Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] See more...

Aliases for GALK1 Gene

Aliases for GALK1 Gene

  • Galactokinase 1 2 3 5
  • Galactose Kinase 3 4
  • Galactokinase 3 4
  • EC 2.7.1.6 4 54
  • GALK 3 4
  • Epididymis Secretory Protein Li 19 3
  • HEL-S-19 3
  • GK1 3

External Ids for GALK1 Gene

Previous HGNC Symbols for GALK1 Gene

  • GALK

Previous GeneCards Identifiers for GALK1 Gene

  • GC17M073730
  • GC17M076780
  • GC17M074218
  • GC17M074351
  • GC17M071265
  • GC17M069178

Summaries for GALK1 Gene

Entrez Gene Summary for GALK1 Gene

  • Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALK1 Gene

GALK1 (Galactokinase 1) is a Protein Coding gene. Diseases associated with GALK1 include Galactokinase Deficiency and Galactosemia. Among its related pathways are Glycosaminoglycan metabolism and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include galactose binding and galactokinase activity. An important paralog of this gene is GALK2.

UniProtKB/Swiss-Prot Summary for GALK1 Gene

Additional gene information for GALK1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALK1 Gene

Genomics for GALK1 Gene

GeneHancer (GH) Regulatory Elements for GALK1 Gene

Promoters and enhancers for GALK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALK1 gene promoter:
  • AP-4
  • ARP-1
  • Bach2
  • Egr-4
  • HSF2
  • MRF-2
  • p300
  • Pax-2a
  • Pax-2b
  • Sox5

Genomic Locations for GALK1 Gene

Genomic Locations for GALK1 Gene
chr17:75,751,594-75,765,711
(GRCh38/hg38)
Size:
14,118 bases
Orientation:
Minus strand
chr17:73,747,675-73,761,792
(GRCh37/hg19)
Size:
14,118 bases
Orientation:
Minus strand

Genomic View for GALK1 Gene

Genes around GALK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALK1 Gene

Proteins for GALK1 Gene

  • Protein details for GALK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51570-GALK1_HUMAN
    Recommended name:
    Galactokinase
    Protein Accession:
    P51570
    Secondary Accessions:
    • B2RC07
    • B4E1G6

    Protein attributes for GALK1 Gene

    Size:
    392 amino acids
    Molecular mass:
    42272 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALK1 Gene

    Alternative splice isoforms for GALK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALK1 Gene

Selected DME Specific Peptides for GALK1 Gene

P51570:
  • PGRVNLIG
  • HALLIDCR
  • DGLVSLLTTS
  • AFGRLMVESH
  • RMTGGGFGG
  • ALLIDCRSL
  • ALGKESLREV
  • DCRSLET
  • NLIGEHTDYN
  • SLRDDYEV
  • GLSSSASLE

Post-translational modifications for GALK1 Gene

  • Ubiquitination at Lys69, Lys195, Lys217, and Lys272
  • Modification sites at PhosphoSitePlus

Other Protein References for GALK1 Gene

Domains & Families for GALK1 Gene

Gene Families for GALK1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GALK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56840, highly similar to Galactokinase (EC 2.7.1.6) (B4E1G6_HUMAN)
  • Galactokinase (C8CHJ5_HUMAN)
  • Galactokinase (C8CHJ6_HUMAN)
  • Galactokinase (D0EM88_HUMAN)
  • Galactokinase (D1MI96_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51570

UniProtKB/Swiss-Prot:

GALK1_HUMAN :
  • Belongs to the GHMP kinase family. GalK subfamily.
Family:
  • Belongs to the GHMP kinase family. GalK subfamily.
genes like me logo Genes that share domains with GALK1: view

Function for GALK1 Gene

Molecular function for GALK1 Gene

UniProtKB/Swiss-Prot Function:
Major enzyme for galactose metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-galactose + ATP = ADP + alpha-D-galactose 1-phosphate + H(+); Xref=Rhea:RHEA:13553, ChEBI:CHEBI:15378, ChEBI:CHEBI:28061, ChEBI:CHEBI:30616, ChEBI:CHEBI:58336, ChEBI:CHEBI:456216; EC=2.7.1.6;.
GENATLAS Biochemistry:
galactokinase 1

