Details for: GALK1

Gene ID: 2584

Symbol: GALK1

Ensembl ID: ENSG00000108479

Description: galactokinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 102.6068
    Cell Significance Index: -15.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 42.5006
    Cell Significance Index: -10.7800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.4886
    Cell Significance Index: -15.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 35.3933
    Cell Significance Index: -16.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 33.4185
    Cell Significance Index: -17.1900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.3133
    Cell Significance Index: -15.5800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.0986
    Cell Significance Index: -16.1500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.7111
    Cell Significance Index: -14.4700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.5691
    Cell Significance Index: -12.2400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.1332
    Cell Significance Index: -16.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.5812
    Cell Significance Index: 184.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5584
    Cell Significance Index: 1407.1400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4954
    Cell Significance Index: 162.6600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.0333
    Cell Significance Index: 66.6700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.9483
    Cell Significance Index: 19.8500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.9462
    Cell Significance Index: 25.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7984
    Cell Significance Index: 158.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7838
    Cell Significance Index: 54.2100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.7672
    Cell Significance Index: 19.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7085
    Cell Significance Index: 18.9900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6964
    Cell Significance Index: 32.4700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6596
    Cell Significance Index: 14.2900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.6582
    Cell Significance Index: 4.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6360
    Cell Significance Index: 62.9100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6282
    Cell Significance Index: 18.4500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5795
    Cell Significance Index: 10.7100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.5268
    Cell Significance Index: 4.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4245
    Cell Significance Index: 58.3000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3919
    Cell Significance Index: 4.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3527
    Cell Significance Index: 10.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3191
    Cell Significance Index: 37.6300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2831
    Cell Significance Index: 3.6300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2806
    Cell Significance Index: 2.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2743
    Cell Significance Index: 149.8200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2398
    Cell Significance Index: 11.2700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2371
    Cell Significance Index: 45.1300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2208
    Cell Significance Index: 11.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1874
    Cell Significance Index: 24.2200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1807
    Cell Significance Index: 23.1600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1703
    Cell Significance Index: 7.7200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.1491
    Cell Significance Index: 3.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1362
    Cell Significance Index: 24.5500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1312
    Cell Significance Index: 58.0100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1228
    Cell Significance Index: 6.3800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1136
    Cell Significance Index: 1.5500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1000
    Cell Significance Index: 2.1300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0928
    Cell Significance Index: 6.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0639
    Cell Significance Index: 7.8600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0423
    Cell Significance Index: 0.4800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0414
    Cell Significance Index: 0.6200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0375
    Cell Significance Index: 0.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0227
    Cell Significance Index: 3.8800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0201
    Cell Significance Index: 4.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0194
    Cell Significance Index: 0.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0152
    Cell Significance Index: 10.5000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0144
    Cell Significance Index: 10.5600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0111
    Cell Significance Index: 0.3900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0057
    Cell Significance Index: 0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0025
    Cell Significance Index: -4.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0062
    Cell Significance Index: -0.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0064
    Cell Significance Index: -2.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0076
    Cell Significance Index: -5.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0085
    Cell Significance Index: -15.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0086
    Cell Significance Index: -0.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0115
    Cell Significance Index: -17.6700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0141
    Cell Significance Index: -19.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0150
    Cell Significance Index: -9.5200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0172
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0249
    Cell Significance Index: -2.8500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0259
    Cell Significance Index: -19.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0301
    Cell Significance Index: -16.9600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0305
    Cell Significance Index: -13.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0349
    Cell Significance Index: -1.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0357
    Cell Significance Index: -22.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0442
    Cell Significance Index: -12.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0444
    Cell Significance Index: -1.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0684
    Cell Significance Index: -4.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0761
    Cell Significance Index: -2.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0763
    Cell Significance Index: -11.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0947
    Cell Significance Index: -19.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1024
    Cell Significance Index: -8.1100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1047
    Cell Significance Index: -2.8500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1078
    Cell Significance Index: -3.7500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1440
    Cell Significance Index: -7.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1543
    Cell Significance Index: -16.0700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1579
    Cell Significance Index: -1.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1780
    Cell Significance Index: -4.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1850
    Cell Significance Index: -14.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1873
    Cell Significance Index: -11.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2249
    Cell Significance Index: -13.7900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2441
    Cell Significance Index: -10.0000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2518
    Cell Significance Index: -14.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2537
    Cell Significance Index: -17.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3622
    Cell Significance Index: -16.0200
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.3687
    Cell Significance Index: -7.6900
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.3690
    Cell Significance Index: -2.3100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3770
    Cell Significance Index: -13.8400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3848
    Cell Significance Index: -11.0300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3853
    Cell Significance Index: -11.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4112
    Cell Significance Index: -14.4100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** GALK1 is a cytosolic enzyme, meaning it is localized within the cytosol of cells. It is a member of the galactokinase family, which consists of enzymes that catalyze the phosphorylation of galactose. GALK1 is specifically expressed in various cell types, including germ cells, pancreatic acinar cells, myeloid leukocytes, and placental villous trophoblasts. Its expression is also observed in enterocytes and osteoclasts, highlighting its importance in different cellular contexts. **Pathways and Functions** GALK1 is involved in several metabolic pathways, including: 1. **Galactose Catabolism**: GALK1 catalyzes the conversion of galactose into galactose-1-phosphate, which is then further metabolized through the galactose catabolic pathway. 2. **Glycolytic Process from Galactose**: GALK1 enables the conversion of galactose into glucose-1-phosphate, which can be used for energy production or stored as glycogen. 3. **UDP-Galactose Metabolic Process**: GALK1 is involved in the conversion of UDP-galactose into UDP-galactitol, a key step in the galactitol metabolic pathway. **Clinical Significance** Dysfunction of GALK1 has been implicated in various diseases, including: 1. **Galactosemia**: A genetic disorder characterized by the inability to metabolize galactose, leading to its accumulation in the body. 2. **Galactose-1-Phosphate Uridyltransferase Deficiency**: A rare genetic disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for the conversion of galactose-1-phosphate to UDP-galactose. 3. **Glycosylation Disorders**: GALK1 dysfunction can lead to defects in glycosylation, a process essential for protein modification and cell signaling. In summary, GALK1 is a critical enzyme involved in the metabolism of galactose, and its dysfunction can have significant consequences for various cellular processes and human health. Further research is necessary to fully understand the role of GALK1 in metabolic disorders and to develop effective therapeutic strategies for the treatment of galactosemia and related diseases.

