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 51
  • GALK 3 4
  • Epididymis Secretory Protein Li 19 3
  • HEL-S-19 3
  • GALK1 5
  • 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 Galactosemia Ii and Galactosemia I. Among its related pathways are Galactose metabolism and Glycosaminoglycan 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

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 Pubs

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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALK1

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

Latest Assembly
chr17:75,751,469-75,765,236
(GRCh38/hg38)
Size:
13,768 bases
Orientation:
Minus strand

Previous Assembly
chr17:73,747,550-73,761,273
(GRCh37/hg19 by Entrez Gene)
Size:
13,724 bases
Orientation:
Minus strand

chr17:73,747,675-73,761,792
(GRCh37/hg19 by Ensembl)
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.
    SequenceCaution:
    • Sequence=BAG64778.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=EAW89316.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GALK1 Gene

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

Protein Domains for GALK1 Gene

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:0000166 nucleotide binding IEA --
GO:0004335 galactokinase activity IEA,IDA 7542884
GO:0005515 protein binding IPI 32296183
GO:0005524 ATP binding IEA,IDA 12694189
GO:0005534 galactose binding IDA 14596685
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:

miRNA for GALK1 Gene

miRTarBase miRNAs that target GALK1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

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 IDA 8908517
GO:0005829 cytosol TAS --
GO:0016020 NOT membrane HDA,IDA 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
  • Galactose metabolism

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
Galactose 1-phosphate Experimental Pharma 0
ATP Investigational Nutra 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
58-64-0
beta-D-Galactose
  • beta-D-Gal
  • Gal-beta
  • b-D-Gal
  • β-D-Gal
  • b-D-Galactose
7296-64-2
D-Galactose
  • ALPHA D-GALACTOSE
  • alpha-D-Gal
  • Gal-alpha
  • alpha-D-Galactose
  • a D-GALACTOSE
3646-73-9
genes like me logo Genes that share compounds with GALK1: view

Transcripts for GALK1 Gene

mRNA/cDNA for GALK1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for GALK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALK1

SOURCE GeneReport for Unigene cluster for GALK1 Gene:

Hs.407966

Evidence on tissue expression from TISSUES for GALK1 Gene

  • Nervous system(4.6)
  • Liver(4.6)
  • Lung(4.4)
  • Intestine(2.4)
  • Kidney(2.4)
  • Skin(2.4)
  • Blood(2.3)
  • Stomach(2.2)
  • Thyroid gland(2.1)
  • Heart(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 30 31
  • 99.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALK1 30 31
  • 88.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GALK1 30 31
  • 88.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Galk1 30
  • 85.88 (n)
Mouse
(Mus musculus)
Mammalia Galk1 30 17 31
  • 85.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GALK1 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GALK1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GALK1 30 31
  • 69.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GALK1 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia galk1 30
  • 62.66 (n)
Str.16350 30
Zebrafish
(Danio rerio)
Actinopterygii galk1 30 31
  • 61.65 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002914 30
  • 58.6 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAL1 31
  • 21 (a)
ManyToMany
GAL3 31
  • 21 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GalAK 30
  • 39.75 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0608100 30
  • 40.54 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1715 30
Species where no ortholog for GALK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALK1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
863469 Pathogenic: Deficiency of galactokinase 75,763,954(-) C/A
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NONSENSE
888974 Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia 75,754,659(-) G/A
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)
MISSENSE
888975 Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia 75,754,697(-) C/T
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=)
SYNONYMOUS
889033 Uncertain Significance: Epidermolysis bullosa junctionalis with pyloric atresia 75,756,995(-) C/T
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=)
SYNONYMOUS
889034 Likely Benign: Epidermolysis bullosa junctionalis with pyloric atresia 75,757,185(-) A/T
NM_000213.5(ITGB4):c.5219-15A>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GALK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for GALK1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for GALK1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
galactosemia ii
  • galac2
galactosemia i
  • galac1
epidermolysis bullosa with pyloric atresia
  • carmi syndrome
epidermolysis bullosa junctionalis with pyloric atresia
  • epidermolysis bullosa, junctional, with pyloric atresia
galactosemia iii
  • galac3
- 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 2 (GALAC2) [MIM:230200]: A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. {ECO:0000269 PubMed:10521295, ECO:0000269 PubMed:10790206, ECO:0000269 PubMed:11139256, ECO:0000269 PubMed:11231902, ECO:0000269 PubMed:12694189, ECO:0000269 PubMed:15024738, ECO:0000269 PubMed:7670469}. Note=The disease is caused by variants 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GALK1: view

Publications for GALK1 Gene

  1. 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 74
  2. 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 41
  3. 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 41
  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 41
  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

Products for GALK1 Gene

Sources for GALK1 Gene