GALK1 galactokinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GALK1provided by HGNC
Official Full Name: galactokinase 1provided by HGNC
Primary source: HGNC:HGNC:4118
See related: Ensembl:ENSG00000108479 MIM:604313; AllianceGenome:HGNC:4118
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75751469..75765192, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76644690..76658416, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73747550..73761273, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa.
Title: Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa.
Galactokinase deficiency: lessons from the GalNet registry.
Title: Galactokinase deficiency: lessons from the GalNet registry.
Molecular docking analysis revealed a decrease in interaction between the protein and ATP in all the 3 mutations (P28T, A198V, and L139P), and molecular dynamic simulations of 50 ns showed a loss of stability and compactness in the mutant proteins. Also P28T and A198V were predicted to alter the structure and function of GALK protein when compared to the mutant L139P.
Title: Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.
Some of the single consensus variants (M60V, D268E, A334S and G373S) increased the catalytic turnover of the enzyme, but none resulted in improved stability. When all six changes were introduced into the protein (M60V/M180V/D268E/A334S/R366Q/G373S), thermal stability was increased.
Title: Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications.
Focussing on four residues (Leu-231, Gln-242, Glu-244 and Glu-245) this study conducted molecular dynamics simulations to explore the effects of changing these residues to glycine or serine. The four serine variants were expressed as recombinant proteins. All had altered steady state enzyme kinetic parameters with alpha-d-galactose as a substrate.
Title: Modulation of the mobility of a key region in human galactokinase: Impacts on catalysis and stability.
Mutation in the GALK gene is associated with mental disorders in galactosemia.
Title: Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
The GALK1 gene was included in this interval and direct sequencing.
Title: Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
Data indicate taht the interactions between galactokinase (GALK) and its potential inhibitors by molecular dynamics simulations.
Title: Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Deficiency of galactokinase MedGen: C0268155 OMIM: 230200 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH18101 (e-PCR)
- UniSTS:33806

RH47571 (e-PCR)
- UniSTS:80458

GDB:681741 (e-PCR)
- UniSTS:158631

GDB:681744 (e-PCR)
- UniSTS:158632

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
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 via UDP-galactose	TAS Traceable Author Statement more info
involved_in galactose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
NOT located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: galactokinase

Names: epididymis secretory protein Li 19; galactose kinase

NP_000145.1

EC 2.7.1.6

NP_001368914.1

EC 2.7.1.6

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_008079.2 RefSeqGene

Range

5008..12306

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1430

mRNA and Protein(s)

NM_000154.2 → NP_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

B2RC07, B4E1G6, P51570

UniProtKB/TrEMBL

K7EII7, V9HWE7

Related

ENSP00000465930.1, ENST00000588479.6

Conserved Domains (1) summary

COG0153
Location:11 → 390

GalK; Galactokinase [Carbohydrate transport and metabolism]
NM_001381985.1 → NP_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

Consensus CDS

CCDS11728.1

UniProtKB/Swiss-Prot

B2RC07, B4E1G6, P51570

UniProtKB/TrEMBL

K7EII7, V9HWE7

Related

ENSP00000225614.1, ENST00000225614.6

Conserved Domains (1) summary

COG0153
Location:11 → 390

GalK; Galactokinase [Carbohydrate transport and metabolism]