Genular Protein ID: 2315364751

Symbol: GALK1_HUMAN

Name: Galactose kinase

UniProtKB Accession Codes:

P51570 B2RC07 B4E1G6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 2 CTD 1 ChEBI 15 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 20 PIRSF 1 PRINTS 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7670469

Title: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.

PubMed ID: 7670469

DOI: 10.1038/ng0795-307

PubMed ID: 8908517

Title: Fine structure of the human galactokinase GALK1 gene.

PubMed ID: 8908517

DOI: 10.1101/gr.6.10.980

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7542884

Title: Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.

PubMed ID: 7542884

DOI: 10.1006/bbrc.1995.2023

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 15590630

Title: Molecular structure of human galactokinase: implications for type II galactosemia.

PubMed ID: 15590630

DOI: 10.1074/jbc.m412916200

PubMed ID: 10521295

Title: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

PubMed ID: 10521295

DOI: 10.1086/302611

PubMed ID: 10790206

Title: Novel mutations in 13 probands with galactokinase deficiency.

PubMed ID: 10790206

DOI: 10.1002/(sici)1098-1004(200005)15:5<447::aid-humu6>3.0.co;2-m

PubMed ID: 11231902

Title: A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians.

PubMed ID: 11231902

DOI: 10.1086/319512

PubMed ID: 11139256

Title: Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

PubMed ID: 11139256

DOI: 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.0.co;2-h

PubMed ID: 12694189

Title: Functional analysis of disease-causing mutations in human galactokinase.

PubMed ID: 12694189

DOI: 10.1046/j.1432-1033.2003.03538.x

PubMed ID: 12942049

Title: Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

PubMed ID: 12942049

PubMed ID: 15024738

Title: Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

PubMed ID: 15024738

DOI: 10.1002/humu.9223

Sequence Information:

  • Length: 392
  • Mass: 42272
  • Checksum: 8D7CFF8FDB0E4718
  • Sequence:
    • MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM 
TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA 
PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM 
PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR 
RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY 
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA 
APHAMRHIQE HYGGTATFYL SQAADGAKVL CL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.