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    GALK1 galactokinase 1 [ Homo sapiens (human) ]

    Gene ID: 2584, updated on 8-Jul-2021

    Summary

    Official Symbol
    GALK1provided by HGNC
    Official Full Name
    galactokinase 1provided by HGNC
    Primary source
    HGNC:HGNC:4118
    See related
    Ensembl:ENSG00000108479 MIM:604313
    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; HEL-S-19
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 15.6), liver (RPKM 14.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See GALK1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75751469..75765192, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73747550..73761273, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SAP30 binding protein Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene integrin subunit beta 4 Neighboring gene H3.3 histone B Neighboring gene microRNA 4738

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables galactokinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables galactokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables galactokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables galactokinase activity TAS
    Traceable Author Statement
    more info
     
    enables galactose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in galactitol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in galactose catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in galactose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in galactose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycolytic process from galactose IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    NOT located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    galactokinase
    Names
    epididymis secretory protein Li 19
    galactose kinase
    NP_000145.1
    NP_001368914.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008079.2 RefSeqGene

      Range
      5008..12306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1430

    mRNA and Protein(s)

    1. NM_000154.2NP_000145.1  galactokinase

      See identical proteins and their annotated locations for NP_000145.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087749
      Consensus CDS
      CCDS11728.1
      UniProtKB/Swiss-Prot
      P51570
      UniProtKB/TrEMBL
      V9HWE7
      Related
      ENSP00000465930.1, ENST00000588479.6
      Conserved Domains (1) summary
      COG0153
      Location:11390
      GalK; Galactokinase [Carbohydrate transport and metabolism]
    2. NM_001381985.1NP_001368914.1  galactokinase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087749, AK303832
      Related
      ENSP00000225614.1, ENST00000225614.6
      Conserved Domains (1) summary
      COG0153
      Location:11390
      GalK; Galactokinase [Carbohydrate transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      75751469..75765192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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