Human Gene GALK1 (ENST00000588479.6_7) from GENCODE V47lift37

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Description: galactokinase 1, transcript variant 1 (from RefSeq NM_000154.2)
Gencode Transcript: ENST00000588479.6_7
Gencode Gene: ENSG00000108479.13_11
Transcript (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

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Pathways
Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:73,753,975-73,761,273)			mRNA (may differ from genome)		Protein (392 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

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 D013749 Tetrachlorodibenzodioxin C006253 pirinixic acid D015056 1-Methyl-3-isobutylxanthine D000082 Acetaminophen D016604 Aflatoxin B1 D001564 Benzo(a)pyrene D002762 Cholecalciferol D002994 Clofibrate D003042 Cocaine D003300 Copper more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 24.58 RPKM in Liver Total median expression: 336.96 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-27.30	56	-0.487	Picture	PostScript	Text
3' UTR	-66.90	162	-0.413	Picture	PostScript	Text

The RNAfold program from the 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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

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_HUMAN UCSC ID: ENST00000588479.6_7 RefSeq Accession: NM_000154.2

Gene Model Information


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Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.