Details for: GALK1

Gene ID: 2584

Symbol: GALK1

Ensembl ID: ENSG00000108479

Description: galactokinase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.07
    Marker Score: 3618
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.36
    Marker Score: 2862
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.27
    Marker Score: 1538
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.19
    Marker Score: 2717.5
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.11
    Marker Score: 552
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1
    Marker Score: 11193
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.1
    Marker Score: 5266
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.06
    Marker Score: 1633
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.05
    Marker Score: 4140
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.04
    Marker Score: 6337
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.01
    Marker Score: 56671
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1
    Marker Score: 1010
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1
    Marker Score: 1435.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71712.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47937
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.98
    Marker Score: 539
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.94
    Marker Score: 8081
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.94
    Marker Score: 10878
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.93
    Marker Score: 1814
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.93
    Marker Score: 590
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2702
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.89
    Marker Score: 1017
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.89
    Marker Score: 3824
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.88
    Marker Score: 3119
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.87
    Marker Score: 886
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.87
    Marker Score: 9756
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.85
    Marker Score: 2320.5
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.84
    Marker Score: 5359.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4781
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.83
    Marker Score: 13039
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.8
    Marker Score: 6210
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.79
    Marker Score: 948
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.79
    Marker Score: 2578
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.78
    Marker Score: 1484
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 593
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.77
    Marker Score: 644
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.77
    Marker Score: 960
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.77
    Marker Score: 511
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.76
    Marker Score: 1014
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.75
    Marker Score: 1956
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.75
    Marker Score: 1773
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.75
    Marker Score: 9858
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.75
    Marker Score: 541
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.75
    Marker Score: 1057
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.74
    Marker Score: 453
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.72
    Marker Score: 2957
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.72
    Marker Score: 4698
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.71
    Marker Score: 472
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.71
    Marker Score: 1675
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.7
    Marker Score: 370
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.7
    Marker Score: 508
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.7
    Marker Score: 336
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.69
    Marker Score: 653
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.69
    Marker Score: 1724
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.69
    Marker Score: 716
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.69
    Marker Score: 1215
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.68
    Marker Score: 235
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 617
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.67
    Marker Score: 431
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.66
    Marker Score: 328
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.66
    Marker Score: 694
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.65
    Marker Score: 196
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.65
    Marker Score: 245
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.65
    Marker Score: 578
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.64
    Marker Score: 265
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.64
    Marker Score: 1893
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.63
    Marker Score: 221
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.63
    Marker Score: 676
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.63
    Marker Score: 637
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.63
    Marker Score: 453
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.63
    Marker Score: 1038
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.62
    Marker Score: 739
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.61
    Marker Score: 417
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.61
    Marker Score: 15697
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.61
    Marker Score: 137
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 0.61
    Marker Score: 1546
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.61
    Marker Score: 1270
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.6
    Marker Score: 413
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.6
    Marker Score: 294
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 396
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.6
    Marker Score: 1598
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.59
    Marker Score: 854
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.59
    Marker Score: 247
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.59
    Marker Score: 590
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.59
    Marker Score: 2172
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.59
    Marker Score: 234
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.58
    Marker Score: 1189
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.58
    Marker Score: 187
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.58
    Marker Score: 187

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Other Information

**Key characteristics:** - GALK1 is a transmembrane protein that is expressed in a variety of cell types. - It is a key enzyme in the galactose metabolic pathway. - It is involved in the regulation of glucose metabolism and the synthesis of galactose. - It is a regulator of the expression of other galactose metabolism genes. **Pathways and functions:** - GALK1 is involved in the following pathways: - Galactose metabolic process - Galactose catabolism - Galactose catabolic process via UDP-galactose - It is also involved in the regulation of the following diseases: - Galct2, Disease - Diseases associated with glycosylation precursor biosynthesis - Diseases of glycosylation - Diseases of metabolism **Clinical significance:** GALK1 gene mutations have been linked to a number of human diseases, including galactosemia and galactose intolerance. These diseases are caused by mutations in genes that encode GALK1. These mutations can lead to the accumulation of galactose in the blood or other body fluids, which can cause a number of symptoms, including muscle weakness, intellectual disability, and seizures. **Additional notes:** - GALK1 is a highly conserved protein, with a sequence that is found in organisms from yeast to humans. - It is a key enzyme in the galactose metabolic pathway, which is involved in the metabolism of galactose, a sugar that is found in milk and other dairy products. - GALK1 is a well-studied protein, and there are a number of drugs that are used to treat galactosemia.

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 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 25 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 UniProtKB 2 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. For the full schema, download it here.