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    GALK2 galactokinase 2 [ Homo sapiens (human) ]

    Gene ID: 2585, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GALK2provided by HGNC
    Official Full Name
    galactokinase 2provided by HGNC
    Primary source
    HGNC:HGNC:4119
    See related
    Ensembl:ENSG00000156958 MIM:137028; AllianceGenome:HGNC:4119
    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
    GK2
    Summary
    This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
    Expression
    Ubiquitous expression in kidney (RPKM 4.3), duodenum (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GALK2 in Genome Data Viewer
    Location:
    15q21.1-q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49155774..49367740)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (46963986..47175984)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49447971..49624079)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903489 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49447830-49448748 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49461856-49462760 Neighboring gene COP9 signalosome subunit 2 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6422 Neighboring gene microRNA 4716 Neighboring gene RPL15 pseudogene 19 Neighboring gene MPRA-validated peak2332 silencer Neighboring gene RNA, 7SL, cytoplasmic 307, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49524445-49525115 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49523773-49524444 Neighboring gene Sharpr-MPRA regulatory region 5673 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49557847-49559046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49646702-49647347 Neighboring gene family with sequence similarity 227 member B Neighboring gene signal peptide peptidase like 2A pseudogene Neighboring gene OCT4 hESC enhancer GRCh37_chr15:49664491-49665044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49671731-49672256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:49672257-49672781 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:49688382-49688895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9387 Neighboring gene fibroblast growth factor 7 Neighboring gene uncharacterized LOC105370811

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Kidney N-acetylgalactosamine (GalNAc)-1-phosphate kinase, a new pathway of GalNAc activation. Pastuszak I, et al. J Biol Chem, 1996 Aug 23. PMID 8702831
    2. Identification of the GalNAc kinase amino acid sequence. Pastuszak I, et al. J Biol Chem, 1996 Sep 27. PMID 8798585
    3. The molecular architecture of human N-acetylgalactosamine kinase. Thoden JB, et al. J Biol Chem, 2005 Sep 23. PMID 16006554
    4. Mechanistic studies on human N-acetylgalactosamine kinase. Agnew A, et al. J Enzyme Inhib Med Chem, 2010 Jun. PMID 19874134
    5. Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. Lee RT, et al. Proc Natl Acad Sci U S A, 1992 Nov 15. PMID 1438294, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GALK2 has an ordered ternary complex mechanism in which ATP is the first substrate to bind
      Title: Mechanistic studies on human N-acetylgalactosamine kinase.
    2. Kinetic studies suggest an ordered ternary complex mechanism in which ATP is the first substrate to bind.
      Title: Mechanistic studies on human N-acetylgalactosamine kinase.
    3. geometry and substrate specificity of the GalNAc kinase active site before and after catalysis
      Title: The molecular architecture of human N-acetylgalactosamine kinase.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1745

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables N-acetylgalactosamine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables galactokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables galactokinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in galactose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylgalactosamine kinase
    Names
    galNAc kinase
    NP_001001556.1
    NP_001275959.1
    NP_001275960.1
    NP_001338976.1
    NP_001338977.1
    NP_002035.1
    XP_006720524.1
    XP_024305660.1
    XP_024305662.1
    XP_047288303.1
    XP_047288304.1
    XP_047288305.1
    XP_047288306.1
    XP_047288307.1
    XP_047288308.1
    XP_047288309.1
    XP_047288310.1
    XP_054233652.1
    XP_054233653.1
    XP_054233654.1
    XP_054233655.1
    XP_054233656.1
    XP_054233657.1
    XP_054233658.1
    XP_054233659.1
    XP_054233660.1
    XP_054233661.1
    XP_054233662.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001001556.3 → NP_001001556.1  N-acetylgalactosamine kinase isoform 2

      See identical proteins and their annotated locations for NP_001001556.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The encoded isoform (2) has a shorter and alternate N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC022306, AF461816, AL832745, BX096260, BX455251, CA841825, DC390737
      Consensus CDS
      CCDS32236.1
      UniProtKB/TrEMBL
      B4DW43
      Related
      ENSP00000316632.3, ENST00000327171.7
      Conserved Domains (3) summary
      PLN02521
      Location:7 → 444
      PLN02521; galactokinase
      pfam08544
      Location:339 → 419
      GHMP_kinases_C; GHMP kinases C terminal
      pfam10509
      Location:13 → 62
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    2. NM_001289030.2 → NP_001275959.1  N-acetylgalactosamine kinase isoform 3

      See identical proteins and their annotated locations for NP_001275959.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon and uses a downstream translation start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
      Source sequence(s)
      AC022306, AK316440, DB457948, EB386877
      Consensus CDS
      CCDS73724.1
      UniProtKB/TrEMBL
      B4DW43, B7ZAX5
      Related
      ENSP00000440312.1, ENST00000544523.5
      Conserved Domains (3) summary
      PLN02521
      Location:2 → 431
      PLN02521; galactokinase
      pfam08544
      Location:326 → 406
      GHMP_kinases_C; GHMP kinases C terminal
      pfam10509
      Location:2 → 49
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    3. NM_001289031.1 → NP_001275960.1  N-acetylgalactosamine kinase isoform 3