Enzyme Numbers (IUBMB) for GALK1 Gene

Phenotypes From GWAS Catalog for GALK1 Gene

Gene Ontology (GO) - Molecular Function for GALK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004335 galactokinase activity IEA,IDA 7542884
GO:0005524 ATP binding IDA,IEA 12694189
GO:0005534 galactose binding IEA,IDA 14596685
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GALK1: view
genes like me logo Genes that share phenotypes with GALK1: view

Human Phenotype Ontology for GALK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALK1 Gene

MGI Knock Outs for GALK1:

Animal Model Products

CRISPR Products

miRNA for GALK1 Gene

miRTarBase miRNAs that target GALK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALK1

Clone Products

  • Addgene plasmids for GALK1

No data available for Transcription Factor Targets and HOMER Transcription for GALK1 Gene

Localization for GALK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALK1 gene
Compartment Confidence
cytosol 4
golgi apparatus 2
extracellular 1
cytoskeleton 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GALK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 8908517
GO:0005829 cytosol TAS --
GO:0016020 NOT membrane IDA,HDA 8908517
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GALK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GALK1 Gene

Pathways & Interactions for GALK1 Gene

genes like me logo Genes that share pathways with GALK1: view

Pathways by source for GALK1 Gene

1 BioSystems pathway for GALK1 Gene
3 Reactome pathways for GALK1 Gene
1 GeneGo (Thomson Reuters) pathway for GALK1 Gene

UniProtKB/Swiss-Prot P51570-GALK1_HUMAN

  • Pathway: Carbohydrate metabolism; galactose metabolism.

Gene Ontology (GO) - Biological Process for GALK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006012 galactose metabolic process IEA,IMP 15024738
GO:0016310 phosphorylation IEA --
GO:0019388 galactose catabolic process TAS --
GO:0019402 galactitol metabolic process IEA --
genes like me logo Genes that share ontologies with GALK1: view

No data available for SIGNOR curated interactions for GALK1 Gene

Drugs & Compounds for GALK1 Gene

(15) Drugs for GALK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galactose Approved, Investigational Pharma 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(12) Additional Compounds for GALK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Beta-D-Galactose
  • beta-D-Gal
  • Gal-beta
  • b-D-Gal
  • β-D-gal
  • b-D-Galactose
7296-64-2
Glucose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
2255-14-3, 59-56-3
genes like me logo Genes that share compounds with GALK1: view

Transcripts for GALK1 Gene

mRNA/cDNA for GALK1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALK1

Clone Products

  • Addgene plasmids for GALK1

Alternative Splicing Database (ASD) splice patterns (SP) for GALK1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
SP1: - - -
SP2: -
SP3: - - - -
SP4:
SP5: -
SP6: - -
SP7:

Relevant External Links for GALK1 Gene

GeneLoc Exon Structure for
GALK1
ECgene alternative splicing isoforms for
GALK1

Expression for GALK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALK1 Gene

mRNA differential expression in normal tissues according to GTEx for GALK1 Gene

This gene is overexpressed in Liver (x5.9) and Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for GALK1 Gene

This gene is overexpressed in Bone (21.5) and Fetal Liver (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALK1 Gene



Protein tissue co-expression partners for GALK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALK1 Gene:

GALK1

SOURCE GeneReport for Unigene cluster for GALK1 Gene:

Hs.407966

Evidence on tissue expression from TISSUES for GALK1 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
Thorax:
  • esophagus
Abdomen:
  • intestine
  • kidney
  • liver
  • small intestine
  • stomach
Pelvis:
  • ovary
General:
  • blood
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GALK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GALK1 Gene

