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Protein

Galactokinase

Gene

GALK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 metabolic process Source: UniProtKB
  • glycolytic process from galactose Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Carbohydrate metabolism, Galactose metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS03112-MONOMER.
BRENDAi2.7.1.6. 2681.
ReactomeiR-HSA-70370. Galactose catabolism.
SABIO-RKP51570.
UniPathwayiUPA00214.

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

HGNCiHGNC:4118. GALK1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Galactosemia II (GALCT2)5 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 rs104894572dbSNPEnsembl.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant rs104894576dbSNPEnsembl.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 rs80084721dbSNPEnsembl.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant rs575139300dbSNPEnsembl.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant rs759284637dbSNPEnsembl.1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant rs375690568dbSNPEnsembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant rs754967473dbSNPEnsembl.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.

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.

2D gel databases

OGPiP51570.
REPRODUCTION-2DPAGEIPI00019383.

PTM databases

iPTMnetiP51570.
PhosphoSitePlusiP51570.

Expressioni

Gene expression databases

BgeeiENSG00000108479.
CleanExiHS_GALK1.
ExpressionAtlasiP51570. baseline and differential.
GenevisibleiP51570. HS.

Organism-specific databases

HPAiHPA007094.
HPA016960.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108857. 16 interactors.
IntActiP51570. 11 interactors.
MINTiMINT-4999410.
STRINGi9606.ENSP00000225614.

Chemistry databases

BindingDBiP51570.

Structurei

Secondary structure

1392
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi9 – 24Combined sources16
Beta strandi29 – 41Combined sources13
Helixi46 – 48Combined sources3
Beta strandi51 – 68Combined sources18
Beta strandi72 – 77Combined sources6
Beta strandi80 – 82Combined sources3
Beta strandi86 – 91Combined sources6
Helixi105 – 107Combined sources3
Helixi108 – 116Combined sources9
Beta strandi118 – 120Combined sources3
Beta strandi124 – 131Combined sources8
Beta strandi137 – 139Combined sources3
Helixi141 – 156Combined sources16
Helixi163 – 176Combined sources14
Helixi185 – 192Combined sources8
Beta strandi197 – 202Combined sources6
Turni203 – 205Combined sources3
Beta strandi208 – 212Combined sources5
Beta strandi216 – 228Combined sources13
Turni233 – 235Combined sources3
Helixi236 – 249Combined sources14
Helixi260 – 263Combined sources4
Helixi266 – 269Combined sources4
Helixi272 – 296Combined sources25
Helixi300 – 316Combined sources17
Helixi323 – 333Combined sources11
Beta strandi338 – 343Combined sources6
Beta strandi348 – 357Combined sources10
Helixi358 – 360Combined sources3
Helixi361 – 371Combined sources11
Beta strandi377 – 381Combined sources5
Beta strandi387 – 389Combined sources3

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...

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.
OMAiRREECAQ.
OrthoDBiEOG091G06HT.
PhylomeDBiP51570.
TreeFamiTF354326.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProiIPR000705. Galactokinase.
IPR019741. Galactokinase_CS.
IPR019539. GalKase_gal-bd.
IPR013750. GHMP_kinase_C_dom.
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.
[Graphical view]
PANTHERiPTHR10457. PTHR10457. 1 hit.
PTHR10457:SF6. PTHR10457:SF6. 1 hit.
PfamiPF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000530. Galactokinase. 1 hit.
PRINTSiPR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsiTIGR00131. gal_kin. 1 hit.
PROSITEiPS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00851428P → T in GALCT2; founder Romani mutation. 3 PublicationsCorresponds to variant rs104894572dbSNPEnsembl.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant rs104894576dbSNPEnsembl.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 → M.1 PublicationCorresponds to variant rs773416476dbSNPEnsembl.1
Natural variantiVAR_015746198A → V in GALCT2; mild deficiency; Osaka. 2 PublicationsCorresponds to variant rs80084721dbSNPEnsembl.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant rs575139300dbSNPEnsembl.1
Natural variantiVAR_023491274G → D.1 PublicationCorresponds to variant rs547925860dbSNPEnsembl.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant rs759284637dbSNPEnsembl.1
Natural variantiVAR_023493338V → A.1 Publication1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant rs375690568dbSNPEnsembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant rs754967473dbSNPEnsembl.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

Cross-referencesi

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. 16 interactors.
IntActiP51570. 11 interactors.
MINTiMINT-4999410.
STRINGi9606.ENSP00000225614.

Chemistry databases

BindingDBiP51570.
ChEMBLiCHEMBL1293257.

PTM databases

iPTMnetiP51570.
PhosphoSitePlusiP51570.

Polymorphism and mutation databases

BioMutaiGALK1.
DMDMi1730187.

2D gel databases

OGPiP51570.
REPRODUCTION-2DPAGEIPI00019383.

Proteomic databases

EPDiP51570.
PaxDbiP51570.
PeptideAtlasiP51570.
PRIDEiP51570.

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.
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.
OMAiRREECAQ.
OrthoDBiEOG091G06HT.
PhylomeDBiP51570.
TreeFamiTF354326.

Enzyme and pathway databases

UniPathwayiUPA00214.
BioCyciZFISH:HS03112-MONOMER.
BRENDAi2.7.1.6. 2681.
ReactomeiR-HSA-70370. Galactose catabolism.
SABIO-RKP51570.

Miscellaneous databases

EvolutionaryTraceiP51570.
GenomeRNAii2584.
PROiP51570.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108479.
CleanExiHS_GALK1.
ExpressionAtlasiP51570. baseline and differential.
GenevisibleiP51570. HS.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProiIPR000705. Galactokinase.
IPR019741. Galactokinase_CS.
IPR019539. GalKase_gal-bd.
IPR013750. GHMP_kinase_C_dom.
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.
[Graphical view]
PANTHERiPTHR10457. PTHR10457. 1 hit.
PTHR10457:SF6. PTHR10457:SF6. 1 hit.
PfamiPF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000530. Galactokinase. 1 hit.
PRINTSiPR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsiTIGR00131. gal_kin. 1 hit.
PROSITEiPS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGALK1_HUMAN
AccessioniPrimary (citable) accession number: P51570
Secondary accession number(s): B2RC07, B4E1G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 172 of the entry and version 1 of the sequence. [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. Human chromosome 17
    Human chromosome 17: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.