      See identical proteins and their annotated locations for NP_001275960.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, and uses a downstream translation start codon, compared to variant 1. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
      Source sequence(s)
      AC022306, AK301361, BQ921903, DB457948, DC298656
      Consensus CDS
      CCDS73724.1
      UniProtKB/TrEMBL
      B4DW43, B7ZAX5
      Related
      ENSP00000379766.2, ENST00000396509.6
      Conserved Domains (3) summary
      PLN02521
      Location:2 → 431
      PLN02521; galactokinase
      pfam08544
      Location:326 → 406
      GHMP_kinases_C; GHMP kinases C terminal
      pfam10509
      Location:2 → 49
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    4. NM_001352047.1 → NP_001338976.1  N-acetylgalactosamine kinase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC013452, AC022306
      Conserved Domains (1) summary
      cl26519
      Location:1 → 319
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    5. NM_001352048.2 → NP_001338977.1  N-acetylgalactosamine kinase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC013452, AC022306
      Conserved Domains (1) summary
      cl26519
      Location:1 → 319
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    6. NM_002044.4 → NP_002035.1  N-acetylgalactosamine kinase isoform 1

      See identical proteins and their annotated locations for NP_002035.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC022306, AL832745, BC005141, BX096260, BX455251, CA841825, DB457948
      Consensus CDS
      CCDS42034.1
      UniProtKB/Swiss-Prot
      Q01415, Q7Z4Q4
      UniProtKB/TrEMBL
      B4DW43
      Related
      ENSP00000453129.1, ENST00000560031.6
      Conserved Domains (1) summary
      cl26519
      Location:18 → 455
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    RNA

    1. NR_147895.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013452, AC022306

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      49155774..49367740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432349.1 → XP_047288305.1  N-acetylgalactosamine kinase isoform X3

    2. XM_047432347.1 → XP_047288303.1  N-acetylgalactosamine kinase isoform X1

    3. XM_024449892.2 → XP_024305660.1  N-acetylgalactosamine kinase isoform X4

      UniProtKB/TrEMBL
      B4DW43
      Conserved Domains (1) summary
      cl26519
      Location:2 → 427
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    4. XM_024449894.2 → XP_024305662.1  N-acetylgalactosamine kinase isoform X6

      UniProtKB/TrEMBL
      B4DW43
      Conserved Domains (1) summary
      cl26519
      Location:2 → 394
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    5. XM_047432353.1 → XP_047288309.1  N-acetylgalactosamine kinase isoform X8

    6. XM_047432350.1 → XP_047288306.1  N-acetylgalactosamine kinase isoform X5

    7. XM_047432354.1 → XP_047288310.1  N-acetylgalactosamine kinase isoform X9

    8. XM_006720461.5 → XP_006720524.1  N-acetylgalactosamine kinase isoform X2

      UniProtKB/TrEMBL
      B4DW43
      Conserved Domains (3) summary
      PLN02521
      Location:18 → 448
      PLN02521; galactokinase
      pfam08544
      Location:350 → 430
      GHMP_kinases_C; GHMP kinases C terminal
      pfam10509
      Location:24 → 73
      GalKase_gal_bdg; Galactokinase galactose-binding signature

    9. XM_047432348.1 → XP_047288304.1  N-acetylgalactosamine kinase isoform X1

    10. XM_047432351.1 → XP_047288307.1  N-acetylgalactosamine kinase isoform X7

    11. XM_047432352.1 → XP_047288308.1  N-acetylgalactosamine kinase isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      46963986..47175984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377680.1 → XP_054233655.1  N-acetylgalactosamine kinase isoform X3

    2. XM_054377677.1 → XP_054233652.1  N-acetylgalactosamine kinase isoform X1

    3. XM_054377681.1 → XP_054233656.1  N-acetylgalactosamine kinase isoform X4

    4. XM_054377683.1 → XP_054233658.1  N-acetylgalactosamine kinase isoform X6

    5. XM_054377686.1 → XP_054233661.1  N-acetylgalactosamine kinase isoform X8

    6. XM_054377682.1 → XP_054233657.1  N-acetylgalactosamine kinase isoform X5

    7. XM_054377687.1 → XP_054233662.1  N-acetylgalactosamine kinase isoform X9

    8. XM_054377679.1 → XP_054233654.1  N-acetylgalactosamine kinase isoform X2

    9. XM_054377678.1 → XP_054233653.1  N-acetylgalactosamine kinase isoform X1

    10. XM_054377684.1 → XP_054233659.1  N-acetylgalactosamine kinase isoform X7

    11. XM_054377685.1 → XP_054233660.1  N-acetylgalactosamine kinase isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01415.1 GenPept UniProtKB/Swiss-Prot:Q01415

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