTM ERFEPQINAE
510 520 530 540 550
ESEIRYSTWK KAVMKSMGWV TTQSPESGDP SIFCSLPLGF FIVSSMVMLI

GARYISGIP
Length:559
Mass (Da):61,245
Last modified:July 22, 2008 - v3
Checksum:i18268B7A4C6A09F3
GO
Isoform 1 (identifier: P32189-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-250: Missing.
     528-556: Missing.

Show »
Length:524
Mass (Da):57,489
Checksum:i0FAA29ADC6054154
GO
Isoform 2 (identifier: P32189-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-250: Missing.

Show »
Length:553
Mass (Da):60,593
Checksum:i145FA42A6BEA104F
GO
Isoform 4 (identifier: P32189-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     528-556: Missing.

Note: No experimental confirmation available.
Show »
Length:530
Mass (Da):58,141
Checksum:iAC9EEBB80003DEE7
GO

Sequence cautioni

The sequence CAA48346 differs from that shown. Reason: Frameshift at positions 201, 210 and 459.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06898079N → K1 PublicationCorresponds to variant dbSNP:rs17857267Ensembl.1
Natural variantiVAR_068981131P → T1 PublicationCorresponds to variant dbSNP:rs17854203Ensembl.1
Natural variantiVAR_001374185S → N. 1
Natural variantiVAR_001375232N → H. 1
Natural variantiVAR_015433294N → D in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630331EnsemblClinVar.1
Natural variantiVAR_001376382A → T. 1
Natural variantiVAR_001377446D → V in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630328EnsemblClinVar.1
Natural variantiVAR_010138509W → R in GKD. 1 PublicationCorresponds to variant dbSNP:rs132630330EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000770245 – 250Missing in isoform 1 and isoform 2. 5 Publications6
Alternative sequenceiVSP_000771528 – 556Missing in isoform 1 and isoform 4. 4 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13943 mRNA Translation: AAA52576.1
X78211 Genomic DNA No translation available.
AJ252550
, AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252558, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252569, AJ252570 Genomic DNA Translation: CAB54859.1
AJ252550
, AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252569, AJ252570 Genomic DNA Translation: CAB54858.1
AJ252550
, AJ252551, AJ252552, AJ252553, AJ252554, AJ252555, AJ252556, AJ252557, AJ252559, AJ252560, AJ252561, AJ252562, AJ252563, AJ252564, AJ252565, AJ252566, AJ252567, AJ252568, AJ252570 Genomic DNA Translation: CAB54857.1
AK313215 mRNA Translation: BAG36030.1
AC005913 Genomic DNA No translation available.
AC112496 Genomic DNA No translation available.
AC117404 Genomic DNA No translation available.
BC037549 mRNA Translation: AAH37549.1
BC042421 mRNA Translation: AAH42421.1
BC071595 mRNA Translation: AAH71595.1
X68285 mRNA Translation: CAA48346.1 Frameshift.
X69886 mRNA Translation: CAA49512.1
CCDSiCCDS14225.1 [P32189-4]
CCDS35224.1 [P32189-1]
CCDS48090.1 [P32189-2]
CCDS75963.1 [P32189-3]
PIRiI37427 S36175
RefSeqiNP_000158.1, NM_000167.5 [P32189-1]
NP_001121599.1, NM_001128127.2 [P32189-2]
NP_001191948.1, NM_001205019.1 [P32189-3]
NP_976325.1, NM_203391.3 [P32189-4]
UniGeneiHs.1466

Genome annotation databases

EnsembliENST00000378943; ENSP00000368226; ENSG00000198814 [P32189-2]
ENST00000378945; ENSP00000368228; ENSG00000198814 [P32189-1]
ENST00000378946; ENSP00000368229; ENSG00000198814 [P32189-4]
ENST00000427190; ENSP00000401720; ENSG00000198814 [P32189-3]
GeneIDi2710
KEGGihsa:2710
UCSCiuc004dch.5 human [P32189-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLPK_HUMAN
AccessioniPrimary (citable) accession number: P32189
Secondary accession number(s): A6NJP5
, B2R833, Q6IQ27, Q8IVR5, Q9UMP0, Q9UMP1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: July 22, 2008
Last modified: June 20, 2018
This is version 184 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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