Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GALK1 Gene

protein-coding   GIFtS: 71
GCID: GC17M073730

Galactokinase 1


(Previous symbol: GALK)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Galactokinase 11 2     GK12
GALK1 2 3     HEL-S-192
Galactose Kinase2 3     Epididymis Secretory Protein Li 192
EC 2.7.1.63 8     galactokinase2

External Ids:    HGNC: 41181   Entrez Gene: 25842   Ensembl: ENSG000001084797   OMIM: 6043135   UniProtKB: P515703   

Export aliases for GALK1 gene to outside databases

Previous GC identifers: GC17M076780 GC17M074218 GC17M074351 GC17M071265 GC17M069178


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 with cataracts, and galactokinase deficiency. GO annotations related to this gene include galactose binding and galactokinase activity. An important paralog of this gene is GALK2.

UniProtKB/Swiss-Prot: GALK1_HUMAN, P51570
Function: Major enzyme for galactose metabolism




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GALK1 gene promoter:
         Sox5   Bach2   p300   Pax-2a   AP-4   Egr-4   Pax-2b   HSF2   ARP-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGALK1 promoter sequence
   Search Chromatin IP Primers for GALK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

GALK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALK1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073730:  view genomic region     (about GC identifiers)

Start:
73,747,675 bp from pter      End:
73,761,792 bp from pter
Size:
14,118 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GALK1_HUMAN, P51570 (See protein sequence)
Recommended Name: Galactokinase  
Size: 392 amino acids; 42272 Da
Subunit: Homodimer (Probable)
2 PDB 3D structures from and Proteopedia for GALK1:
1WUU (3D)        1YH7 (3D)    
Secondary accessions: B2RC07

Explore the universe of human proteins at neXtProt for GALK1: NX_P51570

Explore proteomics data for GALK1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys69, Lys195, Lys217, Lys272
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GALK1 (P51570) (see all 11)
     DCRSLET  SLRDDYEV  PGRVNLIG  HALLIDCR 


    See GALK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000145.1  
    ENSEMBL proteins: 
     ENSP00000225614   ENSP00000464765   ENSP00000465930   ENSP00000468341   ENSP00000468288  
     ENSP00000406305  
    Reactome Protein details: P51570

    GALK1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for GALK1
    OriGene Protein Over-expression Lysate for GALK1
    OriGene MassSpec for GALK1
    OriGene Custom Protein Services for GALK1
    GenScript Custom Purified and Recombinant Proteins Services for GALK1
    Novus Biologicals GALK1 Proteins
    Novus Biologicals GALK1 Lysate
    Sino Biological Recombinant Protein for GALK1
    Sino Biological Cell Lysate for GALK1
    ProSpec Recombinant Protein for GALK1
    Cloud-Clone Corp. Proteins for GALK1

    GALK1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for GALK1
    OriGene Custom Antibody Services for GALK1
    Novus Biologicals GALK1 Antibodies
    Abcam antibodies for GALK1
    Cloud-Clone Corp. Antibodies for GALK1
    ThermoFisher Antibodies for GALK1
    LSBio Antibodies in human, mouse, rat for GALK1

    GALK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GALK1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GALK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GALK1
    Cloud-Clone Corp. CLIAs for GALK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 9):
     IPR000705 Galactokinase
     IPR006206 Mevalonate/galactokinase
     IPR019741 Galactokinase_CS
     IPR019539 GalKase_gal-bd
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry P51570

    ProtoNet protein and cluster: P51570

    3 Blocks protein domains:
    IPB000705 Galactokinase
    IPB006203 GHMP kinase
    IPB013750 GHMP kinase


    UniProtKB/Swiss-Prot: GALK1_HUMAN, P51570
    Similarity: Belongs to the GHMP kinase family. GalK subfamily


    GALK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GALK1_HUMAN, P51570
    Function: Major enzyme for galactose metabolism
    Catalytic activity: ATP + alpha-D-galactose = ADP + alpha-D-galactose 1-phosphate

