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Protein

Galactokinase

Gene

GALK1

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

Functioni

Major enzyme for galactose metabolism.

Catalytic activityi

ATP + alpha-D-galactose = ADP + alpha-D-galactose 1-phosphate.

Pathwayi: galactose metabolism

This protein is involved in the pathway galactose metabolism, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway galactose metabolism and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei37Transition state stabilizerCurated1
Active sitei186Proton acceptorBy similarity1
Binding sitei236Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi134 – 144ATPAdd BLAST11

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • galactokinase activity Source: UniProtKB
  • galactose binding Source: UniProtKB

GO - Biological processi

  • galactitol metabolic process Source: Ensembl
  • galactose catabolic process Source: Reactome
  • galactose catabolic process via UDP-galactose Source: GO_Central
  • galactose metabolic process Source: UniProtKB
  • glycolytic process from galactose Source: Ensembl

Keywordsi

Molecular functionKinase, Transferase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03112-MONOMER
BRENDAi2.7.1.6 2681
ReactomeiR-HSA-5609976 Defective GALK1 can cause Galactosemia II (GALCT2)
R-HSA-70370 Galactose catabolism
SABIO-RKiP51570
UniPathwayi
UPA00214

Names & Taxonomyi

Protein namesi
Recommended name:
Galactokinase (EC:2.7.1.6)
Alternative name(s):
Galactose kinase
Gene namesi
Name:GALK1
Synonyms:GALK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108479.11
HGNCiHGNC:4118 GALK1
MIMi604313 gene
neXtProtiNX_P51570

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

Pathology & Biotechi

Involvement in diseasei

Galactosemia II (GALCT2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
See also OMIM:230200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00851428P → T in GALCT2; founder Romani mutation. 3 PublicationsCorresponds to variant dbSNP:rs104894572EnsemblClinVar.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant dbSNP:rs104894576EnsemblClinVar.1
Natural variantiVAR_02348636G → R in GALCT2. 2 Publications1
Natural variantiVAR_02348744H → Y in GALCT2. 2 Publications1
Natural variantiVAR_02348868R → C in GALCT2. 2 Publications1
Natural variantiVAR_015746198A → V in GALCT2; mild deficiency; Osaka. 2 PublicationsCorresponds to variant dbSNP:rs80084721EnsemblClinVar.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant dbSNP:rs575139300EnsemblClinVar.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs759284637EnsemblClinVar.1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs375690568Ensembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs754967473EnsemblClinVar.1
Natural variantiVAR_023496384A → P in GALCT2. 2 Publications1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi2584
MalaCardsiGALK1
MIMi230200 phenotype
OpenTargetsiENSG00000108479
Orphaneti79237 Galactokinase deficiency
PharmGKBiPA28533

Chemistry databases

ChEMBLiCHEMBL1293257
DrugBankiDB04395 Phosphoaminophosphonic Acid-Adenylate Ester

Polymorphism and mutation databases

BioMutaiGALK1
DMDMi1730187

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001846451 – 392GalactokinaseAdd BLAST392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei230PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP51570
PaxDbiP51570
PeptideAtlasiP51570
PRIDEiP51570
ProteomicsDBi56333

2D gel databases

OGPiP51570
REPRODUCTION-2DPAGEiIPI00019383

PTM databases

iPTMnetiP51570
PhosphoSitePlusiP51570

Expressioni

Gene expression databases

BgeeiENSG00000108479 Expressed in 105 organ(s), highest expression level in right lobe of liver
CleanExiHS_GALK1
ExpressionAtlasiP51570 baseline and differential
GenevisibleiP51570 HS

Organism-specific databases

HPAiHPA007094
HPA016960

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108857, 22 interactors
IntActiP51570, 18 interactors
MINTiP51570
STRINGi9606.ENSP00000225614

Chemistry databases

BindingDBiP51570

Structurei

Secondary structure

1392
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP51570
SMRiP51570
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP51570

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni43 – 46Substrate binding4
Regioni183 – 186Substrate binding4

Sequence similaritiesi

Belongs to the GHMP kinase family. GalK subfamily.Curated

Phylogenomic databases

eggNOGiKOG0631 Eukaryota
COG0153 LUCA
GeneTreeiENSGT00530000063433
HOGENOMiHOG000241100
HOVERGENiHBG051695
InParanoidiP51570
KOiK00849
OMAiTHQDYKG
OrthoDBiEOG091G06HT
PhylomeDBiP51570
TreeFamiTF354326

