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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
External Ids for GALK1 Gene
- HGNC: 4118
- Entrez Gene: 2584
- Ensembl: ENSG00000108479
- OMIM: 604313
- UniProtKB: P51570
Previous HGNC Symbols for GALK1 Gene
- GALK
Previous GeneCards Identifiers for GALK1 Gene
- GC17M073730
- GC17M076780
- GC17M074218
- GC17M074351
- GC17M071265
- GC17M069178
Summaries 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 Iii. Among its related pathways are Galactose metabolism and 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
-
Major enzyme for galactose metabolism.
Additional gene information for GALK1 Gene
- HGNC(4118)
- Entrez Gene(2584)
- Ensembl(ENSG00000108479)
- OMIM(604313)
- UniProtKB(P51570)
- Open Targets Platform(ENSG00000108479)
- Monarch Initiative
- Search for GALK1 at DataMed
- Search for GALK1 at HumanCyc
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
Genomic Locations for GALK1 Gene
- chr17:75,751,469-75,765,236
- (GRCh38/hg38)
- Size:
- 13,768 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:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
GALK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for GALK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- GeneTex Anti-GALK1 antibody [N3C3] and Anti-GALK1 antibody
-
Custom Antibody ServicesOriGene Antibodies for GALK1
- Novus Biologicals Antibodies for GALK1
- Invitrogen Antibodies for GALK1 (AFLGC-GALK1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GALK1
- Sino Biological Antibodies for GALK1
Protein Products
- G Biosciences Human Galactokinase/GALK1, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for GALK1
- Origene Custom Protein Services for GALK1
- Sino Biological Recombinant Proteins for GALK1
- Sino Biological Cell Lysates for GALK1
- ProSpec Recombinant Proteins for GALK1
-
ProSci Proteins for GALK1
-
Abcam proteins for GALK1
Assay Products
- antibodies-online: Show 11 available GALK1 Elisa Kits ranked by validation data
- Compare Top GALK1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for GALK1
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
- InterPro:
- Blocks:
-
- GHMP kinase, ATP-binding region
- GHMP kinase, C-terminal
- Galactokinase
- ProtoNet:
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- Family:
-
- Belongs to the GHMP kinase family. GalK subfamily.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004335 | galactokinase activity | IEA,IDA | 7542884 |
| GO:0005524 | ATP binding | IEA,IDA | 12694189 |
| GO:0005534 | galactose binding | IEA,IDA | 14596685 |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for GALK1 Gene
- MGI mutant phenotypes for GALK1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GALK1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased cell death HMECs cells
- Decreased vaccinia virus (VACV) infection
- Increased IL-8 secretion
- Decreased Salmonella enterica Typhimurium invasion
- shRNA abundance <= 25%
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Decreased viability
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased caspase activity
- Decreased replication of vaccinia virus (VACV)
- Diffuse trans-Golgi
Animal Models for GALK1 Gene
- MGI Knock Outs for GALK1:
-
- Galk1 Galk1<tm1Stb>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALK1 - Select products 50% OFF >
- * GALK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GALK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GALK1
miRNA for GALK1 Gene
- miRTarBase miRNAs that target GALK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALK1
- Browse OriGene Inhibitory RNA Products For GALK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALK1
Clone Products
- Applied Biological Materials (abm): Clones for GALK1 - Select products 50% OFF >
- * GALK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALK1
- Addgene plasmids for GALK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALK1
Cell Line Products
-
Horizon Cell Lines for GALK1
No data available for Transcription Factor Targets and HOMER Transcription for GALK1 Gene
Localization 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 |
- Cytosol (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA,IDA | 8908517 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | NOT membrane | HDA,IDA | 8908517 |
| GO:0070062 | extracellular exosome | HDA | 19056867 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GALK1 Gene
Pathways & Interactions for GALK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Galactose metabolism |
Galactose metabolism
.38
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Amino sugar and nucleotide sugar metabolism | ||