Orthologs for GALK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALK1 33 32
  • 99.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GALK1 33 32
  • 88.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GALK1 33 32
  • 88.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galk1 32
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Galk1 17 33 32
  • 85.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALK1 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALK1 33
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALK1 33 32
  • 69.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALK1 33
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galk1 32
  • 62.66 (n)
Str.16350 32
zebrafish
(Danio rerio)
Actinopterygii galk1 33 32
  • 61.65 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002914 32
  • 58.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL1 33
  • 21 (a)
ManyToMany
GAL3 33
  • 21 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GalAK 32
  • 39.75 (n)
rice
(Oryza sativa)
Liliopsida Os04g0608100 32
  • 40.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 50 (a)
OneToOne
Cin.1715 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1715 32
Species where no ortholog for GALK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GALK1 Gene

ENSEMBL:
Gene Tree for GALK1 (if available)
TreeFam:
Gene Tree for GALK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALK1: view image

Paralogs for GALK1 Gene

Paralogs for GALK1 Gene

(2) SIMAP similar genes for GALK1 Gene using alignment to 7 proteins:

  • GALK1_HUMAN
  • B4E1G6_HUMAN
  • E5LAN0_HUMAN
  • K7EII7_HUMAN
  • K7ERJ9_HUMAN
  • K7ERN9_HUMAN
  • Q71UH7_HUMAN
genes like me logo Genes that share paralogs with GALK1: view

Variants for GALK1 Gene

Sequence variations from dbSNP and Humsavar for GALK1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1026685248 likely-pathogenic, Deficiency of galactokinase 75,758,300(-) A/G/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894572 pathogenic, Deficiency of galactokinase, Galactosemia II (GALCT2) [MIM:230200] 75,765,055(-) G/A/T coding_sequence_variant, missense_variant
rs104894576 uncertain-significance, Deficiency of galactokinase, Galactosemia II (GALCT2) [MIM:230200] 75,765,043(-) C/T coding_sequence_variant, missense_variant
rs104894577 pathogenic, Deficiency of galactokinase 75,764,014(-) C/A coding_sequence_variant, stop_gained
rs111033608 pathogenic, Deficiency of galactokinase 75,758,091(-) G/A coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for GALK1 Gene

Variant ID Type Subtype PubMed ID
nsv470606 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv833544 CNV loss 17160897
nsv833545 CNV gain 17160897

Variation tolerance for GALK1 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALK1 Gene

Human Gene Mutation Database (HGMD)
GALK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALK1 Gene

Disorders for GALK1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GALK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
galactokinase deficiency
  • galk deficiency
galactosemia
  • galk deficiency
galactose epimerase deficiency
  • gale deficiency
epimerase deficiency galactosemia
  • gale deficiency
epidermolysis bullosa junctionalis with pyloric atresia
  • epidermolysis bullosa, junctional, with pyloric atresia
- elite association - COSMIC cancer census association via MalaCards
Search GALK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALK1_HUMAN
  • Galactosemia II (GALCT2) [MIM:230200]: Autosomal 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. {ECO:0000269 PubMed:10521295, ECO:0000269 PubMed:10790206, ECO:0000269 PubMed:11139256, ECO:0000269 PubMed:11231902, ECO:0000269 PubMed:12694189, ECO:0000269 PubMed:15024738}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALK1 Gene

cataract,autosomal recessive,characterized by neonal jaundice,juvenile cataract occuring in the first weeks of life,due to accumulation of galactitol,alternative product of galactose utilisation in lens,hyperbilirubinemia

Additional Disease Information for GALK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GALK1: view

Publications for GALK1 Gene

  1. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. (PMID: 12942049) Maraini G … Reed G (Molecular vision 2003) 3 4 23 43 56
  2. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. (PMID: 11231902) Okano Y … Yamano T (American journal of human genetics 2001) 3 4 23 43 56
  3. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. (PMID: 7670469) Stambolian D … Bergsma DJ (Nature genetics 1995) 2 3 4 23 56
  4. A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype. (PMID: 19309526) Park HD … Song J (BMC medical genetics 2009) 3 23 43 56
  5. Molecular structure of human galactokinase: implications for type II galactosemia. (PMID: 15590630) Thoden JB … Holden HM (The Journal of biological chemistry 2005) 3 4 23 56

Products for GALK1 Gene

  • Boster Bio Antibodies for GALK1
  • Boster Bio ELISA Kits for GALK1

Sources for GALK1 Gene