         Genatlas biochemistry entry for GALK1:
    galactokinase 1

         Enzyme Number (IUBMB): EC 2.7.1.61 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004335galactokinase activity IDA12694189
    GO:0005515protein binding ----
    GO:0005524ATP binding IDA12694189
    GO:0005534galactose binding IDA14596685
         
    GALK1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GALK1:
     Decreased Salmonella enterica   Increased cell death HMECs cel 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Galk1):
     homeostasis/metabolism  vision/eye 

    GALK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Galk1tm1Stb for GALK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GALK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GALK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GALK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GALK1:
    hsa-mir-615-3p (MIRT040306), hsa-mir-1225-5p (MIRT036546), hsa-mir-26b-5p (MIRT029752)

    Block miRNA regulation of human, mouse, rat GALK1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GALK1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GALK1
    Predesigned siRNA for gene silencing in human, mouse, rat GALK1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GALK1

    Clone
    Products:
         
    OriGene clones in human, mouse for GALK1 (see all 7)
    OriGene ORF clones in mouse, rat for GALK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GALK1 (NM_000154)
    Sino Biological Human cDNA Clone for GALK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALK1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GALK1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GALK1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    golgi apparatus2
    nucleus2
    chloroplast1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA8908517
    GO:0005829cytosol TAS--
    GO:0016020NOT membrane IDA8908517
    GO:0070062extracellular vesicular exosome IDA19056867

    GALK1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for GALK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Galactose metabolism
    Galactose metabolism0.44
    galactose degradation I (Leloir pathway)0.00
    Galactose metabolism0.44
    Galactose catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    colanic acid building blocks biosynthesis0.00
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GALK1
        Galactose metabolism

    2 BioSystems Pathways for GALK1
        galactose degradation I (Leloir pathway)
    colanic acid building blocks biosynthesis


    1 Reactome Pathway for GALK1
        Galactose catabolism


    3 Kegg Pathways  (Kegg details for GALK1):
        Galactose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GALK1_HUMAN, P51570
    Pathway: Carbohydrate metabolism; galactose metabolism


    GALK1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GALK1
    Interactions:

        Search GeneGlobe Interaction Network for GALK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GALK1 (P515702, 3 ENSP000002256144) via UniProtKB, MINT, STRING, and/or I2D (see all 72)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    OTUD4Q018043, ENSP000004092794I2D: score=2 STRING: ENSP00000409279
    AGO4Q9HCK53, ENSP000003623064I2D: score=2 STRING: ENSP00000362306
    ATG10Q9H0Y03I2D: score=1 
    ATG2AQ2TAZ03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006012galactose metabolic process IMP15024738
    GO:0019388galactose catabolic process TAS--
    GO:0019402galactitol metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--

    GALK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GALK1

    4 HMDB Compounds for GALK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    Galactose 1-phosphate1-(dihydrogen phosphate) Galactitol (see all 14)2255-14-3--

    2 DrugBank Compounds for GALK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target----

    Selected Novoseek inferred chemical compound relationships for GALK1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactose-1-phosphate 92.2 57 19433218 (2), 18428423 (2), 18490662 (2), 12350230 (2) (see all 28)
    galactose 88.4 121 15003454 (5), 2124547 (3), 15466549 (3), 9864334 (3) (see all 55)
    phosphomevalonate 82.9 4 15169949 (1), 11188689 (1), 19509290 (1), 19509296 (1)
    udpglucose 76.9 19 2122118 (1), 10365579 (1), 11279193 (1), 18428423 (1) (see all 9)
    ptsh 75.4 4 9864334 (2)
    gal 1 75.4 7 7764565 (1), 1438294 (1), 16797763 (1), 12420143 (1) (see all 5)
    homoserine 70.3 3 15169949 (1), 19509290 (1), 19509296 (1)
    mannitol 63.8 20 12570032 (2), 15649629 (1), 2122117 (1), 2122118 (1) (see all 9)
    uridine diphosphate 61.4 3 16858969 (1), 2122117 (1)
    lactose 55.5 13 15466549 (3), 9864334 (2), 9061562 (1), 11489868 (1) (see all 8)