Family and domain databases

Gene3Di3.30.230.10, 1 hit
3.30.70.890, 1 hit
InterProiView protein in InterPro
IPR000705 Galactokinase
IPR019741 Galactokinase_CS
IPR019539 GalKase_gal-bd
IPR013750 GHMP_kinase_C_dom
IPR036554 GHMP_kinase_C_sf
IPR006204 GHMP_kinase_N_dom
IPR006203 GHMP_knse_ATP-bd_CS
IPR006206 Mevalonate/galactokinase
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10457:SF6 PTHR10457:SF6, 1 hit
PfamiView protein in Pfam
PF10509 GalKase_gal_bdg, 1 hit
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit
PIRSFiPIRSF000530 Galactokinase, 1 hit
PRINTSiPR00473 GALCTOKINASE
SUPFAMiSSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit
TIGRFAMsiTIGR00131 gal_kin, 1 hit
PROSITEiView protein in PROSITE
PS00106 GALACTOKINASE, 1 hit
PS00627 GHMP_KINASES_ATP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51570-1) [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
MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG
60 70 80 90 100
LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE
110 120 130 140 150
PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY
160 170 180 190 200
TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL
210 220 230 240 250
IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL
260 270 280 290 300
GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY
310 320 330 340 350
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG
360 370 380 390
CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL
Length:392
Mass (Da):42,272
Last modified:October 1, 1996 - v1
Checksum:i8D7CFF8FDB0E4718
GO
Isoform 2 (identifier: P51570-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCAPPRGAPPEHPAPTGLCRSSCAELQARVM

Note: No experimental confirmation available.
Show »
Length:422
Mass (Da):45,358
Checksum:i4ACD28D6352F019C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERJ9K7ERJ9_HUMAN
Galactokinase
GALK1
120Annotation score:
K7ERN9K7ERN9_HUMAN
Galactokinase
GALK1
91Annotation score:
K7EII7K7EII7_HUMAN
Galactokinase
GALK1
184Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00851428P → T in GALCT2; founder Romani mutation. 3 PublicationsCorresponds to variant dbSNP:rs104894572EnsemblClinVar.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant dbSNP:rs104894576EnsemblClinVar.1
Natural variantiVAR_02348636G → R in GALCT2. 2 Publications1
Natural variantiVAR_02348744H → Y in GALCT2. 2 Publications1
Natural variantiVAR_02348868R → C in GALCT2. 2 Publications1
Natural variantiVAR_023489184I → M1 PublicationCorresponds to variant dbSNP:rs773416476Ensembl.1
Natural variantiVAR_015746198A → V in GALCT2; mild deficiency; Osaka. 2 PublicationsCorresponds to variant dbSNP:rs80084721EnsemblClinVar.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant dbSNP:rs575139300EnsemblClinVar.1
Natural variantiVAR_023491274G → D1 PublicationCorresponds to variant dbSNP:rs959842362EnsemblClinVar.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs759284637EnsemblClinVar.1
Natural variantiVAR_023493338V → A1 Publication1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs375690568Ensembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs754967473EnsemblClinVar.1
Natural variantiVAR_023496384A → P in GALCT2. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0550791M → MCAPPRGAPPEHPAPTGLCR SSCAELQARVM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U26401 mRNA Translation: AAA96147.1
L76927 Genomic DNA Translation: AAB51607.1
AK303832 mRNA Translation: BAG64778.1
AK314890 mRNA Translation: BAG37404.1
BT007005 mRNA Translation: AAP35651.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89316.1
BC001166 mRNA Translation: AAH01166.1
CCDSiCCDS11728.1 [P51570-1]
RefSeqiNP_000145.1, NM_000154.1 [P51570-1]
UniGeneiHs.407966

Genome annotation databases

EnsembliENST00000225614; ENSP00000225614; ENSG00000108479 [P51570-1]
ENST00000588479; ENSP00000465930; ENSG00000108479 [P51570-1]
GeneIDi2584
KEGGihsa:2584

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Galactosemia Proteins Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U26401 mRNA Translation: AAA96147.1
L76927 Genomic DNA Translation: AAB51607.1
AK303832 mRNA Translation: BAG64778.1
AK314890 mRNA Translation: BAG37404.1
BT007005 mRNA Translation: AAP35651.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89316.1
BC001166 mRNA Translation: AAH01166.1
CCDSiCCDS11728.1 [P51570-1]
RefSeqiNP_000145.1, NM_000154.1 [P51570-1]
UniGeneiHs.407966

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WUUX-ray2.50A/B/C/D2-392[»]
1YH7model-A1-392[»]
ProteinModelPortaliP51570
SMRiP51570
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108857, 22 interactors
IntActiP51570, 18 interactors
MINTiP51570
STRINGi9606.ENSP00000225614

Chemistry databases

BindingDBiP51570
ChEMBLiCHEMBL1293257
DrugBankiDB04395 Phosphoaminophosphonic Acid-Adenylate Ester

PTM databases

iPTMnetiP51570
PhosphoSitePlusiP51570

Polymorphism and mutation databases

BioMutaiGALK1
DMDMi1730187

2D gel databases

OGPiP51570
REPRODUCTION-2DPAGEiIPI00019383

Proteomic databases

EPDiP51570
PaxDbiP51570
PeptideAtlasiP51570
PRIDEiP51570
ProteomicsDBi56333

Protocols and materials databases

DNASUi2584
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000225614; ENSP00000225614; ENSG00000108479 [P51570-1]
ENST00000588479; ENSP00000465930; ENSG00000108479 [P51570-1]
GeneIDi2584
KEGGihsa:2584

Organism-specific databases

CTDi2584
DisGeNETi2584
EuPathDBiHostDB:ENSG00000108479.11
GeneCardsiGALK1
HGNCiHGNC:4118 GALK1
HPAiHPA007094
HPA016960
MalaCardsiGALK1
MIMi230200 phenotype
604313 gene
neXtProtiNX_P51570
OpenTargetsiENSG00000108479
Orphaneti79237 Galactokinase deficiency
PharmGKBiPA28533
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0631 Eukaryota
COG0153 LUCA
GeneTreeiENSGT00530000063433
HOGENOMiHOG000241100
HOVERGENiHBG051695
InParanoidiP51570
KOiK00849
OMAiTHQDYKG
OrthoDBiEOG091G06HT
PhylomeDBiP51570
TreeFamiTF354326

Enzyme and pathway databases

UniPathwayi
UPA00214

BioCyciMetaCyc:HS03112-MONOMER
BRENDAi2.7.1.6 2681
ReactomeiR-HSA-5609976 Defective GALK1 can cause Galactosemia II (GALCT2)
R-HSA-70370 Galactose catabolism
SABIO-RKiP51570

Miscellaneous databases

EvolutionaryTraceiP51570
GenomeRNAii2584
PROiPR:P51570
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108479 Expressed in 105 organ(s), highest expression level in right lobe of liver
CleanExiHS_GALK1
ExpressionAtlasiP51570 baseline and differential
GenevisibleiP51570 HS

Family and domain databases

Gene3Di3.30.230.10, 1 hit
3.30.70.890, 1 hit
InterProiView protein in InterPro
IPR000705 Galactokinase
IPR019741 Galactokinase_CS
IPR019539 GalKase_gal-bd
IPR013750 GHMP_kinase_C_dom
IPR036554 GHMP_kinase_C_sf
IPR006204 GHMP_kinase_N_dom
IPR006203 GHMP_knse_ATP-bd_CS
IPR006206 Mevalonate/galactokinase
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10457:SF6 PTHR10457:SF6, 1 hit
PfamiView protein in Pfam
PF10509 GalKase_gal_bdg, 1 hit
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit
PIRSFiPIRSF000530 Galactokinase, 1 hit
PRINTSiPR00473 GALCTOKINASE
SUPFAMiSSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit
TIGRFAMsiTIGR00131 gal_kin, 1 hit
PROSITEiView protein in PROSITE
PS00106 GALACTOKINASE, 1 hit
PS00627 GHMP_KINASES_ATP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGALK1_HUMAN
AccessioniPrimary (citable) accession number: P51570
Secondary accession number(s): B2RC07, B4E1G6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 187 of the entry and version 1 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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