GALK1 (galactokinase 1)

2014-11-01 Affiliation

Identity

HGNC

GALK1

LOCATION

17q25.1

LOCUSID

2584

ALIAS

GALK,GK1,HEL-S-19

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2584
MIM: 604313
HGNC: 4118
Ensembl: ENSG00000108479

Variants:

dbSNP: 2584
ClinVar: 2584
TCGA: ENSG00000108479
COSMIC: GALK1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108479	ENST00000225614	P51570
ENSG00000108479	ENST00000225614	V9HWE7
ENSG00000108479	ENST00000586244	K7ERJ9
ENSG00000108479	ENST00000587707	K7ERN9
ENSG00000108479	ENST00000588479	P51570
ENSG00000108479	ENST00000588479	V9HWE7
ENSG00000108479	ENST00000592997	K7EII7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Galactose metabolism	KEGG	ko00052
Amino sugar and nucleotide sugar metabolism	KEGG	ko00520
Galactose metabolism	KEGG	hsa00052
Amino sugar and nucleotide sugar metabolism	KEGG	hsa00520
Metabolic pathways	KEGG	hsa01100
Nucleotide sugar biosynthesis, galactose => UDP-galactose	KEGG	hsa_M00554
Nucleotide sugar biosynthesis, galactose => UDP-galactose	KEGG	M00554
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1P	KEGG	hsa_M00632
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1P	KEGG	M00632
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Galactose catabolism	REACTOME	R-HSA-70370

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
15590630	2005	Molecular structure of human galactokinase: implications for type II galactosemia.	24
15590630	2005	Molecular structure of human galactokinase: implications for type II galactosemia.	24
15003454	2004	Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.	14
15526155	2004	Galactokinase: structure, function and role in type II galactosemia.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
12942049	2003	Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.	10
12942049	2003	Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.	10
20405025	2010	Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.	10
12694189	2003	Functional analysis of disease-causing mutations in human galactokinase.	9

Citation

Dessen P

GALK1 (galactokinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63679/galk1