    GALK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GALK1 gene: 
    NM_000154.1  

    Unigene Cluster for GALK1:

    Galactokinase 1
    Hs.407966  [show with all ESTs]
    Unigene Representative Sequence: AK303832
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225614(uc002jpk.3 uc010wsj.1) ENST00000589643 ENST00000592997
    ENST00000588479 ENST00000586733 ENST00000587707 ENST00000592494 ENST00000586244
    ENST00000589030 ENST00000437911
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GALK1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GALK1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GALK1
    Predesigned siRNA for gene silencing in human, mouse, rat GALK1
    Clone
    Products:
         
    OriGene clones in human, mouse for GALK1 (see all 7)
    OriGene ORF clones in mouse, rat for GALK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GALK1 (NM_000154)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALK1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GALK1
    OriGene qSTAR qPCR primer pairs in human, mouse for GALK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALK1
      QuantiTect SYBR Green Assays in human, mouse, rat GALK1
      QuantiFast Probe-based Assays in human, mouse, rat GALK1

    Additional mRNA sequence: 

    AK130064.1 AK303748.1 AK303832.1 AK310203.1 AK314890.1 AK316181.1 BC001166.1 BT007005.1 
    U26401.1 

    5 DOTS entries:

    DT.415397  DT.80100027  DT.92425671  DT.120957479  DT.92425672 

    Selected AceView cDNA sequences (see all 169):

    BQ574308 BM715460 CD515161 AI937138 AI494325 NM_000154 BI768566 AI359997 
    BM836471 BM463363 AI383262 AI130011 AI401417 BM921285 AI356115 CA431261 
    AI302779 BE502775 AI992291 CB120360 BE676775 AI332583 BP338266 AI359962 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GALK1 (see all 7)    About this scheme

    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:                                -                                                                                                   


    ECgene alternative splicing isoforms for GALK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    GALK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCACATCC
    GALK1 Expression
    About this image


    GALK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Thymus (Hematopoietic System)
             Thymus
    GALK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GALK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.407966
        Custom PCR Arrays for GALK1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GALK1
    OriGene qSTAR qPCR primer pairs in human, mouse for GALK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALK1
    QuantiTect SYBR Green Assays in human, mouse, rat GALK1
    QuantiFast Probe-based Assays in human, mouse, rat GALK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GALK1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Galk11 , 5 galactokinase 11, 5 85.54(n)1
    88.01(a)1
      11 (80.91 cM)5
    146351  NM_016905.21  NP_058601.21 
     1160084575 
    chicken
    (Gallus gallus)
    Aves GALK11 galactokinase 1 69.22(n)
    68.37(a)
      417373  XM_415629.4  XP_415629.3 
    lizard
    (Anolis carolinensis)
    Reptilia GALK16
    galactokinase 1
    62(a)
    1 ↔ 1
    2(113696596-113706981)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.163502 Transcribed sequence with weak similarity to protein more 74.72(n)    AL880441.2 
    zebrafish
    (Danio rerio)
    Actinopterygii galk11 galactokinase 1 61.65(n)
    64.42(a)
      449829  NM_001006002.1  NP_001006002.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0029141 AgaP_AGAP002914 58.6(n)
    54.3(a)
      1273050  XM_003436259.1  XP_003436307.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAL16
    GAL36
    Galactokinase, phosphorylates alpha-D-galactose to...
    Transcriptional regulator involved in activation o...
    21(a)
    21(a)
    many ↔ many
    many ↔ many
    II(279021-280607) YBR020W
    IV(463434-464996) YDR009W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GalAK1 GalAK 39.75(n)
    30.31(a)
      820239  NM_111906.3  NP_187681.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g06081001 Os04g0608100 40.54(n)
    30.47(a)
      4336928  NM_001060346.1  NP_001053811.1 


