Human Gene GALK1 (ENST00000588479.6_7) from GENCODE V47lift37
Description: galactokinase 1, transcript variant 1 (from RefSeq NM_000154.2)Gencode Transcript: ENST00000588479.6_7Gencode Gene: ENSG00000108479.13_11Transcript (Including UTRs) Position: hg19 chr17:73,753,975-73,761,273 Size: 7,299 Total Exon Count: 8 Strand: -Coding Region Position: hg19 chr17:73,754,137-73,761,217 Size: 7,081 Coding Exon Count: 8
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: GALK1
Diseases sorted by gene-association score: galactokinase deficiency with cataracts * (1693), galactosemia * (325), galactose epimerase deficiency (15), epimerase deficiency galactosemia (13), mevalonic aciduria (9), retinitis pigmentosa 17 (7), carbohydrate metabolic disorder (6), lowe syndrome (6), glycogen storage disease ia (5), cataract 9, multiple types (4)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK303832 - Homo sapiens cDNA FLJ56840 complete cds, highly similar to Galactokinase (EC 2.7.1.6).EU794610 - Homo sapiens epididymis secretory protein Li 19 (HEL-S-19) mRNA, complete cds.U26401 - Human galactokinase (galK) mRNA, complete cds.BC001166 - Homo sapiens galactokinase 1, mRNA (cDNA clone MGC:1746 IMAGE:3501788), complete cds.AK130064 - Homo sapiens cDNA FLJ26554 fis, clone LNF01773, highly similar to Galactokinase (EC 2.7.1.6).AK314890 - Homo sapiens cDNA, FLJ95792, Homo sapiens galactokinase 1 (GALK1), mRNA.KJ896856 - Synthetic construct Homo sapiens clone ccsbBroadEn_06250 GALK1 gene, encodes complete protein.KJ905199 - Synthetic construct Homo sapiens clone ccsbBroadEn_14651 GALK1 gene, encodes complete protein.BT007005 - Homo sapiens galactokinase 1 mRNA, complete cds.AK316181 - Homo sapiens cDNA, FLJ79080 complete cds, highly similar to Galactokinase (EC 2.7.1.6).CU674592 - Synthetic construct Homo sapiens gateway clone IMAGE:100018204 5' read GALK1 mRNA.AK310203 - Homo sapiens cDNA, FLJ17245.AK303748 - Homo sapiens cDNA FLJ56765 complete cds, highly similar to Galactokinase (EC 2.7.1.6).JD444461 - Sequence 425485 from Patent EP1572962.JD461582 - Sequence 442606 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY66-422 - D-galactose degradation V (Leloir pathway)BioCarta from NCI Cancer Genome Anatomy Project h_g1pPathway - Leloir pathway of galactose metabolism
Other Names for This Gene
Alternate Gene Symbols: ENST00000588479.1, ENST00000588479.2, ENST00000588479.3, ENST00000588479.4, ENST00000588479.5, HEL-S-19 , NM_000154, uc326spi.1, uc326spi.2, V9HWE7, V9HWE7_HUMANUCSC ID: ENST00000588479.6_7RefSeq Accession: NM_000154.2
Gene Model Information
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Methods, Credits, and Use Restrictions
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US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 