Details for: GALE

Gene ID: 2582

Symbol: GALE

Ensembl ID: ENSG00000117308

Description: UDP-galactose-4-epimerase

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: foveolar cell of stomach (CL0002179)
    Fold Change: 2.27
    Marker Score: 14472
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.91
    Marker Score: 944
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.73
    Marker Score: 3934
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.64
    Marker Score: 7877
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.58
    Marker Score: 2533
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.58
    Marker Score: 1510
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.57
    Marker Score: 4934
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.55
    Marker Score: 13353
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.52
    Marker Score: 2245
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.52
    Marker Score: 837
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.51
    Marker Score: 1011
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.42
    Marker Score: 2487
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.4
    Marker Score: 3329
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.3
    Marker Score: 8485
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.3
    Marker Score: 411
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.22
    Marker Score: 1090.5
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.21
    Marker Score: 603
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.2
    Marker Score: 347
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.19
    Marker Score: 4411
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.18
    Marker Score: 2154
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.15
    Marker Score: 2611
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.12
    Marker Score: 4412
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.12
    Marker Score: 1118.5
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.12
    Marker Score: 1203.5
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.11
    Marker Score: 517
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.1
    Marker Score: 272
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.09
    Marker Score: 456
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.08
    Marker Score: 1841.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.07
    Marker Score: 1697
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251728
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71747.5
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47972
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.98
    Marker Score: 7671
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.96
    Marker Score: 1121
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2403
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.93
    Marker Score: 634
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 439
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5283
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.93
    Marker Score: 32044
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2714
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.89
    Marker Score: 457
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.85
    Marker Score: 578
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.85
    Marker Score: 216
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 0.82
    Marker Score: 2254
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.82
    Marker Score: 1545
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.8
    Marker Score: 5985
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.8
    Marker Score: 4207
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 592
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.76
    Marker Score: 509
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.75
    Marker Score: 1077
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.74
    Marker Score: 2620
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.73
    Marker Score: 774
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.73
    Marker Score: 1720
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.73
    Marker Score: 765
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 290
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.72
    Marker Score: 191
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.72
    Marker Score: 602
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.72
    Marker Score: 927
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3003
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.71
    Marker Score: 204
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.71
    Marker Score: 11083.5
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.7
    Marker Score: 563
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.7
    Marker Score: 1762
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.69
    Marker Score: 1150
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.68
    Marker Score: 166
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.68
    Marker Score: 1054
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.68
    Marker Score: 134
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 620
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.67
    Marker Score: 1402
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.67
    Marker Score: 1186
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.65
    Marker Score: 10473
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.65
    Marker Score: 656
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.64
    Marker Score: 775
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.63
    Marker Score: 837
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.61
    Marker Score: 482
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.61
    Marker Score: 249
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.6
    Marker Score: 665
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.6
    Marker Score: 249
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.6
    Marker Score: 417
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.59
    Marker Score: 222
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.58
    Marker Score: 438
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.58
    Marker Score: 901
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.57
    Marker Score: 148
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.56
    Marker Score: 531
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.56
    Marker Score: 700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.55
    Marker Score: 1161
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.55
    Marker Score: 150
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.54
    Marker Score: 217
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 430
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.54
    Marker Score: 380
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.54
    Marker Score: 225
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.53
    Marker Score: 171

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Other Information

**Key characteristics:** - GALE is a protein of 125 amino acids. - It is expressed in a variety of cell types, including foveolar cells of the stomach, bronchial goblet cells, mucous neck cells, enterocytes, pneumocytes, intestine goblet cells, colon epithelial cells, epithelial cells of the esophagus, bladder urothelial cells, and Hofbauer cells. - It is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. **Pathways and functions:** - GALE is involved in the galactose catabolic process, a pathway that breaks down galactose to produce glucose. - This process is important for maintaining blood glucose levels and for providing a source of glucose for other cellular processes. - GALE is also involved in the metabolism of carbohydrates, and it is a key regulator of blood glucose metabolism. **Clinical significance:** GALE mutations can lead to a genetic disorder called edg, which is characterized by a spectrum of developmental and neurological symptoms. These symptoms include intellectual disability, facial malformations, and heart defects. GALE mutations have also been linked to a number of other diseases, including cancer, diabetes, and metabolic disorders.

Genular Protein ID: 4056142768

Symbol: GALE_HUMAN

Name: Galactowaldenase

UniProtKB Accession Codes:

Q14376 A0A024RAH5 B3KQ39 Q38G75 Q86W41 Q9BVE3 Q9UJB4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 2 EMBL 16 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 7 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8593531

Title: Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.

PubMed ID: 8593531

DOI: 10.1006/bmme.1995.1048

PubMed ID: 9538513

Title: Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia.

PubMed ID: 9538513

DOI: 10.1006/mgme.1997.2645

PubMed ID: 16385452

Title: Epimerase-deficiency galactosemia is not a binary condition.

PubMed ID: 16385452

DOI: 10.1086/498985

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22654673

Title: UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogaster.

PubMed ID: 22654673

DOI: 10.1371/journal.pgen.1002721

PubMed ID: 23732289

Title: Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.

PubMed ID: 23732289

DOI: 10.1016/j.gene.2013.05.027

PubMed ID: 15175331

Title: Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.

PubMed ID: 15175331

DOI: 10.1074/jbc.m405005200

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: 10801319

Title: Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase.

PubMed ID: 10801319

DOI: 10.1021/bi000215l

PubMed ID: 11279032

Title: Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site.

PubMed ID: 11279032

DOI: 10.1074/jbc.m100220200

PubMed ID: 11279193

Title: Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.

PubMed ID: 11279193

DOI: 10.1074/jbc.m101304200

PubMed ID: 9326324

Title: Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

PubMed ID: 9326324

DOI: 10.1086/515517

PubMed ID: 9973283

Title: Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.

PubMed ID: 9973283

DOI: 10.1086/302263

PubMed ID: 11117433

Title: Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.

PubMed ID: 11117433

DOI: 10.1023/a:1005682913784

PubMed ID: 11903335

Title: A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.

PubMed ID: 11903335

DOI: 10.1034/j.1399-0004.2001.600505.x

PubMed ID: 16302980

Title: Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.

PubMed ID: 16302980

DOI: 10.1111/j.1742-4658.2005.05017.x

PubMed ID: 16301867

Title: The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.

PubMed ID: 16301867

DOI: 10.1097/01.gim.0000194023.27802.2d

PubMed ID: 15639193

Title: Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

PubMed ID: 15639193

DOI: 10.1016/j.ymgme.2004.09.003

Sequence Information:

  • Length: 348
  • Mass: 38282
  • Checksum: 06FDBF9B1943DF49
  • Sequence:
    • MAEKVLVTGG AGYIGSHTVL ELLEAGYLPV VIDNFHNAFR GGGSLPESLR RVQELTGRSV 
EFEEMDILDQ GALQRLFKKY SFMAVIHFAG LKAVGESVQK PLDYYRVNLT GTIQLLEIMK 
AHGVKNLVFS SSATVYGNPQ YLPLDEAHPT GGCTNPYGKS KFFIEEMIRD LCQADKTWNA 
VLLRYFNPTG AHASGCIGED PQGIPNNLMP YVSQVAIGRR EALNVFGNDY DTEDGTGVRD 
YIHVVDLAKG HIAALRKLKE QCGCRIYNLG TGTGYSVLQM VQAMEKASGK KIPYKVVARR 
EGDVAACYAN PSLAQEELGW TAALGLDRMC EDLWRWQKQN PSGFGTQA

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.