    ENSEMBL Gene Tree for GALK1 (if available)
    TreeFam Gene Tree for GALK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GALK1 gene
    GALK22  
    2 SIMAP similar genes for GALK1 using alignment to 7 protein entries:     GALK1_HUMAN (see all proteins):
    GALK    GALK2

    GALK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GALK1 (see all 238)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs800847211,2,,4
    CGalactosemia II (GALCT2)4 pathogenic174842791(+) GCAGCG/ACGTGG 2 /A /V mis11Minor allele frequency- A:0.00EU 963
    VAR_0234924
    Galactosemia II (GALCT2)4--see VAR_0234922 T M mis40--------
    VAR_0234874
    Galactosemia II (GALCT2)4--see VAR_0234872 H Y mis40--------
    VAR_0234864
    Galactosemia II (GALCT2)4--see VAR_0234862 G R mis40--------
    VAR_0234904
    Galactosemia II (GALCT2)4--see VAR_0234902 R Q mis40--------
    VAR_0234884
    Galactosemia II (GALCT2)4--see VAR_0234882 R C mis40--------
    VAR_0234964
    Galactosemia II (GALCT2)4--see VAR_0234962 A P mis40--------
    VAR_0234954
    Galactosemia II (GALCT2)4--see VAR_0234952 G S mis40--------
    VAR_0025474
    Galactosemia II (GALCT2)4--see VAR_0025472 V M mis40--------
    VAR_0234944
    Galactosemia II (GALCT2)4--see VAR_0234942 G S mis40--------

    HapMap Linkage Disequilibrium report for GALK1 (73747675 - 73761792 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GALK1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908804CNV Loss21882294
    nsv516133CNV Loss19592680
    dgv3268n71CNV Loss21882294
    dgv3269n71CNV Loss21882294
    dgv3267n71CNV Loss21882294
    nsv470606CNV Loss18288195
    nsv908812CNV Loss21882294
    nsv908819CNV Loss21882294
    nsv833544CNV Loss17160897
    dgv3264n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): GALK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GALK1
    DNA2.0 Custom Variant and Variant Library Synthesis for GALK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 604313   
    OMIM disorders: 230200  
    UniProtKB/Swiss-Prot: GALK1_HUMAN, P51570
  • 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for GALK1 (see all 24):    
    About MalaCards
    galactokinase deficiency with cataracts    galactokinase deficiency    cataracts, autosomal recessive    mevalonic aciduria
    epimerase deficiency galactosemia    galactosemia    citrin deficiency    burkitt's lymphoma
    senile cataract    cataract    labyrinthitis    neurofibromatosis
    hepatoblastoma    down syndrome    pneumonia    liver disease
    tuberculosis    ovarian cancer    colorectal cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for GALK1:
    Galactosemia

    GALK1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GALK1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    galactokinase deficiency 98.9 83 11978883 (5), 12705493 (5), 17517531 (4), 10570908 (4) (see all 28)
    galactosemias 94.1 30 12694189 (2), 11405207 (2), 15590630 (2), 16858969 (1) (see all 20)
    classical galactosemia 91.3 4 11978883 (1), 11405207 (1), 11279193 (1), 14596685 (1)
    galactosuria 86.7 1 12350230 (1)
    gale deficiency 86.1 1 11001796 (1)
    cataract 67.1 37 7670469 (3), 11231902 (2), 11978884 (2), 11978883 (2) (see all 22)
    lowe syndrome 62.2 3 2122117 (2)
    congenital cataract 56.9 4 20405025 (2), 7670469 (1), 8717055 (1)
    enzyme deficiency 49.1 2 10365579 (1), 10750502 (1)
    metabolic disorder 42.4 3 2122117 (1), 12570032 (1), 19951499 (1)

    Genatlas disease: GALK1
    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

    Genetic Association Database (GAD): GALK1
    Human Genome Epidemiology (HuGE) Navigator: GALK1 (7 documents)

    Export disorders for GALK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for GALK1 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with GALK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians. (PubMed id 11231902)1, 2, 4, 9 Okano Y....Yamano T. (Am. J. Hum. Genet. 2001)
    2. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. (PubMed id 7670469)1, 2, 3, 9 Stambolian D....Bergsma D.J. (Nat. Genet. 1995)
    3. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. (PubMed id 12942049)1, 2, 4, 9 Maraini G.... Reed G. (Mol. Vis. 2003)
    4. A novel c.-22T&gt;C mutation in GALK1 promoter is associated with elevated galactokinase phenotype. (PubMed id 19309526)1, 4, 9 Park H.D....Song J. (BMC Med. Genet. 2009)
    5. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. (PubMed id 15024738)1, 2, 9 Sangiuolo F.... Novelli G. (Hum. Mutat. 2004)
    6. Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. (PubMed id 7542884)1, 2, 9 Ai Y.... Stambolian D. (Biochem. Biophys. Res. Commun. 1995)
    7. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). (PubMed id 10521295)1, 2, 9 Kalaydjieva L....Gitzelmann R. (Am. J. Hum. Genet. 1999)
    8. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. (PubMed id 11139256)1, 2, 9 Hunter M.... Kalaydjieva L. (Hum. Mutat. 2001)
    9. Functional analysis of disease-causing mutations in human galactokinase. (PubMed id 12694189)1, 2, 9 Timson D.J. and Reece R.J. (Eur. J. Biochem. 2003)
    10. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. (PubMed id 11978884)1, 4, 9 Hunter M....Kalaydjieva L.V. (Pediatr. Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 2584 HGNC: 4118 AceView: GALK1 Ensembl:ENSG00000108479 euGenes: HUgn2584
    ECgene: GALK1 Kegg: 2584 H-InvDB: GALK1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GALK1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GALK1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GALK1 gene:
    Search GeneIP for patents involving GALK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GALK1   OriGene RNAi products in human, mouse, rat for GALK1  
     OriGene qPCR primer pairs and template standards for GALK1   OriGene Protein Over-expression Lysate for GALK1  
     OriGene MassSpec something-or-other for GALK1   OriGene clones in human, mouse for GALK1  
     OriGene qSTAR qPCR primer pairs in human, mouse for GALK1   OriGene Purified Protein for GALK1  
     OriGene ORF clones in mouse, rat for GALK1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GALK1   OriGene Custom Protein Services for GALK1  

     
     
     Block miRNA regulation of human, mouse, rat GALK1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GALK1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GALK1 Predesigned siRNA for gene silencing in human, mouse, rat GALK1
     QuantiFast Probe-based Assays in human, mouse, rat GALK1 QuantiTect SYBR Green Assays in human, mouse, rat GALK1
     Custom PCR Arrays for GALK1 Search Chromatin IP Primers for GALK1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GALK1  Search GeneGlobe Interaction Network for GALK1
     Regulatory tfbs in GALK1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GALK1 GenScript cDNA clones with any tag delivered in your preferred vector for GALK1
     GenScript Custom Assay Services for GALK1 GenScript Custom overexpressing Cell Line Services for GALK1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GALK1
     Proteins for GALK1
     Cell Lysates for GALK1
     cDNA Clones for GALK1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GALK1 antibodies
     GALK1 proteins
     GALK1 lysates
     Antibodies for GALK1
     See all of Abcam's Antibodies, Kits and Proteins for GALK1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for GALK1
     Proteins for GALK1
     Antibodies for GALK1
     ELISAs for GALK1
     CLIAs for GALK1



     Browse ESI BIO Cell Lines and PureStem Progenitors for GALK1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALK1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for GALK1
     SwitchGear Promoter luciferase reporter plasmids for GALK1
     ThermoFisher Antibodies for GALK1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALK1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GALK1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GALK1
     LSBio Antibodies in human, mouse, rat for GALK1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GALK1 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4