| 4 | Glycosaminoglycan metabolism | ||
Pathways by source for GALK1 Gene
1 BioSystems pathway for GALK1 Gene
3 Reactome pathways for GALK1 Gene
3 KEGG 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.
Interacting Proteins for GALK1 Gene
Selected Interacting proteins:
P51570-GALK1_HUMAN
ENSP00000465930
for GALK1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for GALK1
| 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 | -- |
No data available for SIGNOR curated interactions for GALK1 Gene
Drugs & Compounds for GALK1 Gene
| 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, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| Beta-D-Galactose |
|
7296-64-2 |
|
|||
| Glucose 1-phosphate |
|
2255-14-3, 59-56-3 |
|
Drug Products
- G Biosciences Human Galactokinase/GALK1, Liquid
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 :
-
- ENST00000225614 1445 nts (view in UCSC)
- ENST00000586244 1180 nts (view in UCSC)
- ENST00000586733 465 nts (view in UCSC)
- ENST00000587707 667 nts (view in UCSC)
- ENST00000588479 1397 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GALK1 - Select products 50% OFF >
- * GALK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GALK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for GALK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALK1
- Browse OriGene Inhibitory RNA Products For GALK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALK1
Clone Products
- Applied Biological Materials (abm): Clones for GALK1 - Select products 50% OFF >
- * GALK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GALK1
- Addgene plasmids for GALK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALK1
| 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 differential expression in normal tissues according to GTEx for GALK1 Gene
This gene is overexpressed in Liver (x5.9) and Whole Blood (x5.2).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALK1
SOURCE GeneReport for Unigene cluster for GALK1 Gene:
Hs.407966Evidence on tissue expression from TISSUES for GALK1 Gene
- Nervous system(4.6)
- Liver(4.6)
- Lung(4.4)
- Skin(2.6)
- Kidney(2.5)
- Intestine(2.5)
- Blood(2.4)
- Stomach(2.3)
- Thyroid gland(2.3)
- Heart(2.1)
- Eye(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
Primer Products
-
OriGene qPCR primer pairs for GALK1
-
OriGene qPCR primer pairs and template standards for GALK1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GALK1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Galk1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Galk1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GALK1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GALK1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GALK1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GALK1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galk1 30 |
|
||
| Str.16350 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | galk1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002914 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GAL1 31 |
|
ManyToMany | |
| GAL3 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GalAK 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os04g0608100 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
|---|---|---|---|---|---|
| 5632 | Pathogenic: Deficiency of galactokinase | 75,762,735(-) | GC/G | FRAMESHIFT_VARIANT | |
| 646613 | Pathogenic: Deficiency of galactokinase | 75,762,731(-) | G/A | MISSENSE_VARIANT | |
| 702303 | Likely Benign: Deficiency of galactokinase | 75,758,458(-) | C/T | MISSENSE_VARIANT | |
| 702627 | Likely Benign: Deficiency of galactokinase | 75,763,363(-) | G/A | SYNONYMOUS_VARIANT | |
| 703008 | Benign/Likely Benign: Deficiency of galactokinase | 75,758,205(-) | C/T | INTRON_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALK1 Gene
Disorders for GALK1 Gene
(19) MalaCards diseases for GALK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| galactosemia ii |
|
|
| galactosemia iii |
|
|
| galactosemia i |
|
|
| lowe oculocerebrorenal syndrome |
|
|
| mevalonic aciduria |
|
|
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
- Open Targets Platform
Publications for GALK1 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for GALK1 Gene
- Custom Antibody ServicesOriGene Antibodies for GALK1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for GALK1
- Origene Custom Protein Services for GALK1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GALK1
- Browse OriGene Inhibitory RNA Products For GALK1
- OriGene qPCR primer pairs for GALK1
- OriGene qPCR primer pairs and template standards for GALK1
- OriGene CRISPR knockouts for GALK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GALK1
- Sino Biological Human cDNA Clone for GALK1
- Sino Biological Recombinant Proteins for GALK1
- Sino Biological Cell Lysates for GALK1
- Sino Biological Antibodies for GALK1
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GALK1
- Novus Biologicals proteins and lysates for GALK1
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- Abcam proteins for GALK1
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for GALK1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GALK1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GALK1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GALK1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GALK1
- Addgene plasmids for GALK1
- antibodies-online: Show 23 available GALK1 Antibodies ranked by validation data
- Compare Top GALK1 Antibodies
- antibodies-online: Show 11 available GALK1 Elisa Kits ranked by validation data
- Compare Top GALK1 Elisa Kits
- Quality Products:
- antibodies-online: Show 65 available GALK1 Proteins ranked by validation data
- Compare Top GALK1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for GALK1
- Search Santa Cruz Biotechnology (SCBT) for GALK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GALK1
- Search for GALK1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for GALK1
- Horizon Cell Lines for GALK1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GALK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GALK1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GALK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALK1
Sources for GALK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB