Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    GALK1 galactokinase 1 [ Homo sapiens (human) ]

    Gene ID: 2584, updated on 22-May-2013
    Official Symbol
    GALK1provided by HGNC
    Official Full Name
    galactokinase 1provided by HGNC
    Primary source
    HGNC:4118
    See related
    Ensembl:ENSG00000108479; HPRD:05057; MIM:604313; Vega:OTTHUMG00000179832
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GK1; GALK
    Summary
    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]
    Location :
    17q24
    Sequence :
    Chromosome: 17; NC_000017.10 (73754018..73761280, complement)
    See GALK1 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene SAP30 binding protein Neighboring gene integrin, beta 4 Neighboring gene H3 histone, family 3B (H3.3B) Neighboring gene microRNA 4738

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    2. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. Aichem A, et al. J Cell Sci, 2012 Oct 1. PMID 22797925.
    3. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Singh R, et al. Curr Eye Res, 2012 Oct. PMID 22632133.
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (37) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population.
      Title: Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
    2. A possible mechanism for the unfolding caused by the Pro(28)Thr point mutation of human galactokinase.
      Title: The effect of a Pro²⁸Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families, are reported.
      Title: Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
    5. These results suggest that the elevated GALK1 activity resulted from enhanced gene expression, due to nucleotide variation within GALK1 promoter
      Title: A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Observational study of genotype prevalence. (HuGE Navigator)
      Title: The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
    8. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
      Title: A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
    9. Mutations in GALK1 resulted in reduction of GALK activity and caused GALK deficiency.
      Title: Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
    10. In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles.
      Title: Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
    Submit: New GeneRIF Correction See all (18)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:108857 BioGRID:128178 AGO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108857 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:108102 DMWD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:108223 ECT2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:120112 OTUD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108857 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    galactokinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    galactose binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    galactose catabolic process TAS
    Traceable Author Statement
    more info
    		  
    galactose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    NOT membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    galactokinase
    Names
    galactokinase
    galactose kinase
    NP_000145.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008079.1 RefSeqGene

      Range
      5001..12263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000154.1 → NP_000145.1  galactokinase

      Status: REVIEWED

      Source sequence(s)
      L76927
      Consensus CDS
      CCDS11728.1
      UniProtKB/Swiss-Prot
      P51570
      Related
      ENSP00000406305, ENST00000437911
      Conserved Domains (3) summary
      PRK05101
      Location:28 – 390
      Blast Score: 816
      PRK05101; galactokinase; Provisional
      pfam08544
      Location:298 – 372
      Blast Score: 128
      GHMP_kinases_C; GHMP kinases C terminal
      pfam10509
      Location:28 – 68
      Blast Score: 200
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      73754018..73761280, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      69178882..69186794, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      74837694..74844958, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01028771.1 (33407..38756) None
    genomic ABBA01028772.1 None
    genomic AC087749.12 (202424..209686) None
    genomic AF084935.1 AAC35849.1
    genomic AMYH01008635.1 (294454..301718) None
    genomic CH471099.1 EAW89316.1
    genomic L76927.1 AAB51607.1
    mRNA AK130064.1 BAC85288.1
    mRNA AK303748.1 BAG64720.1
    mRNA AK303832.1 BAG64778.1
    mRNA AK310203.1 None
    mRNA AK314890.1 BAG37404.1
    mRNA AK316181.1 BAH14552.1
    mRNA BC001166.1 AAH01166.1
    mRNA BT007005.1 AAP35651.1
    mRNA U26401.1 AAA96147.1
    other-genetic EU176182.1 ABW03633.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51570.1 GenPept UniProtKB/Swiss-Prot:P51570

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...